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Androgenetic alopecia – Genetics Home Reference – NIH

A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.

Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.

Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.

Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.

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Androgenetic alopecia – Genetics Home Reference – NIH

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Cryopreservation – Wikipedia

Cryo-preservation or cryo-conservation is a process where organelles, cells, tissues, extracellular matrix, organs or any other biological constructs susceptible to damage caused by unregulated chemical kinetics are preserved by cooling to very low temperatures[1] (typically 80C using solid carbon dioxide or 196C using liquid nitrogen). At low enough temperatures, any enzymatic or chemical activity which might cause damage to the biological material in question is effectively stopped. Cryopreservation methods seek to reach low temperatures without causing additional damage caused by the formation of ice crystals during freezing. Traditional cryopreservation has relied on coating the material to be frozen with a class of molecules termed cryoprotectants. New methods are constantly being investigated due to the inherent toxicity of many cryoprotectants.[2] By default it should be considered that cryopreservation alters or compromises the structure and function of cells unless it is proven otherwise for a particular cell population. Cryoconservation of animal genetic resources is the process in which animal genetic material is collected and stored with the intention of conservation of the breed.

Water-bears (Tardigrada), microscopic multicellular organisms, can survive freezing by replacing most of their internal water with the sugar trehalose, preventing it from crystallization that otherwise damages cell membranes. Mixtures of solutes can achieve similar effects. Some solutes, including salts, have the disadvantage that they may be toxic at intense concentrations. In addition to the water-bear, wood frogs can tolerate the freezing of their blood and other tissues. Urea is accumulated in tissues in preparation for overwintering, and liver glycogen is converted in large quantities to glucose in response to internal ice formation. Both urea and glucose act as “cryoprotectants” to limit the amount of ice that forms and to reduce osmotic shrinkage of cells. Frogs can survive many freeze/thaw events during winter if no more than about 65% of the total body water freezes. Research exploring the phenomenon of “freezing frogs” has been performed primarily by the Canadian researcher, Dr. Kenneth B. Storey.[citation needed]

Freeze tolerance, in which organisms survive the winter by freezing solid and ceasing life functions, is known in a few vertebrates: five species of frogs (Rana sylvatica, Pseudacris triseriata, Hyla crucifer, Hyla versicolor, Hyla chrysoscelis), one of salamanders (Hynobius keyserlingi), one of snakes (Thamnophis sirtalis) and three of turtles (Chrysemys picta, Terrapene carolina, Terrapene ornata).[3] Snapping turtles Chelydra serpentina and wall lizards Podarcis muralis also survive nominal freezing but it has not been established to be adaptive for overwintering. In the case of Rana sylvatica one cryopreservant is ordinary glucose, which increases in concentration by approximately 19mmol/l when the frogs are cooled slowly.[3]

One of the most important early theoreticians of cryopreservation was James Lovelock. He suggested that damage to red blood cells during freezing was due to osmotic stress. During the early 1950s, Lovelock had also suggested that increasing salt concentrations in a cell as it dehydrates to lose water to the external ice might cause damage to the cell.[4] In the mid-1950s, he experimented with the cryopreservation of rodents, determining that hamsters could be frozen with 60% of the water in the brain crystallized into ice with no adverse effects. Other organs were shown to be susceptible to damage.[5]

Cryopreservation was applied to humans beginning in 1954 with three pregnancies resulting from the insemination of previously frozen sperm.[6] Fowl sperm was cryopreserved in 1957 by a team of scientists in the UK directed by Christopher Polge.[7] However, the rapid immersion of the samples in liquid nitrogen did not, for certain samples such as some types of embryos, bone marrow and stem cells produce the necessary viability to make them usable after thawing. Increased understanding of the mechanism of freezing injury to cells emphasised the importance of controlled or slow cooling to obtain maximum survival on thawing of the living cells. A controlled-rate cooling process, allowing biological samples to equilibrate to optimal physical parameters osmotically in a cryoprotectant (a form of anti-freeze) before cooling in a predetermined, controlled way proved necessary. The ability of cryoprotectants, in the early cases glycerol, to protect cells from freezing injury was discovered accidentally. Freezing injury has two aspects: direct damage from the ice crystals and secondary damage caused by the increase in concentration of solutes as progressively more ice is formed. During 1963, Peter Mazur, at Oak Ridge National Laboratory in the U.S., demonstrated that lethal intracellular freezing could be avoided if cooling was slow enough to permit sufficient water to leave the cell during progressive freezing of the extracellular fluid. That rate differs between cells of differing size and water permeability: a typical cooling rate around 1C/minute is appropriate for many mammalian cells after treatment with cryoprotectants such as glycerol or dimethyl sulphoxide, but the rate is not a universal optimum.[8]

Storage at very low temperatures is presumed to provide an indefinite longevity to cells, although the actual effective life is rather difficult to prove. Researchers experimenting with dried seeds found that there was noticeable variability of deterioration when samples were kept at different temperatures even ultra-cold temperatures. Temperatures less than the glass transition point (Tg) of polyol’s water solutions, around 136C (137K; 213F), seem to be accepted as the range where biological activity very substantially slows, and 196C (77K; 321F), the boiling point of liquid nitrogen, is the preferred temperature for storing important specimens. While refrigerators, freezers and extra-cold freezers are used for many items, generally the ultra-cold of liquid nitrogen is required for successful preservation of the more complex biological structures to virtually stop all biological activity.

Phenomena which can cause damage to cells during cryopreservation mainly occur during the freezing stage, and include: solution effects, extracellular ice formation, dehydration and intracellular ice formation. Many of these effects can be reduced by cryoprotectants.Once the preserved material has become frozen, it is relatively safe from further damage. However, estimates based on the accumulation of radiation-induced DNA damage during cryonic storage have suggested a maximum storage period of 1000 years.[9]

The main techniques to prevent cryopreservation damages are a well established combination of controlled rate and slow freezing and a newer flash-freezing process known as vitrification.

Controlled-rate and slow freezing, also known as slow programmable freezing (SPF),[10] is a set of well established techniques developed during the early 1970s which enabled the first human embryo frozen birth Zoe Leyland during 1984. Since then, machines that freeze biological samples using programmable sequences, or controlled rates, have been used all over the world for human, animal and cell biology “freezing down” a sample to better preserve it for eventual thawing, before it is frozen, or cryopreserved, in liquid nitrogen. Such machines are used for freezing oocytes, skin, blood products, embryo, sperm, stem cells and general tissue preservation in hospitals, veterinary practices and research laboratories around the world. As an example, the number of live births from frozen embryos ‘slow frozen’ is estimated at some 300,000 to 400,000 or 20% of the estimated 3 million in vitro fertilisation (IVF) births.[11]

Lethal intracellular freezing can be avoided if cooling is slow enough to permit sufficient water to leave the cell during progressive freezing of the extracellular fluid. To minimize the growth of extracellular ice crystal growth and recrystallization,[12] biomaterials such as alginates, polyvinyl alcohol or chitosan can be used to impede ice crystal growth along with traditional small molecule cryoprotectants.[13] That rate differs between cells of differing size and water permeability: a typical cooling rate of about 1C/minute is appropriate for many mammalian cells after treatment with cryoprotectants such as glycerol or dimethyl sulfoxide, but the rate is not a universal optimum. The 1C / minute rate can be achieved by using devices such as a rate-controlled freezer or a benchtop portable freezing container.[14]

Several independent studies have provided evidence that frozen embryos stored using slow-freezing techniques may in some ways be ‘better’ than fresh in IVF. The studies indicate that using frozen embryos and eggs rather than fresh embryos and eggs reduced the risk of stillbirth and premature delivery though the exact reasons are still being explored.

Researchers Greg Fahy and William F. Rall helped to introduce vitrification to reproductive cryopreservation in the mid-1980s.[15] As of 2000, researchers claim vitrification provides the benefits of cryopreservation without damage due to ice crystal formation.[16] The situation became more complex with the development of tissue engineering as both cells and biomaterials need to remain ice-free to preserve high cell viability and functions, integrity of constructs and structure of biomaterials. Vitrification of tissue engineered constructs was first reported by Lilia Kuleshova,[17] who also was the first scientist to achieve vitrification of womans eggs (oocytes), which resulted in live birth in 1999.[18] For clinical cryopreservation, vitrification usually requires the addition of cryoprotectants prior to cooling. The cryoprotectants act like antifreeze: they decrease the freezing temperature. They also increase the viscosity. Instead of crystallizing, the syrupy solution becomes an amorphous iceit vitrifies. Rather than a phase change from liquid to solid by crystallization, the amorphous state is like a “solid liquid”, and the transformation is over a small temperature range described as the “glass transition” temperature.

Vitrification of water is promoted by rapid cooling, and can be achieved without cryoprotectants by an extremely rapid decrease of temperature (megakelvins per second). The rate that is required to attain glassy state in pure water was considered to be impossible until 2005.[19]

Two conditions usually required to allow vitrification are an increase of the viscosity and a decrease of the freezing temperature. Many solutes do both, but larger molecules generally have a larger effect, particularly on viscosity. Rapid cooling also promotes vitrification.

For established methods of cryopreservation, the solute must penetrate the cell membrane in order to achieve increased viscosity and decrease freezing temperature inside the cell. Sugars do not readily permeate through the membrane. Those solutes that do, such as dimethyl sulfoxide, a common cryoprotectant, are often toxic in intense concentration. One of the difficult compromises of vitrifying cryopreservation concerns limiting the damage produced by the cryoprotectant itself due to cryoprotectant toxicity. Mixtures of cryoprotectants and the use of ice blockers have enabled the Twenty-First Century Medicine company to vitrify a rabbit kidney to 135C with their proprietary vitrification mixture. Upon rewarming, the kidney was transplanted successfully into a rabbit, with complete functionality and viability, able to sustain the rabbit indefinitely as the sole functioning kidney.[20]

Generally, cryopreservation is easier for thin samples and small clumps of individual cells, because these can be cooled more quickly and so require lesser doses of toxic cryoprotectants. Therefore, cryopreservation of human livers and hearts for storage and transplant is still impractical.

Nevertheless, suitable combinations of cryoprotectants and regimes of cooling and rinsing during warming often allow the successful cryopreservation of biological materials, particularly cell suspensions or thin tissue samples. Examples include:

Additionally, efforts are underway to preserve humans cryogenically, known as cryonics. For such efforts either the brain within the head or the entire body may experience the above process. Cryonics is in a different category from the aforementioned examples, however: while countless cryopreserved cells, vaccines, tissue and other biologial samples have been thawed and used successfully, this has not yet been the case at all for cryopreserved brains or bodies. At issue are the criteria for defining “success”. Proponents of cryonics claim that cryopreservation using present technology, particularly vitrification of the brain, may be sufficient to preserve people in an “information theoretic” sense so that they could be revived and made whole by hypothetical vastly advanced future technology. Not only is there no guarantee of its success, many people argue that human cryopreservation is unethical. According to certain views of the mind body problem, some philosophers believe that the mind, which contains thoughts, memories, and personality, is separate from the brain. When someone dies, their mind leaves the body. If a cryopreserved patient gets successfully resuscitated, no one knows if they would be the same person that they once were or if they would be an empty shell of the memory of who they once were. Right now scientists are trying to see if transplanting cryopreserved human organs for transplantation is viable, if so this would be a major step forward for the possibility of reviving a cryopreserved human.[22]

Cryopreservation for embryos is used for embryo storage, e.g., when in vitro fertilization (IVF) has resulted in more embryos than is currently needed.

Pregnancies have been reported from embryos stored for 16 years.[23] Many studies have evaluated the children born from frozen embryos, or frosties. The result has been uniformly positive with no increase in birth defects or development abnormalities.[24] A study of more than 11,000 cryopreserved human embryos showed no significant effect of storage time on post-thaw survival for IVF or oocyte donation cycles, or for embryos frozen at the pronuclear or cleavage stages.[25] Additionally, the duration of storage did not have any significant effect on clinical pregnancy, miscarriage, implantation, or live birth rate, whether from IVF or oocyte donation cycles.[25] Rather, oocyte age, survival proportion, and number of transferred embryos are predictors of pregnancy outcome.[25]

Cryopreservation of ovarian tissue is of interest to women who want to preserve their reproductive function beyond the natural limit, or whose reproductive potential is threatened by cancer therapy,[26] for example in hematologic malignancies or breast cancer.[27] The procedure is to take a part of the ovary and perform slow freezing before storing it in liquid nitrogen whilst therapy is undertaken. Tissue can then be thawed and implanted near the fallopian, either orthotopic (on the natural location) or heterotopic (on the abdominal wall),[27] where it starts to produce new eggs, allowing normal conception to occur.[28] The ovarian tissue may also be transplanted into mice that are immunocompromised (SCID mice) to avoid graft rejection, and tissue can be harvested later when mature follicles have developed.[29]

Human oocyte cryopreservation is a new technology in which a womans eggs (oocytes) are extracted, frozen and stored. Later, when she is ready to become pregnant, the eggs can be thawed, fertilized, and transferred to the uterus as embryos.Since 1999, when the birth of the first baby from an embryo derived from vitrified-warmed womans eggs was reported by Kuleshova and co-workers in the journal of Human Reproduction,[17] this concept has been recognized and widespread. This break-through in achieving vitrification of womans oocytes made an important advance in our knowledge and practice of the IVF process, as clinical pregnancy rate is four times higher after oocyte vitrification than after slow freezing.[30] Oocyte vitrification is vital for preservation fertility in young oncology patients and for individuals undergoing IVF who object, either for religious or ethical reasons, to the practice of freezing embryos.

Semen can be used successfully almost indefinitely after cryopreservation. The longest reported successful storage is 22 years.[31] It can be used for sperm donation where the recipient wants the treatment in a different time or place, or as a means of preserving fertility for men undergoing vasectomy or treatments that may compromise their fertility, such as chemotherapy, radiation therapy or surgery.

Cryopreservation of immature testicular tissue is a developing method to avail reproduction to young boys who need to have gonadotoxic therapy. Animal data are promising, since healthy offsprings have been obtained after transplantation of frozen testicular cell suspensions or tissue pieces. However, none of the fertility restoration options from frozen tissue, i.e. cell suspension transplantation, tissue grafting and in vitro maturation (IVM) has proved efficient and safe in humans as yet.[32]

Cryopreservation of whole moss plants, especially Physcomitrella patens, has been developed by Ralf Reski and coworkers[33] and is performed at the International Moss Stock Center. This biobank collects, preserves, and distributes moss mutants and moss ecotypes.[34]

MSCs, when transfused immediately within a few hours post-thawing, may show reduced function or show decreased efficacy in treating diseases as compared to those MSCs which are in log phase of cell growth (fresh). As a result, cryopreserved MSCs should be brought back into log phase of cell growth in in vitro culture before these are administered for clinical trials or experimental therapies. Re-culturing of MSCs will help in recovering from the shock the cells get during freezing and thawing. Various clinical trials on MSCs have failed which used cryopreserved products immediately post-thaw as compared to those clinical trials which used fresh MSCs.[35]

Bacteria and fungi can be kept short-term (months to about a year, depending) refrigerated, however, cell division and metabolism is not completely arrested and thus is not an optimal option for long-term storage (years) or to preserve cultures genetically or phenotypically, as cell divisions can lead to mutations or sub-culturing can cause phenotypic changes. A preferred option, species-dependent, is cryopreservation. Nematode worms are the only multicellular eukaryotes that have been shown to survive cryopreservation. [36][37]

Fungi, notably zygomycetes, ascomycetes and higher basidiomycetes, regardless of sporulation, are able to be stored in liquid nitrogen or deep-frozen. Crypreservation is a hallmark method for fungi that do not sporulate (otherwise other preservation methods for spores can be used at lower costs and ease), sporulate but have delicate spores (large or freeze-dry sensitive), are pathogenic (dangerous to keep metabolically active fungus) or are to be used for genetic stocks (ideally to have identical composition as the original deposit). As with many other organisms, cryoprotectants like DMSO or glycerol (e.g. filamentous fungi 10% glycerol or yeast 20% glycerol) are used. Differences between choosing cryoprotectants are species (or class) dependent, but generally for fungi penetrating cryoprotectants like DMSO, glycerol or polyethylene glycol are most effective (other non-penetrating ones include sugars mannitol, sorbitol, dextran, etc.). Freeze-thaw repetition is not recommended as it can decrease viability. Back-up deep-freezers or liquid nitrogen storage sites are recommended. Multiple protocols for freezing are summarized below (each uses screw-cap polypropylene cryotubes):[38]

Many common culturable laboratory strains are deep-frozen to preserve genetically and phenotypically stable, long-term stocks. Sub-culturing and prolonged refrigerated samples may lead to loss of plasmid(s) or mutations. Common final glycerol percentages are 15, 20 and 25. From a fresh culture plate, one single colony of interest is chosen and liquid culture is made. From the liquid culture, the medium is directly mixed with equal amount of glycerol; the colony should be checked for any defects like mutations. All antibiotics should be washed from the culture before long-term storage. Methods vary, but mixing can be done gently by inversion or rapidly by vortex and cooling can vary by either placing the cryotube directly at 50 to 95C, shock-freezing in liquid nitrogen or gradually cooling and then storing at 80C or cooler (liquid nitrogen or liquid nitrogen vapor). Recovery of bacteria can also vary, namely if beads are stored within the tube then the few beads can be used to plate or the frozen stock can be scraped with a loop and then plated, however, since only little stock is needed the entire tube should never be completely thawed and repeated freeze-thaw should be avoided. 100% recovery is not feasible regardless of methodology.[39][40][41]

The microscopic soil-dwelling nematode roundworms Panagrolaimus detritophagus and Plectus parvus are the only eukaryotic organisms that have been proven to be viable after long-term cryopreservation to date. In this case, the preservation was natural rather than artificial, due to permafrost.

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Cryopreservation – Wikipedia

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15 Worrying Things About the CRISPR Babies Scandal – The Atlantic

11. There is no way to tell whether Hes work did any good.

Both Nana and Lulu will be monitored at least until they turn 18. But the children were already at virtually no risk of contracting HIV, said Alta Charo, a bioethicist from the University of Wisconsin at Madison, in a statement. This means that there is no way to evaluate if this indeed conferred any benefit. If they remain HIV-negative, there is no way to show it has anything to do with the editing.

At the Hong Kong summit, He was asked whether the two children would be treated differently by their parents, who will know that they have been edited. I dont know how to answer this question, He said.

12. He has doubled down.

If He shows any contrition about how these events have unfolded, it has not been obvious. Speaking at the Hong Kong summit, he apologized, but only because news about his work leaked unexpectedly before he could present it in a scientific venue. That, He said, took away from the community. Regarding the experiment itself, he said: I feel proud.

13. Scientific academies have prevaricated.

In the wake of Hes bombshell, several scientists, including the CRISPR pioneer Feng Zhang and the stem-cell biologist Paul Knoepfler, have called for a temporary moratorium on similar experiments. By contrast, after the news first broke, the organizing committee of the Hong Kong summit, which includes representatives from scientific academies in Hong Kong, the United Kingdom, and the United States, released a bland statement in which it simply restated the conclusions from its earlier report. A second statement, released after the summit, was stronger, calling Hes claims deeply disturbing and his work irresponsible.

Read: A reckless and needless use of gene editing on human embryos

But the second statement still discusses the creation of more gene-edited babies as a goal that should be worked toward. The risks are too great to permit clinical trials of germ-line editing at this time, it says, but it is time to define a rigorous, responsible translational pathway toward such trials. George Daley from Harvard Medical School, who was one of the meetings co-organizers, made similar points during the event itself. Given that the world is still grappling with the implications of what has happened, no, its not time yet and its tone-deaf to say so, says Hank Greely.

Although the chair opened the summit by invoking Huxleys Brave New World, few of the discussions at the meeting, and nothing in the concluding statement, suggest a meaningful engagement with social consequences, says the Center for Genetics in Society, a watchdog group.

14. A leading geneticist came to Hes defense.

In an interview with Science, George Church, a respected figure from Harvard and a CRISPR pioneer, said that he felt an obligation to be balanced about the He affair. Church suggested that the man was being bullied and that the most serious thing about his experiment was that he didnt do the paperwork right. [Churchs] comments are incredibly irresponsible, says Alexis Carere, who is president-elect of the Canadian Association of Genetic Counsellors. If someone contravenes the rules that we have laid down, we are very justified in speaking out about it. The unfortunate effect of this is that it makes it seem like there is some kind of balance, and George is just in the middle. There is not.

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15 Worrying Things About the CRISPR Babies Scandal – The Atlantic

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Genetic Testing Market Share Analysis – Global Industry …

Published Date:May 2018|160Pages|Report ID:GMI2490 | Report Format: PDF

Industry Trends

Genetic Testing Market size was valued at USD 10.6 billion in 2017 and is expected to witness more than 11.6% CAGR from 2018 to 2024.

U.S. Genetic Testing Market, By Test Type, 2013 2024

Increasing demand from patients for personalized medicines will fuel the demand for genetic testing during the forthcoming years. Personalized medicine offers tailored medical treatment to patients based on their molecular basis. Various developed economies such as Europe undergo genetic testing for detection of various genetic and rare diseases. Detection of diseases at an early stage facilitates early treatment and helps reduce severity of diseases. Growing adoption of personalized medicines coupled with increasing awareness regarding early diagnosis of disease will boost the industry growth over the forecast period.

Technological advancement in genetic testing is expected to drive the genetic testing market during the coming years. The demand for genetic testing is increasing across the globe owing to the availability of new tests as well as advancement in the genetic testing techniques. Innovations in tests that offer safer and efficient techniques of disease detection, surpassing the risk of miscarriage during early stages of pregnancy will serve to be a high impact rendering factor that will drive the genetic testing market growth during the forthcoming years.

Dearth of experienced professionals and advanced infrastructure in developing as well as under developed economies is should hamper the market growth over the forecast period. Accessibility to quality healthcare in low resource areas is difficult to maintain owing to lack of infrastructure. Moreover, risk of false interpretations associated with unavailability of experienced professionals will restrain industry growth noticeably.

Genetic Testing Market, By Test Type

Diagnostic testing segment accounted for the highest market share with a revenue share of USD 5690.6 million and is expected to grow at a significant rate over the forecast timeframe owing to its wide applications in various diseases. Detection of diseases at early stage allow patients to undergo therapeutic treatment at an early stage and minimizes the severity of diseases leading to reduced mortality rate. Increasing prevalence of chronic diseases worldwide will augment the segment growth over the forecast period.

Prenatal and newborn testing segment is estimated to witness lucrative growth with a CAGR of 11.6% during the forecast period. Increasing prevalence of chromosomal abnormalities and genetic disorders in the newborns worldwide is one of the leading cause of infant morbidity and mortality. According to Centers for Disease Control and Prevention (CDC), around 3% of all babies born in the U.S. are affected by birth defects leading to infant death. Aforementioned factors will fuel the demand for prenatal and new-born genetic testing during the coming years.

Genetic Testing Market, By Application

Cardiovascular disease diagnosis segment of genetic testing market will grow at the fastest CAGR of nearly12.8% owing to rising prevalence of cardiac diseases across the globe. Genetic testing allows testing for a wide range of cardiovascular diseases (CVDs) encompassing congenital heart malformations. Timely diagnosis of heart disorders helps save lives and reduce the number of CVD deaths. Healthcare systems efforts towards reducing CVD incidences should fuel business growth over the forecast period.

Cancer diagnosis segment dominated the genetic testing market with a revenue of USD 5562.8 million in 2017. According to, The Institute for Health Metrics and Evaluation (IHME), around 8.9 million cancer deaths were recorded in 2016, of which around 5%-10% were caused by inheriting genetic mutation. Rising prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer coupled with increasing awareness pertaining to early detection of cancer will stimulate the market growth throughout the forecast period.

Genetic Testing Market, By Region

North America dominated the genetic testing market with a revenue of USD 6382.1 million in 2017 and is projected to grow at a significant rate over the forecast period. This is attributable to increasing incidences genetic diseases such as cancer, Turner syndrome, neurofibromatosis, and spinal muscular atrophy. Availability of new tests owing to technological advancements will fuel the demand for genetic testing. Advanced infrastructure coupled with high healthcare expenditure and regulatory support for direct-to-consumer genetic testing will further augment the market growth in the coming years.

Latin America Genetic Testing Market is projected to grow at a robust CAGR of around 13.3% during the forecast period owing to increasing prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer. Breast cancer is the most common cancer among women in Latin America. According to the Pan American Health Organization (PAHO), around 4,08,200 women were diagnosed with breast cancer and the number is estimated to grow by 46% by 2030. Hence, adoption of genetic testing for early detection and prevention of cancer and other genetic diseases will accelerate the regional growth over the forecast period.

Competitive Market Share

Some of the eminent industry players operating in global genetic testing market are 23andMe, Abbott Molecular, Bayer Diagnostics, Biocartis, BioHelix, BioMerieux, BGI, Celera Genomics, Cepheid, Counsyl, deCODEme, Genentech, Genomictree, Genomic Health, HTG Molecular Diagnostics, IntegraGen, LabCorp Diagnostics, Luminex, MolecularMD, Myriad, Natera, PacBio, Pathway Genomics, Qiagen, Roche Diagnostics, Sequenom and Siemens. Industry players are focusing on strategic expansion through acquisitions, mergers and collaborations help the players to strengthen and enhance the product portfolio. For instance, in December 2017, Roche acquired Ariosa Diagnostics, a molecular diagnostic testing services provider, to enter the non-invasive prenatal test (NIPT) and cell-free DNA testing services market.

Genetic Testing Industry Background

Rising prevalence of diseases such as cancer, cystic fibrosis, Alzheimers and other genetic diseases will drive global genetic testing industry. Increasing adoption of genetic testing for early detection of diseases and identification of genetic mutation prior to its manifestation will further augment industry growth over the forecast period. The industry is expected to witness rapid growth in the future owing to rising physician adoption of genetic testing into clinical care. Availability of regulatory support for direct to consumer (DTC) testing and ongoing advancements in technology enable industry players to maintain their market position.

What Information does this report contain?

Historical data coverage: 2013 to 2017; Growth Projections: 2018 to 2024.

Expert analysis: industry, governing, innovation and technological trends; factors impacting development; drawbacks, SWOT.

6-7 year performance forecasts: major segments covering applications, top products and geographies.

Competitive landscape reporting: market leaders and important players, competencies and capacities of these companies in terms of production as well as sustainability and prospects.

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Genetic Testing Market Share Analysis – Global Industry …

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The Infamous Scientist Behind the CRISPR Baby Gene Editing Is …

From Popular Mechanics

When He Jiankui shocked the world last week by declaring he had successfully altered the genetic code of two babies, he was met with overwhelming skepticism and condemnation from the scientific community. Now, his case has gotten weirder. The South China Morning Post reports that the infamous scientist has gone missing.

Officials at He’s now-former university, the Shenzhen-based Southern University of Science and Technology, denied claims that He had been detained by the Chinese government. Right now nobodys information is accurate, only the official channels are, the official tells the SCMP.

On November 26, He Jiankui released a series of YouTube videos announcing that he had made science fiction real-using the genetic editing tool CRISPR, he had successfully edited the genetic code of two twin baby girls to make them more resistant to the HIV virus. He had not allowed any independent scientific inspection of his work, choosing to announce his breakthrough through mainstream journalism and social media.

After the highly unconventional announcement, He’s work has come under intense criticism in the realms of both ethics and pure science. Speaking at the International Human Genome Editing Summit, He falsely claimed that his results had “leaked,” although their release had been part of a carefully coordinated media release.

During a 20-minute talk with a question and answer period, He attempted to justify his study to his peers. Presenting himself as a champion working against discrimination of those with HIV, He said that he feels “proud” of his work which targeted CCR5, a known pathway for the virus.

The scientific community disagreed on both purely scientific and as well as moral grounds. Several scientists who observed He’s speech began challenging his work with the two girls, known as Lulu and Nana. One of the most thorough breakdowns of He’s work comes from Gaetan Burgio of Australia National University.

“If you look into details,” Burgio tells PopMech over the phone, “what they meant to target, they havent targeted. They targeted CCR5, which is correct, but they havent targeted the region known to show resistance to HIV.” Burgio says that its “likely” that at least one of the children has no additional resistance to HIV at all.

A particular failure of He’s, according to Burgio, was not recognizing what’s known as the “allele mosaic.” In genetics, a mosaic refers to two or more cell populations with differing genotypes (pieces of genetic material) in one individual. Alleles are crucial parts of our genetic code, variations on DNA that allow for unique traits like eye color. Like eye color, CCR5 has a wide variety of potential variations. Ignoring this mosaic while working on genes could end up in any number of results, ranging from the neutral to the deeply harmful.

He’s lack of transparency means that “we dont know what has been done to the genes” of the two infants, Burgio says.

There also appear to have been significant problems with an important part of any study this risky-informed consent of the parents. The consent form that patients signed has come under stern criticism from other scientists, comparing it to a “business form, of the kind that a company might use when subcontracting” while downplaying any risks of the procedure.

“If this was a mouse,” Burgio says, “I would not be concerned. But were talking about kids.” When asked about He’s motivations, Burgio felt sure that He wanted “to be first” in making the discovery. When asked about the possibility that He was genuine in his concern for HIV patients, Burgio laughed, noting that there are far safer ways to treat the disease.

Since He’s appearance at the summit, he has not been seen. His university, where He has apparently been on leave since February, has disavowed knowledge of his work. A graduate of Rice University in Texas, He found a collaborator in a professor from the school, Michael Deem. Rice has released a statement declaring that the work “violates scientific conduct guidelines and is inconsistent with ethical norms of the scientific community and Rice University.

Source: SCMP

(‘You Might Also Like’,)

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The Infamous Scientist Behind the CRISPR Baby Gene Editing Is …

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What Happens to the CRISPR Twins? Their Lives Will … – time.com

For now, theyre known as Lulu and Nana, pseudonyms that are meant to give them some amount of anonymity amid the international uproar over their birth. As the first babies born after their genomes were edited (while they were embryos, by the genetics tool CRISPR) the twin girls, born in Shenzhen, China, are the subject of scientific and public scrutiny that will only escalate as they get older.

He Jiankui, a professor at the Southern University of Science and Technology, stunned the world when he claimed, both in a video posted by his lab and in an interview with a journalist, that he used CRISPR to disable a gene involved in helping HIV to enter healthy cells. By doing so, he gave the resulting edited embryos, including the twin girls, resistance to the virus. Doing so means He violated current guidelines prohibiting using CRISPR on human embryos for pregnancy. For now, Hes claims are only claims, since he has not published his work in a scientific journal for others to review and validate. While he did present his findings at a conference a few days after his YouTube announcement, researchers can only take the data at face value. He says he plans to publish the data, but now that the report has been released to the public, its difficult to predict which journals would accept the manuscript.

The Chinese researchers university denied knowledge of his experiment and said that He has been on leave since last February. Chinese authorities have now suspended Hes work, and Xu Nanping, vice minister of Chinas Ministry of Science and Technology, said Hes study was abominable in nature and violated Chinese laws and regulations, according to the governments Xinhua news.

The reason for the scientific censure boils down to the fact that He preempted a continuing debate over how and when CRISPR should be used in people. The technology, discovered in 2012, provides unprecedented precision and power to edit any genome, including the DNA of people, by snipping out portions of mutated genes and either allowing the genome to repair itself or by providing healthy versions of the gene. But because the approach is relatively new, scientists are still learning about exactly how precise their edits can be, and what some of the potential negative and long term consequences of altering human DNA could be.

Chinese geneticist He Jiankui of the Southern University of Science and Technology in Shenzhen, China, speaking during the Second International Summit on Human Genome Editing at the University of Hong Kong.

SOPA ImagesLightRocket/Getty Images

Nearly all international genetics groups have guidelines prohibiting using CRISPR to edit human embryos and implanting them for pregnancy, as the Chinese researcher did. Experts fully support using CRISPR in cells that cant be passed down from generation to generation, like skin cells or blood cells.

But what He did will forever change the twins DNA. Because he altered their genomes when they were embryos, those changes were picked up by every new cell that the embryos made as they continued to divide and develop, eventually forming the twins. So when the girls are ready to have children, their eggs may contain the CRISPR edits that He gave them, and they could pass on their altered genes to their children and all future generations of children in their lineage.

Having the gene itself is not necessarily a bad thing the edit He made is meant to protect people from getting infected with HIV but the problem is that scientists arent convinced yet that the HIV protection will be the only thing the CRISPR edit did to the twins genomes.

Its not clear, for example, that CRISPR is as precise as researchers would like it to be. It makes mistakes. In some cases, CRISPR may make unintended changes in random parts of the genome, like an autocorrect feature that mistakenly corrects typos to produce an entirely different word. In other cases, it may not make the edits as consistently as needed, so some cells may be edited while others are not, and some cells may even be partially edited, leaving a patchwork result scientists call mosaicism.

According to experts who reviewed some of the data He presented at a conference days after his stunning announcement, they say there is evidence that both girls born with the CRISPR edits showed such signs of mosaicism when they were embryos, meaning they are now likely to have the same mishmash of CRISPRd and unCRISPRd cells in their bodies. That means that they may not even benefit from the resistance to HIV that Hes grand experiment was meant to provide.

Theres also evidence that compromising the HIV gene may have other consequences for example, making people more susceptible to West Nile Virus and possibly the flu.

Its because of these unanswered questions and potential risks that scientists have favored a moratorium on using CRISPR in human embryos meant for pregnancy, at least until they have a better grasp on how CRISPR works and what some of the long term effects of editing might be. While the U.S. National Academy of Sciences in 2017 allowed for the eventual possibility of human babies whose genomes have been edited by CRISPR, it provided strict criteria for how that should happen: under strict monitoring and only in cases where there is no other medical option.

Neither of those criteria were met in the controversial CRISPR study. The university and the hospital where the births took place denied knowledge of Hes work, and the scientific community was blindsided that he had been proceeding with transferring human embryos for pregnancy. The gene he altered also does not represent an unmet medical need among the couples he worked with, only the fathers were HIV positive, meaning they were unlikely to pass on their infection to their children. Whats more, the fathers were on anti-HIV medications, which controlled their infection and make it even less likely they would infect their partners or their children.

In the twins case, what happens when they want to have children? Will they be allowed to have children naturally, and pass on their edited genes and whatever potential side effects might arise from their altered DNA? Or will regulatory or scientific authorities step in and attempt to control whether their genes continue into future generations by requiring the twins to have IVF and only implanting the embryos that do not show signs of the edited gene? Would those regulatory and scientific bodies even have the right to make such a request?

The implications go beyond just these twins, says Dr. Kiran Musunuru, professor of cardiovascular medicine and genetics at University of Pennsylvania Perelman School of Medicine. If we talk about the sanctity of human life, and the inherent dignity of human life, not much has been gained here. These babies were treated as subjects in a grand medical experiment, and we have to believe that they will be studied for the rest of their lives; its sad actually.

In his presentation and in his video, He justified his unorthodox actions by focusing on the personal. He said the father of the twins now feels motivated to find work and care for his family, and that altering the gene will protect future generations from HIV. But HIV experts say that judicious use and distribution of currently available drugs can effectively stop transmission of the virus, without taking such drastic steps of trying an proven genetic procedure and exposing people to its unknown risks.

While their identities are still protected for now, its unlikely the twins will remain anonymous for long. In bypassing ethical guidelines prohibiting the experiment that he conducted, He not only violated basic tenets of responsible scientific inquiry, he also forever changed how the girls will be viewed by society, and ultimately the decisions they make as a result of their involuntary status as the worlds first CRISPR babies.

Contact us at editors@time.com.

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Rogue Scientist Says Another Crispr Pregnancy Is Underway

On the second day of the Second International Summit on Human Genome Editing, the last session before lunch was already running long. But the crowd crammed into the Lee Shau Kee Lecture Centre at the University of Hong Kong wasnt budging. Neither were the 5,500 people around the world glued to their live video feeds. Everyone was waiting to hear from the the final speaker, the man who says he helped make the worlds first gene-edited babies.

That man is He Jiankui, the Chinese-born, American-trained biophysicist who claims to have Crisprd a pair of twin baby girls.

Robin Lovell-Badge, a biologist at the Francis Crick Institute in the UK, took to the podium to introduce the controversial speaker. Lovell-Badge reminded everyone that the National Academy of the Sciences, the global non-governmental science panel that helped convene this summit, did not know in advance about Hes work. He sent me the slides he was going to show in this session and they did not include any of the work he was going to talk about, said Lovell-Badge. Nothing involving human embryos that were implanted.

But after MIT Technology Review broke the news of Hes covert trials two days ago, Hes session at this event became the object of intense fascination. Folks following along on Twitter wondered if He would show at all. And for one long, agonizing minute after Lovell-Badge welcomed He to the stage, it looked like he might not. When He at last appeared, he began to deliver a different talk, packed with details about what hed been up to.

For the last two years, He has been working in secret, skirting ethical and scientific codes of conduct, and possibly even some laws, to make biological history. On Wednesday morning, Hong Kong time, he revealed to the world just how he did it. It will take scientists days to parse the 59 data-dense slides that describe Hes methods and results. Only then will a fuller picture begin to emerge about just how safe and effective the experiment was. But in the meantime, He still gave the rest of us plenty to think about.

Like the fact that Lulu and Nana, the twin girls, arent the only children Hes group has Crisprd. When pressed on the number of implantations that have taken place so far, the scientist disclosed that there is another potential pregnancy involving a gene-edited embryo. He hesitated to answer the question because the pregnancy is in an early stage. His research team has so far injected Crispr systems into 31 embryos that have developed to the blastocyst stage. He said 70 percent of them were successfully edited and await further screening and implantation in five remaining couples. But now thats all on hold. The trial is paused due to the current situation, said He.

He is now under investigation by his own university, and other legal bodies in China.

After Hes presentation, he took questions from the audience and the moderators, including Lovell-Badge and Matthew Porteus, a Stanford researcher and the scientific founder of Crispr Therapeutics, a company developing Crispr-based drugs to treat genetic diseases. Throughout, He remained calm and thoughtful, if not always fully forthcoming.

At one point, Harvard biochemist David Liu questioned the unmet medical need that He said his experiments were addressing. He recruited couples where the mother is HIV-negative and the father HIV-positive, editing their embryos to bestow them with a rare but natural traitthe ability to resist HIV infections. Given that there are ways to make sure HIV-positive parents dont transmit their disease to their babies without altering their DNA, Liu asked He to describe the unmet medical need, not of HIV in general, but of these patients in particular.

He responded that his trial was not just for these few patients, but for the millions of children suffering from HIV all over the world. He described personal experience with a village in China where 30 percent of the residents are infected and children have to live with their relatives for fear of contracting the virus. I feel proud, actually, said He.

Not everyone agreed with Hes take. Between question and answer sessions, Nobel laureate and summit chair David Baltimore interjected to announce that the organizing committee would issue a formal statement regarding Hes work on Thursday. Baltimore then shared a few personal thoughts, including that the experiments as described do not meet the criteria of the National Academy of Sciences for a responsible application of human germline editing. Personally I dont think it was medically necessary, said Baltimore. I think there has been a failure of self-regulation by the scientific community because of a lack of transparency, he added.

Other members of the organizing committee were similarly skeptical. Having listened to Dr. He, I can only conclude that this was misguided, premature, unnecessary and largely useless, Alta Charo, a bioethicist at the University of Wisconsin-Madison wrote in an email to WIRED. Charo co-chaired the 2017 National Academies consensus study that laid out the criteria for an ethical path to human germline editing. Her greatest concern, she said, is that the consent forms that Hes patients signed created the impression that his project was an AIDS vaccine trial, and may have conflated research with therapy by claiming participants were likely to benefit.

As to the other embryos hes edited, which are on ice while the trial is itself frozen? What will happen to those embryos, or even who decides what happens, Charo says, is unknown.

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Rogue Scientist Says Another Crispr Pregnancy Is Underway

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Before the Claims of Crispr Babies, There Was Chinas One …

In China, many people have already ventured into that terrain. Even before Crispr, it has been possible to create so-called designer babies using in vitro fertilization and selecting egg donors with desirable genetic enhancements, such as looks and intelligence. Thats what many wealthy Chinese have been doing for years. The practice is fairly standard among rich consumers of any nationality, but I was told by fertility clinics and doctors in California that Chinese customers were frequently the most upfront and demanding, driving up prices of East Asian donor eggs to twice and even triple market rates.

Wendie Wilson-Miller, who runs an egg donor agency in Southern California, told me that her Chinese clients almost always want taller, at least 5 foot 5. And they have questions about eyelids; they want to see baby pictures to see if the donors had eyelid surgery.

For years, B.G.I. Shenzhen, one of the worlds largest gene-sequencing facilities, has been running a project to explore the genetic basis for human intelligence, with the goal of eventually enabling parents to boost their offsprings I.Q. before birth. While it may not be possible to isolate human intelligence to a purely genetic component, the company clearly believes theres huge potential demand for such a service. One of its co-founders, Wang Jiang, recently caused a furor when he said in a speech that employees would not be allowed to have children with birth defects because they would be a disgrace.

No society is uniform, and news of the Crispr babies has generated much condemnation and outrage within China, particularly by Dr. Hes peers, who consider him an irresponsible rogue scientist. A top Chinese bioethicist, Qiu Renzong, compared his actions to using a cannon to shoot a bird.

But at the same time, a recent poll indicated wide support in China for gene editing to treat disease, with 24 percent in favor of legalizing gene editing for enhancing intelligence. By contrast, 68 percent of Americans say they are worried about gene editing and its effects, according to Pew Research.

Much is still unknown about the so-called Crispr babies. But it is almost certain that more will follow; Dr. He has already said his experiments have generated another pregnancy. It is also almost certain someone will attempt gene editing to make stronger, smarter, more attractive babies. Pandoras box is wide open in China.

Mei Fong, a Pulitzer Prize-winning journalist, is the author of One Child: The Story of Chinas Most Radical Experiment.

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Learn About Men’s Health Issues and Genetics – Men’s …

The genetic causes of mens health issues cut both ways. On the one hand, it can make you resigned to the fact that youre going to have this or that problem. On the other hand, you can just blame it on your genes!

Having a certain type of genes doesnt mean that you will definitely develop the related disease or health issue. Very few genetic markers are like that. Most inherited genes only increase the risk of you getting the health problem. Lets look more closely at the known and suspected genetic causes of mens health issues.

The most common talking points about baldness are far from proven. They are only educated guesses with certain promising correlations shown in studies, though far from conclusive. These include hair follicles health, blood circulation in the head, eating too much greasy food, etc.

In comparison, male pattern baldness is definitively linked to genetics. You are more likely to go bald if your father is bald. This is also true concerning your grandfather and uncles on your mothers side of the family. A study using over 52,000 genetic data from the UK Biobank found that among the men in the top 10% highest risk pool, 58% of them had moderate to severe hair loss. There are many more such studies.

We are happy to report that research into the genetics of erectile dysfunction is in its infancy. This is probably because most types of ED are unlikely to be caused by genes.

There is a small chance that infertility has a genetic root, and thats only if the infertility is caused by Klinefelters syndrome, Y chromosome deletions, and cystic fibrosis gene mutation.

As for prostate cancer, about 5-10% of prostate cancers are genetic, according to the Memorial Sloan Kettering Cancer Center. However, your chances of getting prostate cancer can increase 5 times if two or more of your close male relatives have it.

And thats about it. Apart from baldness, how you live your life is often more influential than the genetic causes of mens health issues.

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Scientist Who Crisprd Babies Bucked His Own Ethics Policy

We said dont freak out, when scientists first used Crispr to edit DNA in non-viable human embryos. When they tried it in embryos that could theoretically produce babies, we said dont panic. Many years and years of boring bench science remain before anyone could even think about putting it near a womans uterus. Well, we might have been wrong. Permission to push the panic button granted.

Late Sunday night, a Chinese researcher stunned the world by claiming to have created the first human babies, a set of twins, with Crispr-edited DNA. Two beautiful little Chinese girls, Lulu and Nana, came crying into the world as healthy as any other babies a few weeks ago, the scientist, He Jiankui, said in the first of five promotional videos posted to YouTube hours after MIT Technology Review broke the news.

Lulu and Nana are reported to have a genetic mutation, courtesy of Crispr, that makes it harder for HIV to invade and infect their white blood cells. The claim, which has yet to be independently verified or backed up by published data, has ignited furious criticism, international outrage, and multiple investigations. The scientific outcry has been so swift because Hes purported work, conducted in secret, bulldozes past existing ethical guidance on so-called germline editing, in which alterations to an embryos DNA will be passed down to subsequent generations.

Whats perhaps most strange is not that He ignored global recommendations on conducting responsible Crispr research in humans. He also ignored his own advice to the worldguidelines that were published within hours of his transgression becoming public.

On Monday, He and his colleagues at Southern University of Science and Technology, in Shenzhen, published a set of draft ethical principles to frame, guide, and restrict clinical applications that communities around the world can share and localize based on religious beliefs, culture, and public-health challenges. Those principles included transparency and only performing the procedure when the risks are outweighed by serious medical need.

The piece appeared in the The Crispr Journal, a young publication dedicated to Crispr research, commentary, and debate. Rodolphe Barrangou, the journals editor in chief, where the peer-reviewed perspective appeared, says that the article was one of two that it had published recently addressing the ethical concerns of human germline editing, the other by a bioethicist at the University of North Carolina. Both papers authors had requested that their writing come out ahead of a major gene editing summit taking place this week in Hong Kong. When half-rumors of Hes covert work reached Barrangou over the weekend, his team discussed pulling the paper, but ultimately decided that there was nothing too solid to discredit it, based on the information available at the time.

Now Barrangou and his team are rethinking that decision. For one thing, He did not disclose any conflicts of interest, which is standard practice among respectable journals. Its since become clear that not only is He at the helm of several genetics companies in China, He was actively pursuing controversial human research long before writing up a scientific and moral code to guide it.Were currently assessing whether the omission was a matter of ill-management or ill-intent, says Barrangou, who added that the journal is now conducting an audit to see if a retraction might be warranted. Its perplexing to see authors submit an ethical framework under which work should be done on the one hand, and then concurrently do something that directly contravenes at least two of five of their stated principles.

One is transparency. Reporting by Tech Review and The Associated Press has raised questions about whether He misled trial participants and Chinese regulators in his ambitions to make the first Crisprd baby. Two is medical necessity.

Take the gene Hes group chose to edit: CCR5. It codes for a receptor that HIV uses to infiltrate white blood cells, like a key to a locked door. No key, no access. Other controversial Crispr firsts have attempted to correct faulty versions of genes responsible for inherited, often incurable disorders, reverting them back to the healthy version. In contrast, Hes group crippled normal copies of CCR5 to lower the risk of future possible infection with HIVa disease that is easily prevented, treated, and controlled by means that dont involve forever changing someones DNA. Drugs, condoms, needle-exchange programs are all reasonable alternatives.

There are all sorts of questions these issues raise, but the most fundamental is the risk-benefit ratio for the babies who are going to be born, says Hank Greely, an ethicist at Stanford University. And the risk-benefit ratio on this stinks. Any institutional review board that approved it should be disbanded if not jailed.

Reporting by Stat indicates that He may have just gotten in over his head and tried to cram a self-guided ethics education into a few short months. The young scientistrecords indicate He is just 34has a background in biophysics, with stints studying in the US at Rice University and in bioengineer Stephen Quakes lab at Stanford. His resume doesnt read like someone steeped deeply in the nuances and ethics of human research. Barrangou says that came across in the many rounds of edits Hes framework went through. The editorial team did spend a significant amount of time improving both the language and the content, he says.

Its too soon to say whether Hes stunt will bring him fame or just infamy. Hes still scheduled to speak at the human genome editing summit on Wednesday and Thursday. And Chinas central government in Beijing has yet to come down one way or another. Condemnation would make He a rogue and a scientific outcast. Anything else opens the door for a Crispr IVF cottage industry to emerge in China and potentially elsewhere. Its hard to imagine this was the only group in the world doing this, says Paul Knoepfler, a stem cell researcher at UC Davis who wrote a book on the future of designer babies called GMO Sapiens. Some might say this broke the ice. Will others forge ahead and go public with their results or stop what theyre doing and see how this plays out?

What happens next makes all the difference. The fact that two babies now exist with one gene changed by Crispr to a less common form doesnt change the world overnight. What changes the world is how society reacts, and whether it decides to let such DNA-altering procedures become common.

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Scientist Who Crisprd Babies Bucked His Own Ethics Policy

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Chinese Scientist Claims to Use Crispr to Make First …

Ever since scientists created the powerful gene editing technique Crispr, they have braced apprehensively for the day when it would be used to create a genetically altered human being. Many nations banned such work, fearing it could be misused to alter everything from eye color to I.Q.

Now, the moment they feared may have come. On Monday, a scientist in China announced that he had created the worlds first genetically edited babies, twin girls who were born this month.

The researcher, He Jiankui, said that he had altered a gene in the embryos, before having them implanted in the mothers womb, with the goal of making the babies resistant to infection with H.I.V. He has not published the research in any journal and did not share any evidence or data that definitively proved he had done it.

But his previous work is known to many experts in the field, who said many with alarm that it was entirely possible he had.

Its scary, said Dr. Alexander Marson, a gene editing expert at the University of California in San Francisco.

While the United States and many other countries have made it illegal to deliberately alter the genes of human embryos, it is not against the law to do so in China, but the practice is opposed by many researchers there. A group of 122 Chinese scientists issued a statement calling Dr. Hes actions crazy and his claims a huge blow to the global reputation and development of Chinese science.

If human embryos can be routinely edited, many scientists, ethicists and policymakers fear a slippery slope to a future in which babies are genetically engineered for traits like athletic or intellectual prowess that have nothing to do with preventing devastating medical conditions.

While those possibilities might seem far in the future, a different concern is urgent and immediate: safety. The methods used for gene editing can inadvertently alter other genes in unpredictable ways. Dr. He said that did not happen in this case, but it is a worry that looms over the field.

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Dr. He made his announcement on the eve of the Second International Summit on Human Genome Editing in Hong Kong, saying that he had recruited several couples in which the man had H.I.V. and then used in vitro fertilization to create human embryos that were resistant to the virus that causes AIDS. He said he did it by directing Crispr-Cas9 to deliberately disable a gene, known as CCR, that is used to make a protein H.I.V. needs to enter cells.

Dr. He said the experiment worked for a couple whose twin girls were born in November. He said there were no adverse effects on other genes.

In a video that he posted, Dr. He said the father of the twins has a reason to live now that he has children, and that people with H.I.V. face severe discrimination in China.

Dr. Hes announcement was reported earlier by the MIT Technology Review and The Associated Press.

In an interview with the A.P. he indicated that he hoped to set an example to use genetic editing for valid reasons. I feel a strong responsibility that its not just to make a first, but also make it an example, he told the A.P. He added: Society will decide what to do next.

It is highly unusual for a scientist to announce a groundbreaking development without at least providing data that academic peers can review. Dr. He said he had gotten permission to do the work from the ethics board of the hospital Shenzhen Harmonicare, but the hospital, in interviews with Chinese media, denied being involved. Cheng Zhen, the general manager of Shenzhen Harmonicare, has asked the police to investigate what they suspect are fraudulent ethical review materials, according to the Beijing News.

The university that Dr. He is attached to, the Southern University of Science and Technology, said Dr. He has been on no-pay leave since February and that the school of biology believed that his project is a serious violation of academic ethics and academic norms, according to the state-run Beijing News.

In a statement late on Monday, Chinas national health commission said it has asked the health commission in southern Guangdong province to investigate Mr. Hes claims.

Many scientists in the United States were appalled by the developments.

I think thats completely insane, said Shoukhrat Mitalipov, director of the Center for Embryonic Cell and Gene Therapy at Oregon Health and Science University. Dr. Mitalipov broke new ground last year by using gene editing to successfully remove a dangerous mutation from human embryos in a laboratory dish.

Dr. Mitalipov said that unlike his own work, which focuses on editing out mutations that cause serious diseases that cannot be prevented any other way, Dr. He did not do anything medically necessary. There are other ways to prevent H.I.V. infection in newborns.

Just three months ago, at a conference in late August on genome engineering at Cold Spring Harbor Laboratory in New York, Dr. He presented work on editing the CCR gene in the embryos of nine couples.

At the conference, whose organizers included Jennifer Doudna, one of the inventors of Crispr technology, Dr. He gave a careful talk about something that fellow attendees considered squarely within the realm of ethically approved research. But he did not mention that some of those embryos had been implanted in a woman and could result in genetically engineered babies.

What we now know is that as he was talking, there was a woman in China carrying twins, said Fyodor Urnov, deputy director of the Altius Institute for Biomedical Sciences and a visiting researcher at the Innovative Genomics Institute at the University of California. He had the opportunity to say Oh and by the way, Im just going to come out and say it, people, theres a woman carrying twins.

I would never play poker against Dr. He, Dr. Urnov quipped.

Richard Hynes, a cancer researcher at the Massachusetts Institute of Technology, who co-led an advisory group on human gene editing for the National Academy of Sciences and the National Academy of Medicine, said that group and a similar organization in Britain had determined that if human genes were to be edited, the procedure should only be done to address serious unmet needs in medical treatment, it had to be well monitored, it had to be well followed up, full consent has to be in place.

It is not clear why altering genes to make people resistant to H.I.V. is a serious unmet need. Men with H.I.V. do not infect embryos. Their semen contains the virus that causes AIDS, which can infect women, but the virus can be washed off their sperm before insemination. Or a doctor can inject a single sperm into an egg. In either case, the woman will not be infected and neither will the babies.

Dr. He got his Ph.D., from Rice University, in physics and his postdoctoral training, at Stanford, was with Stephen Quake, a professor of bioengineering and applied physics who works on sequencing DNA, not editing it.

Experts said that using Crispr would actually be quite easy for someone like Dr. He.

After coming to Shenzhen in 2012, Dr. He, at age 28, established a DNA sequencing company, Direct Genomics, and listed Dr. Quake on its advisory board. But, in a telephone interview on Monday, Dr. Quake said he was never associated with the company.

Austin Ramzy contributed reporting from Hong Kong and Elsie Chen contributed research from Beijing.

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CRISPR babies: new details on the experiment that shocked …

He Jiankui at the Human Genome Editing Conference in Hong Kong

Kin Cheung/AP/REX/Shutterstock

By Michael Le Page

On Monday, the world was stunned by an Associated Press story claiming that the first gene-edited babies had been born in China. On Wednesday, the scientist responsible revealed far more details during a talk at a gene-editing summit in Hong Kong, including that there is another pregnancy.

There hasnt yet been any independent verification that two gene-edited girls really have been born. But the technical details revealed by He Jiankui today may have been enough to convince many of the scientists in attendance. However, questions still remain over the ethicsand safety of the experiment.

The stated aim of theproject was to make individuals immune to HIV by disabling the gene for a protein called CCR5, which is exploited by the virus. However, disabling this gene does not provide complete protection against HIV and the broader consequences of knocking out this gene which is involved in immune function are unclear.

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The team began by using the CRISPR gene editing method to disable CCR5 in mice and monkeys, He said, and found no health or behavioural issues. But one of the organisers of the summit, Robin Lovell-Badge of the Francis Crick Institute in London, pointed out that immune genes affect the entire body, and that a different mouse study found that deleting CCR5improved their cognitive abilities.

Have you inadvertently caused an enhancement? Lovell-Badge asked He after the talk. The mouse study needed verification, He replied. I am against using genome editing for enhancement.

Another big safety issue is off-target effects the risk that CRISPRcausesunintended, harmful mutations elsewhere in the genome. To try to prevent this, Hes team sequenced the entire genomes of both parents. They then removed 3 to 5 cells from each of the edited embryos before implantation in the mother and fully sequenced them, too, to check for unwanted mutations.

Comparing the genomes revealed several new mutations in the two edited embryos for which resultshave been released. Only one of these mutations found in the embryo of the girl nicknamed Lulu might be due to CRISPR, He concluded. Its possible that this may be the case, because every individual has up to 100 new mutations by chance anyway.

The possible off-target mutation was judged by the team to be harmless because itisin a region of DNA that is far from any genes. According to the slides He presented, the parents were told about it and decided to proceed.

But CRISPR expert Gaetan Burgio of the Australian National University tweeted thatthe checks for off-target mutations were not good enough. For instance, they would not have detected any very large deletions of DNA, he said.

The final big safety issue with using CRISPR on embryos is something called mosaicism. If the eggs started dividing before the gene editing took place, the twin girls might have a mixture of cells with and without the edit. Whether they do or not was unclear from Hes talk.

Tests on the placenta and umbilical cord blood and tissue found exactly the same mutations in each sample for both twins, the slides reveal. But the potential off-target mutation was found only in the cells taken from the embryo and not in later samples, which does imply mosaicism. And Burgio told New Scientist that the results suggest both twins are mosaics. I cant believe they went ahead and implanted the embryos, he says.

Mosaicism is an issue for two reasons. Firstly, if an embryo is a mosaic then removing a few cells for testing is not enough to check the health and status of an embryo. Secondly, if Lulus immune cells developed from non-edited cells, they would still be completely vulnerable to HIV.

We know the other twin, Nana, is definitely still completely vulnerable to HIV. She has a 15-DNA-letter long deletion in one of the two copies of the CCR5 gene that probably will not be enough to disable the protein. And the other copy was not edited at all.

Questions had been raised over why Nanas embryo was implanted at all, but He said the parents were informed and decided to implant it.

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Stem Cell Use in Skin Care Products? – Science of Skincare

The science behind skin care has been progressing at a faster and faster rate of speed. Twenty years ago, had you mentioned stem cell use in association with mainstream skin care, people would have stared at you as though you had three heads and steered their children in a path far around you.

Reality today paints a much cooler picture. One where stem cells are used to treat a variety of blood and bone marrow diseases, blood cancers, and immune disorders. And we are finding stem cells, both human and plant, on the ingredients lists of some very powerful and effective skin care products. Stem cell use in skin care products is coming of age.

Stem cells are a type of cell that are found in all living things and have the glorious ability to differentiate themselves into many different types of cells. They are capable of becoming any other type of cell in that type of organism and reproducing in a controlled manner. As a result, they are the building blocks of your tissues and have the unique ability to replace damaged and diseased cells. They can proliferate for long periods, dividing themselves over and over again into millions of new cells. That means they can play a pivotal role in how skin repairs itself.

Stem cells are extremely beneficial in the natural process of healing and regeneration, says Jessica Weiser, M.D., a board-certified dermatologist in New York City.

Many beauty products contain stem cells from fruits like Swiss apples, edelweiss, roses, date palms, grape, raspberry, lilac, and gotu kola that have the ability to stay fresh for long periods of times.

Human stem cells come from one of two sources: embryonic stem cells and adult (somatic) stem cells. For the case of skin care, stem cells of the adult origin are used. They remain in the body quietly in a non-dividing state for years until activated by disease or injury.

Because they play an essential role in tissue removal, stem cells residing just below the surface of the skin can help with restorative functions, such as cellular regeneration, and could play a vital role in helping to enhance our ability to repair aging skin.

You start off with an abundance of stem cells in your skin, but you lose them as you age. By the time you hit 50, youve lost about 98% of them.

The working theory is that by applying products containing stem cell extracts, you could encourage the growth of your own skins stem cells and possibly wake them up to trigger their anti-aging effects. Some research suggests that they can promote the production of collagen, which is the bodys firming protein.

Live cells need very specific conditions to remain alive and viable. Its difficult enough to maintain those conditions in a laboratory setting. Skin care products and their environments dont offer those types of conditions. When stem cells are included in skin care products, makers arent looking to provide you with live, functional cells. Extracts from the stem cells, not the actual cells themselves, are usually added to skin care products. Its not possible to maintain live stem cells in cosmetic emulsions, says Zoe Diana Draelos, a consulting professor of dermatology at the Duke University School of Medicine in Durham, North Carolina.

Most stem cell products you see on the shelf dont actually contain stem cells, but rather the proteins and amino acids that those cells secrete. Typically, if you see a product labeled as a stem cell product, youll see the stem cells key substances in the ingredients list. These include ferulic acid, ellagic acid, and quercetin. This is what your body is able to recognize and put to use to help rejuvenate and repair cells. Human stem cell byproducts (from skin or adipose tissue) seem to be the best solution for use in skin care products because of their ability to produce the same types of cellular components that your body uses naturally to maintain a youthful appearance.

Cultivating stem cells is a tedious process involving a very controlled environment without any contaminants in order to yield the most potent, stable, and pure extract. Because of this technology, the cost of stem cell products are usually greater than products without.

MDSUN is a perfect collaboration between medicine and beauty with the ability to deliver the highest quality skin care products, giving you long-lasting radiance and youth. Each formulation is effective, while free of harsh ingredients, perfumes, or chemical scent additives.

They offer multiple options incorporating powerful stem cell technology with proven effective results. The Wrinkle Smoothener reduces wrinkle depth and improves skins texture while quenching skin-damaging free radicals. It can stimulate skin repair and diminish the appearance of aging skin.

The Collagen Lift is a very potent treatment that can deliver obvious results, minimizing the appearance of wrinkles and lines, improving skin texture and tone. This luxurious gel-cream soothes redness and irritations and rejuvenates skin cells for a strong and long-lasting radiant renewal.

The Med-Eye Complex Cream visibly promotes firmness, increases blood circulation and deeply hydrates the eye area to reduce the signs of aging, lending a youthful appearance and glow.

Here is the original post:
Stem Cell Use in Skin Care Products? – Science of Skincare

Recommendation and review posted by Bethany Smith

EXCLUSIVE: Chinese scientists are creating CRISPR babies …

When Chinese researchers first edited the genes of a human embryo in a lab dish in 2015, it sparked global outcry and pleas from scientists not to make a baby using the technology, at least for the present.

It was the invention of a powerful gene-editing tool, CRISPR, which is cheap and easy to deploy,that made the birth of humans genetically modified in an in vitro fertilization (IVF) center a theoretical possibility.

Now, it appears it may already be happening.

According to Chinese medical documents posted online this month (hereand here), a team at the Southern University of Science and Technology, in Shenzhen, has been recruiting couples in an effort to create the first gene-edited babies. They planned to eliminate a gene called CCR5 inhopes of rendering the offspring resistant to HIV, smallpox, and cholera.

Southern University of Science and Technology

The clinical trial documents describe a studyin which CRISPR is employed to modify human embryosbefore they are transferred into womens uteruses.

The scientist behind the effort, He Jiankui, did not reply to a list of questions about whether the undertaking had produced a live birth. Reached by telephone, he declined to comment.

However, data submitted as part of the trial listing shows that genetic tests have been carried out on fetuses as late as 24 weeks, or six months. Its not known if those pregnancies were terminated, carried to term, or are ongoing.

[After this story was published, the Associated Press reported that according to He, onecouple in the trialgave birth to twingirls this month,though the agency wasn’t able to confirm his claim independently. He also released a promotional video about his project.]

The birth of the first genetically tailored humans would be a stunning medical achievement, for both He and China. But it will prove controversial, too. Where some see anew form of medicinethat eliminates genetic disease, others see a slippery slope to enhancements, designer babies, and a new form of eugenics.

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The step toward genetically tailored humans was undertaken in secrecy and with the clear ambition of a stunning medical first.

In this ever more competitive global pursuit of applications for gene editing, we hope to be a stand-out, He and his team wrote in an ethics statement they submitted last year. They predicted their innovation will surpass the invention of in vitro fertilization, whose developer was awarded a Nobel Prize in 2010.

Gene-editing summit

Theclaim that China has already made genetically altered humans comes just as the worlds leading experts are jetting into Hong Kong for the Second International Summit on Human Genome Editing.

The purpose of the international meetingis to help determine whether humans should begin to genetically modify themselves, and if so, how. That purpose now appears to have been preempted by the actions of He, an elite biologist recruited back to China from the US as part of its Thousand Talents Plan.

The technology is ethically charged because changes to an embryo would be inherited by future generations and could eventually affect the entire gene pool.We have never done anything that will change the genes of the human race, and we have never done anything that will have effects that will go on through the generations, David Baltimore, a biologist and former president of the California Institute of Technology, who chairs the international summit proceedings, said in a pre-recorded message ahead of the event, which begins Tuesday, November 27.

It appears the organizers of the summit were also kept in the dark about Hes plans.

Regret and concern

The genetic editing of a speck-size human embryo carries significant risks, including the risks of introducing unwanted mutationsor yielding a baby whose body is composed of some edited and some unedited cells. Data on the Chinese trial site indicate that one of the fetuses is a mosaic of cells that had been edited in different ways.

A gene-editing scientist, Fyodor Urnov, associate director of the Altius Institute for Biomedical Sciences, a nonprofit in Seattle, reviewed the Chinese documents and said that, while incomplete, they do show that this effort aims to produce a human with altered genes.

Urnov called the undertaking cause for regret and concern over the fact that gene editinga powerful and useful techniquewas put to use in a setting where it was unnecessary. Indeed, studies are already under way to edit the same gene in the bodies of adults with HIV. It is a hard-to-explain foray into human germ-line genetic engineering that may overshadow in the mind of the public a decade of progress in gene editing of adults and children to treat existing disease, he says.

Big project

In a scientific presentation in 2017 at Cold Spring Harbor Laboratory, which is posted to YouTube, He described a very large series of preliminary experiments on mice, monkeys, and more than 300 human embryos. One risk of CRISPR is that it can introduce accidental or off target mutations. But He claimed he found few or no unwanted changes in the test embryos.

He is also the chairman and founder of a DNA sequencing company called Direct Genomics. A new breed of biotech companies could ultimately reap a windfall should the new methodsof conferring health benefits on children be widely employed.

The National Academies of Science, Engineering and Medicine

According to the clinical trial plan, genetic measurements would be carried out on embryos and would continue during pregnancy to check on the status of the fetuses. During his 2017 presentation, He acknowledged that if the first CRISPR baby were unhealthy, it could prove a disaster.

We should do this slow and cautious, since a single case of failure could kill the whole field, he said.

A listing describing the study was posted in November, but other trial documents are dated as early as March of 2017. That was only a month after the National Academy of Sciences in the US gave guarded support for gene-edited babies, although only if they could be created safely and under strict oversight.

Currently, using a genetically engineered embryo to establish a pregnancy would be illegal in much of Europe and prohibited in the United States. It is also prohibited in China under a 2003 ministerial guidance to IVF clinics. It is not clear if He got special permission or disregarded the guidance, which may not have the force of law.

Public opinion

In recent weeks, He has begun an active outreach campaign, speaking to ethics advisors, commissioning an opinion poll in China, and hiring an American public-relations professional, Ryan Ferrell.

My sense is that the groundwork for future self-justification is getting laid, says Benjamin Hurlbut, a bioethicist from Arizona State University who will attend the Hong Kong summit.

The new opinion poll, which was carried out by Sun Yat-Sen University, found wide support for gene editing among the sampled 4,700 Chinese, including a group of respondentswho were HIV positive. More than 60% favored legalizing edited children if the objective was to treat or prevent disease. (Polls by the Pew Research Center have found similar levels support in the US for gene editing.)

Hes choice to edit the gene called CCR5 could prove controversial as well. People without working copies of the gene are believed to be immune or highly resistant to infection by HIV. In order to mimic the same result in embryos, however, Hes team has been using CRISPR to mutate otherwise normal embryos to damage the CCR5 gene.

The attempt to create children protected from HIV also falls into an ethical gray zone between treatment and enhancement. That is because the procedure does not appear to cure any disease or disorder in the embryo, but instead attempts to create a health advantage, much as a vaccine protects against chicken pox.

For the HIV study, doctors and AIDS groups recruited Chinese couples in which the man was HIV positive. The infection has been a growing problem in China.

So far, experts have mostly agreed that gene editing shouldnt be used to make designer babies whose physical looks or personality has been changed.

He appeared to anticipate the concerns his study could provoke. I support gene editing for the treatment and prevention of disease, He posted in November to the social media site WeChat, but not for enhancement or improving I.Q., which is not beneficial to society.

Still, removing the CCR5 gene to create HIV resistance may not present a particularly strong reason to alter a babys heredity. There are easier, less expensive ways to prevent HIV infection. Also,editing embryos during an IVF procedure would be costly, high-tech, and likely to remain inaccessible in many poor regions of the world where HIV is rampant.

A person who knows He said his scientific ambitions appear to be in line with prevailing social attitudes in China, including the idea that the larger communal good transcends individual ethics and even international guidelines.

Behind the Chinese trial also lies some bold thinking about how evolution can be shaped by science. While the natural mutation that disables CCR5 is relatively common in parts of Northern Europe, it is not found in China. The distribution of the genetic trait around the worldin some populations but not in othershighlights how genetic engineering might be used to pick the most useful inventions discovered by evolution over the eons in different locations and bring them together in tomorrows children.

Such thinking could, in the future, yield people who have only the luckiest genes and never suffer Alzheimers, heart disease, or certain infections.

The text of an academic website that He maintains shows that he sees the technology in the same historic, and transformative, terms. For billions of years, life progressed according to Darwins theory of evolution, it states. More recently, industrialization has changed the environment in radical ways posing a great challenge that humanity can meet with powerful tools to control evolution.

It concludes: By correcting the disease genes we human[s] can better live in the fast-changing environment.

Note: This story was updated after publication to include claims by He Jiankui thatthe trial had produced live births.

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EXCLUSIVE: Chinese scientists are creating CRISPR babies …

Recommendation and review posted by Bethany Smith

Chinese University ‘Shocked’ By News of First CRISPR …

Its not the usual way that reputable scientists announce their breakthroughs to the world, but on Monday, Jiankui He released a video proclaiming that he had produced the worlds first human babies whose genomes were edited using the powerful technique called CRISPR. He had also previously spoken with the Associated Press about his study, which he says resulted in twin girls born with the first genomes edited by man.

The report was met with instant concern and skepticism by the scientific community. Hes experiment altered the genomes of embryos produced through IVF; their genetic changes will therefore be passed on to any future generations. Whats more, most experts in CRISPR are not convinced that the technology is ready or safe for treating humans.

Given the current early state of genome editing technology, Im in favor of a moratorium on implantation of edited embryos until we have come up with a thoughtful set of safety requirements first, Feng Zhang, one of the co-discoverers of CRISPR and from the Broad Institute of MIT and Harvard, said in a statement responding to the report. Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial.

In 2015, prominent members of the scientific community familiar with the technology, including Zhang and another co-discoverer, Jennifer Doudna from University of California, Berkeley, agreed to voluntarily stop research on using CRISPR in human embryos because the safety and long term consequences of the technology were too uncertain. The researchers support studies in which CRISPR is used to develop treatments that would affect cells that arent passed on to the next generation i.e. anything except egg and sperm but say that more research is needed before CRISPR is used to make changes in genomes that can be carried by generation after generation.

While editing the DNA of a human embryo is not currently allowed in the U.S., in 2017, an international committee of the National Academy of Sciences called for loosening the moratorium and allowing trials of CRISPR in human embryos, under strict oversight, to treat rare genetic diseases that cant be addressed in any other way. In the U.K., officials approved studies of CRISPR in human embryos in 2016, but those embryos will not be transplanted to create a pregnancy. Those trials call for destroying the embryos after a week, since the technologys safety remains unclear.

He, on the other hand, has apparently jumped ahead to producing the first human babies born with CRISPR editing. He is on the faculty of Southern University of Science and Technology in Shenzhen China, but in a statement released in response to Hes videos, the university said he is on unpaid leave from February 2018 to January 2021; officials did not provide a reason for the leave.

The University was deeply shocked by this event and has taken immediate action to reach Dr. Jiankui He for clarification, the officials said in the statement. The research was conducted outside of the campus and was not reported to the University nor the Department [to which He belongs]. The statement went on to note that the university believes that Dr. Jiankui Hes conduct in utilizing CRISPR/Cas9 to edit human embryos has seriously violated academic ethics and codes of conduct The University will call for international experts to form an independent committee to investigate this incident, and to release the results to the public.

CRISPR, first described in 2012, gives scientists the most precise and effective way to edit the human genome by snipping out offending mutations or genes and either allowing the genome to repair itself or providing researchers with the ability to insert new genetic material to correct disease genes. But studies suggest that controlling CRISPR in human cells remains a challenge; in some cases CRISPR may cut unintended parts of the genome.

In his promotional video, He describes targeting the CCR5 gene, which helps the HIV virus enter healthy human cells. He worked with seven heterosexual couples in which the male partner was HIV positive and the women were HIV negative. After the couples produced embryos through IVF, he used CRISPR to cut the CCR5 gene, disabling it in the hopes of making the embryos less vulnerable to HIV infection. He claims that of 22 embryos, 16 showed signs of successful CRISPR editing, and 11 were implanted, resulting in a single pregnancy with twin girls who were born in November. One twin, according to Hes tests, showed signs that both copies of the CCR5 gene it inherited (one from its mother and one from its father) were successfully altered, while the other twin showed that one version of the gene it inherited was altered.

That so-called mosaicism, in which some but not all of the embryos cells are altered, is troubling since in this case, it would mean that girl may not be entirely protected from HIV infection like her sister. Thats one of the reasons why researchers are concerned about the report. Normally such scientific milestones are reported in scientific journals complete with detailed descriptions of how the researcher accomplished the feat along with data supporting their claims. Without such documentation, its impossible to verify whether the girls indeed showed successful CRISPR editing or not.

He, who created two companies based on his studies, is scheduled to present his findings at the Second International Summit on Human Genome Editing, and will certainly be the target of numerous questions from the leading gene-editing scientists in attendance.

Contact us at editors@time.com.

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Chinese University ‘Shocked’ By News of First CRISPR …

Recommendation and review posted by Bethany Smith

Consumer Genetic Testing Is Booming: But What are the …

Initially a Niche Market for Very Few with Small Population Impact

The first genetic tests directly available to consumers for health were offered in 1996. The concept, then, was both audacious and bold: the idea that individuals could explore their own human genome without the aid of a health care provider to order the test or interpret the results. Some consumer

The world has changed. In the last two years, personal genomics usage has exploded

advocates praised the development as empowering, while many medical and public health experts advised caution, given the lack of evidence that results were clinically useful and that the risk for potential harms was unknown. Meanwhile, the direct-to-consumer (DTC) genetic health test industry grew relatively slowly during the first two decades of its existence. During that time, personal genomics for any purpose was often perceived as a mere curiosity purchased by only a few wealthy individuals.

The world has changed. As reported in the May 22, 2018 Science News special report, personal genomics usage has exploded from what might have once been considered an unlikely source: mushrooming consumer interest in genealogy. Genealogy has grown dramatically to become the second most popular hobby in the United States and the second-most popular internet surfing topic. In recent years, costs for genetic ancestry tests have dropped dramatically and demand has responded in kind. Generally, the tests focus on identifying genetic variants important to ones cultural and geographic heritage and are not thought to involve health issues though it is conceivable they could raise important questions. For example, if one discovered previously unknown Ashkenazi Jewish ancestry, additional risk for certain genetic conditions might be discussed with ones physician.

Recent sales for DTC genetic health tests increased dramatically when several DTC test providers began bundling their popular DNA genealogy package with their health package. We find DTC tests for health concerningconducted as they often are without the involvement of a healthcare provider and without an understanding of clinical validity and utilityas we have detailed in our blogs: Think Before You Spit, Think (Again) Before You Spit, and Think After You Spit. Despite these valid concerns, bundled ancestry and health packages have been selling like hotcakes. While specific sales data for health related DTC tests are not publicly available, we can easily guess their significance. In late 2017, a bundled genealogy and health DNA test was one of Amazons top five Black Friday sellers. Meanwhile, overall, genetic tests for ancestry have continued to skyrocket. The total number of people who have taken direct to consumer genealogy tests was reported to have increased two fold in 2017 with the total number of people who have participated at greater than 12 million and rising.

Many questions come to mind that require better population level data to answer.

As the number of people who have participated in DTC genetic tests rises into the millions, these questions are becoming increasingly important to answer as a public health priority. What data we do have about consumer knowledge on genetic tests provides further reason for concern. A recent study based on an online survey of 1,001 adults representative of the population, found that public awareness of genomics and personalized medicine was not increasing in line with advancements in the industry. Seventy-three percent of the survey respondents had not heard of genetic counseling which is conducted by certified health professionals to advise consumers/patients on how to interpret genetic test results.

We need to know a lot more. We could better understand these issues by including questions about DTC genetic test awareness, usage, and impact in population-based surveysan approach used successfully in the past. (Examples include those reported by Jacobellis in 2004, Goddard in 2009, Kolor in 2012, and Agurs-Collins in 2015.)

With current and expanded data on use and impact of DTC genetic health tests, we can take steps to empower consumers to make more informed choices about their health behaviors and health resource expenditures. These measures could include providing:

One thing has become clear: DTC genetic tests, including those for health purposes, are now mainstream. Both before and after deciding to purchase, it is essential that the general public understands the potential harms and benefits of applications marketed or interpreted for health relevance. An important role for public health is to provide unbiased evidenced-based information. The CDC Office of Public Health Genomics will continue to provide regularly updated and searchable data on DTC tests in our Public Health Genomics Knowledge Base (PHGKB). Additional information on this topic can be found on our website and our Genomics and Health Weekly Update. In future blog posts, we will further explore the implications of consumer genetic testing on the health of individuals and populations.

As always, we welcome your comments and questions.

See the rest here:
Consumer Genetic Testing Is Booming: But What are the …

Recommendation and review posted by Bethany Smith

Preimplantation Genetic Diagnosis, PGS Testing, PGD Testing

Genetic Testing

If you or your partner have experience with genetic disorders in your family or simply need the security that comes from utilizing the best resources available, it is important to consider the use of genetic testing during your treatment. Not only does this state-of-the-art technology make IVF safer, as we are reducing the risk of pregnancy loss, but it also reduces the chance (and cost) of multiple cycles since we may ensure transfer of only the healthiest embryos. Genetic tests are performed on embryos to ensure the health of the chromosomes. Normally, there are 24 chromosomes (22 autosomes and an X and a Y chromosome).

The availability of genetic testing also allows our center to highlight the benefits of our less is more philosophy, which focuses on single embryo transfers to reduce the chance of multiple pregnancies. Transferring multiple embryos and resulting multiple pregnancies/births are stressful on the uterine environment, significantly decreasing the chance of a healthy pregnancy and increasing the chance of premature births.

It is common for patients to ask about the difference between PGD and PGS. The difference is significant and yet subtle. The purpose of PGD is to diagnose abnormal embryos to ensure that they are not transferred back into your uterus and improve your chances of having a healthy baby. PGD can only be run if you know that you or your partner are carriers of a genetic disorder. A special probe will be created to test for the specific disorder(s) that a couple is known to have. PGS on the other hand will screen for and identify unknown chromosomal abnormalities. This is better for patients who have a history of miscarriages or failed IVF cycles due to unknown circumstances. Most of our patients undergo PGS or Preimplantation Genetic Screening, but be sure to ask which one is right for you.

Genetic testing is very safe for both you and your embryos. We are not making designer babies, so there are no ethical issues to worry about. Some couples are concerned that the procedure will affect their chances of pregnancy, or more importantly, the health of their embryo. Because the procedure is done so early in the developmental process, at a time when cells from the embryo can potentially be removed, our genetic testing does not cause any harm to the developing embryo. Genetic testing is a vital resource for many couples, especially those with known family histories of genetic defects.

PGD/PGS/NGS can offer genetic screeningfor numerous diseases and disorders classified as either chromosomal disorders, single gene defects, or sex-linked disorders. Specific chromosomes are tested for specific disorders, including (but not limited to):

*PLEASE ASK OUR STAFF WHICH TESTS ARE RECOMMENDED FOR YOU*

New Hope Fertility embryologists can also test for X-linked diseases, which only affect males, (e.g. Hemophilia A, Adrenoleukodystrophy, Hunters disease) by identifying the sex of embryos and transferring only female embryos. We also offer PGD for single gene defects such as Cystic Fibrosis (CF), the common deletion (^F508), Spinal Muscular Atrophy (SMA), and Myotonic Dystrophy (DM).

NHFC also performs aneuploidy screening and chromosome translocations to detect abnormalities that may cause spontaneous abortions in early pregnancy. We can perform PGD for all single gene defects where the specific mutation is identified and as long as we can develop a special genetic probe for the disease.

New Hope Fertility Center of New York City is among the top NYC fertility clinics brings together a team of world-class, best fertility specialists that are committed to bring you the best of tomorrows IVF treatment, today. Our NYC fertility center named the Top Clinic of 2017 and is on top of the Forbes list of fertility centers in US. Dr. Zhang has been named among New Yorks Top Doctors

(Click the links below for more infertility information)

More here:
Preimplantation Genetic Diagnosis, PGS Testing, PGD Testing

Recommendation and review posted by Bethany Smith

Free Review of Ancestry Dna Tests | Genetics Digest

Dear Reader,

This article is about information that most DNA test companies arent expecting you to readDid you know that the market for DNA tests has become fiercely competitive in the last year?In fact, the market has more than doubled in size. More people took a DNA test in 2017 than in ALL previous years combined! 2018 is expected to be another record-shattering year.

Its no surprise that DNA tests are in high demand. The things you learn from them are irresistible:

Ancestry Everything weve ever known about our heritage has come from our parents and grandparents. A DNA test can tell you so much more about who you are and where youre from. Most companies offer this basic service, but some are far better than others.

Family History This kind of goes hand-in-hand with Ancestry. If youre trying to sort out family mysteries, a DNA test can help you solve them. If your parents also have their DNA tested, you can sometimes sort out which genes you received from each side of the family.

Community Finding out your genetic heritage gets you a deeper connection to the places that youre from. On top of this, some of the best DNA test companies will connect you with people who share pieces of DNA with you. Many people use this feature to discover long-lost relatives.

Health Risks Some DNA tests can reveal unique traits embedded in your genetic code that may put you at risk for certain health conditions. This can help you alter your lifestyle to try and prevent them.

Family Planning A DNA test can help you find out what genes you may pass onto your children, for better or worse.

With so many people clamoring to get their hands on the benefits listed above, more and more DNA test companies have been rising to meet them. Unfortunately, theyre not all created equal.

Now its harder than ever to find a good DNA test

Luckily, youre in the right place. Our team of scientists, researchers, and writers at Genetics Digest know the field better than most. Weve examined nearly every DNA test in the booming market. Well help you sort out the great ones from the cheap knockoffs.

With that said, lets get started on Common Mistakes People Make When Shopping for a DNA Test

Mistake #1: Dont buy a brand by how popular it appears to be.

Some brands have a great marketing team with a massive advertising budget. You might see/hear their ads everywhere. Thats because theyre spending millions to make sure youve heard of them.

Despite the great marketing, some of those companies have subpar services at best. Theyre more worried about making a sale than they are with actually delivering a quality product.

To be clear, a popular company with great marketing does NOT necessarily mean that they have a bad service. A couple of them have really great services! But you shouldnt assume that they have a great service just because they appear to be popular, and you also shouldnt write off lesser-known companiessome of these are new up-and-coming services who will eventually rise to the top of the market. They give you a unique opportunity to be along for the ride.

Mistake #2: Dont buy the cheapest OR the most expensive genetic test you can find.

The old mantra You get what you pay for applies here. However, price is a tricky quality to navigate.

On the one hand, you dont want something too cheap. A cheap Ancestry DNA test is most likely not the best dna test and will likely give you very little information. These tests will tell you things you already know about yourself, like which continent your genes came from. Sometimes cheap tests are simply trying to undercut the marketThey may be selling at a loss up front with the hopes that customers will buy more from them later.

On the other hand, you dont want to get ripped off by an over-priced DNA test. Expensive DNA tests may have a great product, but you can often find a product of similar (or even better) quality at a cheaper price.

You have to strike a comfortable middle ground. In our experience, roughly $100 is a fair price for a quality DNA test (give or take a few dollars). Aiming for a test around this amount will help ensure that you get a good product without over-paying.

Mistake #3: Dont confuse Accuracy with Precision.

Almost every DNA test company on the market claims to be the most accurate. Theyre not lying. DNA tests are typically 99.9% accurate. However, theyre often not precise.

Whats the difference between Accuracy and Precision?

For something to be accurate, it just needs to be true. If you have European heritage and your Ancestry DNA test comes back with results that simply say European, then its an accurate test. Its giving you results that are true, even if theyre not detailed.

For something to be precise, it has to be an exact expression of details. The most precise DNA tests currently on the market have at least 20 unique regions they use in their Ancestry reports. The best companies will have multiple regions on each continent in their reports (rather than having most of their tested regions all on the same continent).

However, you have to be wary of companies overselling how precise their tests are. Some companies claim to have hundreds of regions in their reports. In our experience, this is bending the truth a bit. Most of them really test for 20-30 regions, but then list the names of countries that are contained within those regions without actually testing DNA for them.

For example, if a DNA test determines that someone has Iberian Ancestry, one of these companies might list Spain and Portugal underneath and count those as 2 regions for marketing purposes even though they dont give a percentage breakdown for how much Iberian Ancestry is Spanish or Portugese.

In other words, some companies can be a little misleading with their marketing.

Our Top 3 Recommended DNA Tests

Now that weve shown you what to look out for, we want to share with you some of the best Ancestry DNA tests weve seen for discovering your heritage. .

We ranked the services by these 10 factors: 1) Company Reputation 2) Services Offered 3) Testing Method 4) Software Grade 5) Research & Scientific Evidence 6) CLIA Compliance 7) Customer Reviews 8) Price 9) Customer Service 10) Return Policy

Our Top Choice

CRI Genetics stands out as the best DNA Test for Ancestry for a few specific reasons. First, theyre headed by renowned genetic scientist with a reputation for leading exceptional studies in genetic science. While most genetic testing services rely on other peoples past research to produce their ancestry reports, CRI Genetics relies on someone who is currently doing Genome research.

Company Reputation:

CRI Genetics is led by Alexei Fedorov, Ph.D., who was mentored by Nobel Prize winning scientists at Harvard University and has gone on to spearhead many genetic studies of his own. As a company, CRI Genetics has established themselves as one of the top players in quality of service. They are the only DNA testing company we have come across that has any sort of money-back guarantee.

Details/Accuracy of Reports:

CRI Genetics currently offers 5 unique ancestry reports that are generated using a patented DNA analysis algorithm created by Alexei Fedorov. From a basic geographical breakdown of your Ancestry to a detailed history of your maternal or paternal line to an interactive Ancestry Timeline that pinpoints the year that certain heritages entered your family, the overall level of detail across all CRI Genetics reports is unmatched.See Full Report Here

#2 Choice

Company Reputation:Family Tree DNA was founded in the year 2000 by Bennett Greenspan, a businessman who was trying to solve mysteries within his own family history. The first tests offered to customers were very simple compared to todays DNA tests, but were considered advanced at the time.

Details/Accuracy of Reports:Today, Family Tree DNA offers a small range of reports with an above average level of detail. Their biggest strength is a very large database of customers, which helps with accuracy. View Full Report

#3 Choice

Company Reputation:Living DNA is a fairly young company, but have quickly risen in the ranks of DNA Testing companies with a vast network of connections with DNA experts. One thing is clear to us here at Genetics Digest: Living DNA is loved by their customers.

Details/Accuracy of Reports:Living DNAs Ancestry Reports have details for 80+ regions worldwide, but 21 of those regions are in Ireland and the United Kingdom. If you have a lot of British or Irish DNA, then this is definitely an interesting service for you to try. However, if your Ancestry is anything else, Living DNA is on par with most other services. View Full Report

Link:
Free Review of Ancestry Dna Tests | Genetics Digest

Recommendation and review posted by Bethany Smith

OHCA – Genetic Testing

Molecular pathology services, including genetic testing, are rapidly becoming the standard of care in diagnostic medicine and other related areas. OHCA is committed to ongoing evaluation of the clinical evidence supporting the use of these services to ensure that medically necessary tests and technologies are available to our members.

On the OHCA proposed rule changes page, there is a sign up button for Web Alerts. These Web Alerts will send an email notification when there is a new posting for a proposed rule change. With each posting on this page, there is an opportunity to complete an electronic feedback form.

The OHCA seeks advice and consultation from medical professionals, professional and tribal organizations, and the general public in developing new or amended policies and rules. The proposed rule changes page is designed to give all constituents an opportunity to review and make comments regarding upcoming rule changes.

Disclaimer: The OHCA rules found on this Web site are unofficial. The official rules are published by the Oklahoma Secretary of State Office of Administrative Rules as Title 317 of the Oklahoma Administrative Code. To order an official copy of these rules, contact the Office of Administrative Rules at (405) 521-4911.

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OHCA – Genetic Testing

Recommendation and review posted by Bethany Smith

12 Pros and Cons of Genetic Testing | Biology Explorer

Pros and Cons of Genetic Testing: The human body is composed of millions of cells, which are considered as the basic units of life. Inside each cell lies the genetic material or the DNA (Deoxyribonucleic Acid).

Short sections of DNA are called together as the gene. The gene is also dubbed as the basic unit of heredity as it contains the information and instructions that dictate how the body should develop and function. Also, the gene is also important in the expression of inheritable characters and traits.

Previously weve seen disadvantages of genetically modified foods and genetic engineering pros & cons. In this article, well explore the pros and cons of genetic testing.

Genetic testing is a type of health program that involves the identification of any changes in genes, chromosomes, and proteins.

Do you have a family history of acquiring a specific disease? Or are you planning to have a child but afraid that he/she might inherit a trait you wouldnt want to? Genetic testing is the solution to all of these questions. The results of a genetic test confirm and eliminate the possibility of any suspected genetic disorder. Such results will be highly advantageous for the early treatment and prevention of diseases.

There are a lot of types of genetic testing depending on what you want to test. Genetic testing can range from biochemical tests, molecular approach, or simply family history questionnaires. To perform a genetic test, a tissue from any organ that usually develops during pregnancy can be obtained. Examples of such are the placenta, amniotic fluid (pregnant womans water), bone marrow, or blood.

Now we will explore the pros and cons of genetic testing. First, lets focus on pros.

There are a lot of potential advantages which can arise as a result of genetic testing. The following are some of them.

As with any disease, early diagnosis of the disease will greatly help in faster treatment. The results of genetic testing can also help your healthcare provider in predicting the likelihood and deciding about the management of the disorder. In addition, the results of the test can also help one to learn more about the genetic disease and how it may possibly affect them and their relatives as well.

For some people, finding out that they do not have the gene for a certain disease can become a blessing. They may feel a lot more peace because of the fact that they have not passed any gene abnormality to their children. In addition, because they no longer require the same type of medical treatment as with people who have the gene, the resources can be allotted to those who have the risk of having the disease.

Genetic tests can be helpful in establishing evidence for the parenthood of a person for a case like child custody and support. The results of genetic test can also be used as a support for placing a parents name on the birth certificate of a child. Depending upon the country/state where you live in, DNA testing can be ordered by the judge for settling disputes in child custody laws.

For instance, if there is a low probability of passing a certain unwanted genetic condition, couples can have be assured that they can have children free of the disorder. On the other hand, a positive result may give the couple an idea of deciding not to have children because doing so may result to a high risk of their child developing the condition.

Like how it can determine parenthood, being genetically tested can be helpful is determining and interpreting developmental delays in children. Reasons for significant lags in physical, mental, and emotional growth can be determined.

Also if a woman has two or more miscarriages or pregnancy over age 34, genetic testing will be helpful for early diagnosis which can help identify the appropriate treatment options.

While the process has great advantages indeed, there are several disadvantages that a person who wishes to undergo testing should be aware of. The following are some of them.

The physical risks associated with most genetic tests are indeed very small as some tests only require mere blood or tissue samples. However, some tests can be really destructive. As an example, the methods for prenatal testing involves the acquisition of amniotic fluid around the fetus. Such practice can be really dangerous because the mother may suffer from miscarriage.

As alluded to earlier, the results of genetic testing can provide freedom from any uncertainty. However, in some cases, the results of genetic testing may create an emotional trauma for the person who finds out that he/she has a certain disease. It can lead to an increased anxiety to the individual as he might blame himself for possessing a gene that causes the disorder and potentially passing it onto their children.

About this, the results of these tests may also create tension among family members when information about a family member is revealed. Having a negative test can cause emotional distress to the person because it gives him/her the feeling of survivor guilt from being unaffected by the disease while his/her sibling is at risk.

Genetic discrimination is the condition wherein a person feels and gets discriminated due to the fact that he/she possesses a genetic abnormality that increases the chances of him/her developing a certain genetic disorder. And because the results of genetic tests are included in a persons medical history, the fact that he/she has this abnormality becomes known to employers and other people in the workplace. As a result, people may treat him/her differently.

While it is true that some tests can be very specific about the genetic disorder, these test often cannot tell the severity of the manifestation of the disease. Also, a negative result may not be conclusive because it is not possible for a single test to identify all the genetic changes and abnormalities in a certain disorder. Because of this, additional tests may be necessary. Another thing is that while most genetic disorders can be easily diagnosed using these tests, there are still potentially millions of genetic mutations which are still not understood. Furthermore, treatment strategies are still lacking.

For instance, one disadvantage of using biochemical test as a genetic test is that proteins from the tissue samples are more unstable that the gene itself. Easy deterioration of samples means a higher chances of inaccuracy in the results. Therefore, they should be properly stored and analyzed immediately after obtaining.

Basically, the price of having genetic test will depend on various factors including the type of test and the clinic you visit. According to the National Human Genome Research Institute, the average cost of genetic testing in the US can range from less than $100 to $2,000! And as mentioned above, a single test may not be able to determine all genetic abnormalities so additional tests may be advised. The expensive price of genetic testing is only suitable for a small groups of patients because only those who can afford it can be tested.

It is important to note that not all tests have the same predictability. The accuracy of any result would be of course depend on whether the disorder is caused by an abnormality of the gene and chromosome or just a mere result of acquisition from the environment.

According to a study by the Harvard School of Public Health, a large majority of Americans are not into adopting this kind of genetic technology. In fact, only 6 percent of adults said that they had undergone genetic testing. While genetic testing is not compulsory, just like any medical intervention, this technique aims to do good than to harm.

However, some consequences of the process are inevitable. Therefore, to avoid such complications, it is vital to have counseling before and after genetic testing. In this way, individuals are free to choose whether they want to or dont want to undergo testing. And if needed, they could have extra support.

So if youre planning to be genetically tested, you might want to ponder about this question: Is having genetic testing a mere trend that offers unproven hope, or does it represent the first sign of treatment for affected patients? What do you think?

12 Pros and Cons of Genetic Testing

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12 Pros and Cons of Genetic Testing | Biology Explorer

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Heart Failure Signs | Cardiac Stem Cell Therapies: Heart …

Human life is dependent upon the hearts ability to pump forcefully and frequently enough, but heart failure signs can disturb its normal function. Most humans cannot live more than four minutes without a heartbeat or continuous blood-flow. At that time, brain cells begin to die because they lack adequately oxygenated blood-flow.

The human adult body requires, on average, 5.0 liters of re-circulated blood per minute. In the cardiology field, this metric is called the Cardiac Output, which is calculated as Stroke Volume (SV) x Heart Rate (HR). Another key metric is a patients Ejection-Fraction (EF %). A patients EF tells a cardiologist and other physicians if his or her heart is functioning normally or low normally. It is a measurement of ones heart contraction, with a normal EF range being 55-70%.

This number can also be combined with a patients heart rate to provide physicians with a baseline of a patients cardiac status. A normal range for an adult is 60-100 beats per minute, and this can be significantly higher during a normal pregnancy.

In this article:

For a cardiologist, cardiac metrics indicate if their services are required and allowthem to sign-off on pre-operative cardiac clearances. For other physicians, it tells them if the organ which they specialize in is being perfused adequately (for example, a nephrologist would be interested to know kidney perfusion). It can also indicate the degree to which decreased heart function may affect the severity or spread of disease.

When the heart fails to contract forcefully enough and its performance decreases to the point where its ability to circulate blood adequately is compromised (the EF% falls below 40%), this is considered heart failure. The clinical parameters of heart failure are clearly defined by the New York Heart Association (NYHA), which places patients in NYHA Class III & IV into the heart failure category.

An echocardiogram (often called an Echo), as opposed to an Electrocardiogram (EKG or ECG), allows technicians and physicians to visualize the beating heart. Video clips of the heart contracting are digitally recorded, and a patients EF and Cardiac Output (CO) can be measured with several diagnostic tools (Fractional Shortening via 2D or M-Mode measurements and Simpsons Method via 2D and 3D Quantification) on a cardiovascular ultrasound system.

When an experienced echo tech or cardiologist views a failing heart, it is immediately apparent. Based on my experience reading echocardiograms, I can see that the heart walls or heart muscles (myocardium) are not contracting as vigorously as they should.

For patients with a 5% EF range, any physical movement is extremely strenuous, and they can go into cardiac arrest at any moment, which is why they are usually on cardiac telemetry in a hospital setting. Most likely, a patient with 5% EF range would be awaiting a heart transplant, unless there is a medical condition preventing them from being eligible.

Once a patient falls into the heart failure range, they will be lethargic and have severe limits on activities. Other clinical manifestations of heart failure can include peripheral edema (i.e. swelling in the feet, legs, ankles, or stomach), pulmonary edema, and shortness of breath. In many cases, this can lead to depression.

In evaluating the frequency of heart failure in the U.S, statistics from the U.S. Centers for Disease Control (CDC) find that approximately 5.7 million adults are afflicted with this condition. Additionally, care for congestive heart failure costs an estimated $30.7B per year. Furthermore, the mortality rates of patients suffering from heart failure indicate its clinical severity, with 1 in 5 patients with this condition dying within a year of receiving the diagnosis.

A patient experiencing severe heart failure has limited treatment options, which are expensive, complicated, and have major lifestyle implications.

These limited options include:

Consequently, physicians need more effective weapons for treating heart failure in order to improve patients lives and reduce healthcare-related costs. CHF patients have disproportionate hospital readmission rates when compared to other major diseases.

Enter in the growing field of cardiac stem cell treatments, which introduce fundamentally new treatment options for heart failure patients. In cardiac stem cell treatments, stem cells are taken from a patients bone marrow or fat tissue in a sterile surgical procedure and injected via a catheter-wire into infarcted or poorly contracting muscular segments of the hearts main pumping chamber, the left ventricle (LV).

Over the course of a few months, the stem cells impact myocardial cells and begin to improve the contractility of the affected segments, most likely through paracrine signaling mechanisms and impacting the local microenvironment. This can bring a patients EF to low-normal or even normal levels. As a result, a patient can live a more normal life and return to many activities.

A very early clinical trial aimed at evaluating the potential and effectiveness of cardiac stem cell therapy in humans was conducted in 2006 utilizing a commercial product, VesCellTM. The parameters and results of this trial were documented in the American Heart Associations Circulation, Abstract 3682: Treatment of Patients with Severe Angina Pectoris Using Intracoronarily Injected Autologous Blood-Borne Angiogenic Cell Precursors.The subjects of this trial received an intracoronary injection of VesCellTM, an Autologous Angiogenic Cell Precursor (ACP)-based product.

The authors drew their conclusion regarding this study. VesCell therapy for chronic stable angina seems to be safe and improves anginal symptoms at 3 and 6 months. Larger studies are being initiated to evaluate the benefit of VesCell for the treatment of this and additional severe heart diseases. (Source: Tresukosol et al. Abstract 3682: Treatment of Patients with Severe Angina Pectoris Using Intracoronarily Injected Autologous Blood-Borne Angiogenic Cell Precursors. Circulation. October 31, 2006. Vol. 114, Issue Suppl 18. Link: http://circ.ahajournals.org/content/114/Suppl_18/II_786.4 )

Another early cardiac stem cell clinical trial was performed in 2009 by a Cedars-Sinai team based on technologies and discoveries made by Eduardo Marban, MD, PhD, and led by Raj Makkar, MD. In this study, they explored the safety of harvesting, expanding, and administering a patients cardiac stem cells to repair heart tissue injured by myocardial infarction.

Recently, the American College of Cardiology (ACC) also announced results of a ground-breaking clinical study to evaluate the efficacy and effectiveness of cardiac stem cell treatment for heart failure patients. As stated by Timothy Henry, M.D., Director of Cardiology at Cedars-Sinai Heart Institute and one of the studys lead authors, This is the largest double-blind, placebo-controlled stem cell trial for treatment of heart failure to be presentedBased on these positive results, we are encouraged that this is an attractive potential therapy for patients with class III and class IV heart failure.

Additionally, Dr. Charles Goldthwaite, Jr, published a whitepaper titled, Mending a Broken Heart: Stem Cells and Cardiac Repair, in which he draws the conclusion, Given the worldwide prevalence of cardiac dysfunction and the limited availability of tissue for cardiac transplantation, stem cells could ultimately fulfill a large-scale unmet clinical need and improve the quality of life for millions of people with CVD. However, the use of these cells in this setting is currently in its infancymuch remains to be learned about the mechanisms by which stem cells repair and regenerate myocardium, the optimal cell types, and modes of their delivery, and the safety issues that will accompany their use.

Clearly, there is a trend toward acceptance of cardiac stem cell therapies as an emerging treatment option. Several world-renowned institutes are now conducting clinical studies involving cardiac stem cell treatment, as well as applying for intellectual property protection (patents) pertaining to the techniques required in administrating the therapies.

The key questions at this point in time appear to be:

An important whitepaper pertaining to cardiac stem cells is Ischemic Cardiomyopathy Patients Treated with Autologous Angiogenic and Cardio-Regenerative Progenitor Cells, written by Dr. Athina Kyritsis, et al. In it, the physicians describe their objective as investigating the feasibility, safety, and clinical outcome of patients with Ischemic Cardiomyopathy treated with Autologous Angiogenic and Cardio-Regenerative Progenitor cells (ACPs).

The researchers state: In numerous human trials there is evidence of improvement in the ejection fractions of Cardiomyopathy patients treated with ACPs. Animal experiments not only show improvement in cardiac function, but also engraftment and differentiation of ACPs into cardiomyocytes, as well as neo-vascularization in infarcted myocardium. In our clinical experience, the process has shown to be safe as well as effective.

The authors also found that patients treated with this approach gained increases in cardiac ejection fraction from their starting measurements, with improvements in their cardiac ejection fraction of 21 points (75% increase) at rest and 28.5 points (80% increase) at stress. As a result of these finding, the authors conclude, ACPs can improve the ejection fraction in patients with severely reduced cardiac function with benefits sustained to six months.

In the practice of medicine, the focus should be on delivering excellent care to patients. If there are cardiac stem cell treatments available, then regulatory obstacles should be removed when sufficient clinical trial evidence has been provided to indicate safety and efficacy.

Cardiologist Zannos Grekos, MD, a pioneer in cardiac stem cell therapy since 2006, points to the vastly untapped promise of related therapies, commenting Those of us that have been involved with cardiac stem cell treatment for the last 10-plus years can see the incredible potential this approach has.

As of 2017, the U.S. healthcare system is under enormous pressure to deliver affordable healthcareto a growing population of patients, especially those who are fully or partially covered under Medicare or Medicaid (many have secondary coverage). Although we are in the infancy of its development, cardiac stem cell treatments represent a potentially powerful treatment alternative to patients with heart failure symptoms.

To learn more, view the resources below.

1) Regenocyte http://www.regenocyte.com

2) Cleveland Clinic Stem Cell Therapy for Heart Disease my.clevelandclinic.org/health/articles/stem-cell-therapy-heart-disease

3) Harvard Stem Cell Institute (HSCI) hsci.harvard.edu/heart-disease-0

4) Cedars Sinai Cardiac Stem Cell Treatment http://www.cedars-sinai.edu/Patients/Programs-and-Services/Heart-Institute/Clinical-Trials/Cardiac-Stem-Cell-Research.aspx

5) Johns Hopkins Medicine Cardiac Stem Cell Treatments http://www.hopkinsmedicine.org/stem_cell_research/cell_therapy/a_new_path_for_cardiac_stem_cells.html

What do you think about heart failure signs and cardiac stem cell therapies? Share your thoughts in the comments section below.

Up Next:European Society of Cardiology (ESC) Congress Presentation Reveals Results From Pre-Clinical Study Using CardioCells Stem Cells for Acute Myocardial Infarction

Guest Post: This is a guest article by Clifford M. Thornton, a Certified Cardiovascular Technologist, experienced Echocardiographer Technician, and journalist in the cardiac and medical device fields. His articles have been published in Inventors Digest, Global Innovation Magazine, and Modern Health Talk. He is enthusiastic about progress with cardiac stem cell therapies and their role in heart failure treatment.He can be reached byphone at 267-524-7144 or by email at[emailprotected].

Editors Note This post was originally published on March 14, 2017, and has been updated for quality and relevancy.

Heart Failure Signs | Cardiac Stem Cell Therapies for Heart Failure Treatment

Excerpt from:
Heart Failure Signs | Cardiac Stem Cell Therapies: Heart …

Recommendation and review posted by Bethany Smith

AveXis Research & Development

The U.S. Food and Drug Administration (FDA) has granted AVXS-101 Orphan Drug Designation for the treatment of all types of SMA and Breakthrough Therapy Designation, as well as Fast Track Designation, for the treatment of SMA Type 1.

The European Medicines Agency (EMA) also granted AveXis access into its PRIority Medicines (PRIME) program for AVXS-101 for the treatment of SMA Type 1.

The open-label, single-arm, single-dose, multi-center trial known as STR1VE is designed to evaluate the efficacy and safety of a one-time IV infusion of AVXS-101 in patients with SMA Type 1. The co-primary efficacy outcome measures of the trial include the achievement of independent sitting for at least 30 seconds at 18 months of age; and, event-free survival at 14 months of age. Co-secondary outcome measures include the ability to thrive, and the ability to remain independent of ventilatory support at 18 months of age.

The open-label, dose-comparison, multi-center Phase 1 trial known as STRONG is designed to evaluate the safety, optimal dosing, and proof of concept for efficacy of AVXS-101 in two distinct age groups of patients with SMA Type 2, utilizing a one-time IT route of administration. The primary outcome measure for patients less than 24 months of age at the time of dosing is the achievement of the ability to stand without support for at least three seconds. The primary outcome measure for patients between 24 months and 60 months of age at the time of dosing is the achievement of change in Hammersmith Functional Motor Scale Expanded from baseline. The secondary outcome measure for both age groups is the proportion of patients that achieve the ability to walk without assistance, defined as taking at least five steps independently while displaying coordination and balance. Developmental abilities, including motor function, will also be evaluated as exploratory objectives.

Learn more about clinical trials

We have exclusive worldwide license agreements to develop and commercialize gene therapy using the AAV9 vector to treat two rare neurological monogenic disorders: Rett syndrome (RTT) and a genetic form of amyotrophic lateral sclerosis (ALS) caused by mutations in the superoxide dismutase 1 (SOD1) gene.

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AveXis Research & Development

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Stem Cells Used in Anti-Aging Skin Care Radiant RG-Cell

Stem cells are biological cells that are able to stay dormant until triggered to reproduce into new tissue. Found in human embryos and in adult tissue, they can form into any cell type, and help repair organs and skin in the case of injury or other cause of damage.

So is it any surprise that their potential is also being trumpeted in the world of skin care? Cosmetic science has often taken inspiration from hard-core medical breakthroughs, and stem cells appear to possess the ideal skill set to throw the switch on a veritable fountain of youth.

While skin stem cells have found use in treating diseases, stem cells technology in skin care products have been largely based on hype rather than science, but in some cases like RG-CELL, it truly works magic.

The concept of topically applying stem cells, through cream, serum, mask, or facial procedure, with a promise to replenish dying cells and regenerate dying tissues has shown no real scientific evidence that it works.

If youre unfamiliar with the practice, you may question the validity of using live stem cells in anti-aging products when its already an enormous and time consuming challenge to use them in actual organ regenerating procedures.

Firstly, stem cells are highly unstable. They have little to no shelf life. Secondly, they will not enter the deep layers of the skin without an effective skin delivery system. And thirdly, stem cells need specific nutrition via a blood supply in the tissue to survive and function if they were layered onto intact skin the stem cells would just die.

It should be made abundantly clear that, no stem cell skin care products contain actual stem cells. Stem cell based products contain growth factors, along with enzymes and other nutrients, which help the cells grow. Other products dont contain any stem cell-related material at all.

[frame src=https://rg-cell.com/wp-content/uploads/2013/05/stem-cell-skin-care.jpg width=250 height=188 alt=Stem Cell Skin Care align=right]There are 2 ways in which stem cell technology is being used. Firstly, companies are creating products with specialized peptides and enzymes or plant growth factors which, when applied topically on the surface, help protect the human skin from damage and deterioration. Products claiming to contain plant stem cells dont contain human cytokines (or cell messengers), and in fact are really just ground up plant bits. In short, plant stem cell technology cannot effectively impact human stem cells. It can be useful as excellent antioxidants, but marketing has made the benefits bigger than reality.

Secondly, and bearing more scientific evidence, is an alternative application of skin care anti-aging products. These products utilize human stem cell technology, and your skin is the most active participant, NOT plant or apple stem cells. Using ingredients that promote the repair and rejuvenation of your skin by stimulating the activity of your own stem cells in the skin has proven to be safer, more ethical and far more scientifically proven than applying stem cells in a jar. This technology implies a superior product designed specifically to regenerate and rejuvenate your own skin cells.

These products contain epidermal growth factors (EGF) obtained by genetic engineering technology (microbial recombinant) totally identical to natural EGF, known as a BEAUTY FACTOR, boosts and regulates stem cell proliferation. When applied to the skin, stimulate collagen production, improve elasticity, firm sagging skin, improve tone and so much more.

[frame src=https://rg-cell.com/wp-content/uploads/2012/11/nano-encapsulation.jpg width=250 height=190 alt=Skin Delivery System align=right]EGF is a large molecule so it cannot penetrate the skin. In fact, it is too big to fit in between the spaces in cells of our skin. There is also speculation around the length of time, that it can remain stable in a formulation. Clinical studies and research are practically non-existent. Therefore, buyer beware: If you opt for using a product that contains EGF consider whether or not the mechanism of action employed to deliver the ingredient to the dermal layers, will actually work.

Only special technology, can deliver EGF into the skin deeper layers. One of the biggest advances is the use of a patented nano-particulate lipid bi-layer delivery system that allows the products to be delivered deep into the skin where the stem cells live.

RG-Cell uses a unique patented nano-encapsulation technology as its delivery system. This improves the permeation and penetration efficiency of the active ingredients. Owing to this fact, RG-CELL can make valid claims about the efficiency in it is delivery of EGF where it is needed the most. This technology also stabilizes the EGF thereby prolonging its shelf life in the actual product.

Thus we can see that there are already many choices in skin care products with specialized peptides and enzymes or EGFs which, when applied topically stimulate the skins own stem cells. But, only one uses the most advanced technology to deliver nutrients into the skin. Expect many more good choices to be developed in the years to come!

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Stem Cells Used in Anti-Aging Skin Care Radiant RG-Cell

Recommendation and review posted by Bethany Smith

CRISPR – Simple English Wikipedia, the free encyclopedia

CRISPR is a term used in microbiology. It stands for Clustered Regularly-Interspaced Short Palindromic Repeats. These are a natural segment of the genetic code found in prokaryotes: most bacteria and archaea have it.[1]

CRISPR has a lot of short repeated sequences. These sequences are part of an adaptive immune system for prokaryotes. It allows them to remember and counter other organisms that prey on them, such as bacteriophages.

They have the potential to modify the genes of almost any organism. They are part of a tool that allows precisely targeted cutting and insertion of genes in genetic modification (GM). Work is under way to find how they can be used to attack virus diseases in humans.[2]

Each repetition is followed by short segments of “spacer DNA” from previous exposures to a bacterial virus or plasmid.[2] CRISPR spacers recognize and cut up the foreign genetic elements in a manner like RNA interference in eukaryotic organisms.

In effect, the spacers are fragments of DNA from viruses that have previously tried to attack the cell line. The foreign source of the spacers was a sign to researchers that the CRISPR/cas system could have a role in adaptive immunity in bacteria.[3]

The actual cutting is done by a nuclease called Cas9. Cas9 has two active cutting sites, one for each strand of the DNA’s double helix. Cas9 does this by unwinding foreign DNA and checking whether it is complementary to the 20 basepair spacer region of the guide RNA (the spacer region RNA). If it is, the foreign DNA gets chopped up.

The technology has been used to switch off genes in human cell lines and cells, to study Candida albicans, to modify yeasts used to make biofuel and to genetically modify crop strains.[4]

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CRISPR – Simple English Wikipedia, the free encyclopedia

Recommendation and review posted by Bethany Smith

CRISPR NIH Director’s Blog

Posted on September 11th, 2018 by Dr. Francis Collins

Caption: A CRISPR/cas9 gene editing-based treatment restored production of dystrophin proteins (green) in the diaphragm muscles of dogs with Duchenne muscular dystrophy.Credit: UT Southwestern

CRISPR and other gene editing tools hold great promise for curing a wide range of devastating conditions caused by misspellings in DNA. Among the many looking to gene editing with hope are kids with Duchenne muscular dystrophy (DMD), an uncommon and tragically fatal genetic disease in which their musclesincluding skeletal muscles, the heart, and the main muscle used for breathinggradually become too weak to function. Such hopes were recently buoyed by a new study that showed infusion of the CRISPR/Cas9 gene editing system could halt disease progression in a dog model of DMD.

As seen in the micrographs above, NIH-funded researchers were able to use the CRISPR/Cas9 editing system to restore production of a critical protein, called dystrophin, by up to 92 percent in the muscle tissue of affected dogs. While more study is needed before clinical trials could begin in humans, this is very exciting news, especially when one considers that boosting dystrophin levels by as little as 15 percent may be enough to provide significant benefit for kids with DMD.

Posted In: News

Tags: animal models, beagles, Cavalier King Charles Spaniel, CRISPR, CRISPR/Cas9, diaphragm muscle, DMD, dogs, Duchenne muscular dystrophy, dystrophin, gene editing, genetic diseases, heart, muscle, muscular dystrophy, rare diseases, Somatic Cell Genome Editing

Posted on October 10th, 2017 by Dr. Francis Collins

About a month ago, I had the pleasure of welcoming the Juip (pronounced Yipe) family from Michigan to NIH. Although youd never guess it from this photo, two of the Juips five children9-year-old Claire and 11-year-old Jake (both to my left)have a rare genetic disease called Friedreichs ataxia (FA). This inherited condition causes progressive damage to their nervous systems and their hearts. No treatment currently exists for kids like Claire and Jake, yet this remarkable family has turned this serious health challenge into an opportunity to raise awareness about the need for biomedical research.

One thing that helps keep the Juips optimistic is the therapeutic potential of CRISPR/Cas9, an innovative gene editing systemthat may someday make it possible to correct the genetic mutations responsible for FA and many other conditions. So, Im sure the Juips were among those encouraged by the recent news that NIH-funded researchers have developed a highly versatile approach to CRISPR/Cas9-based therapies. Instead of relying on viruses to carry the gene-editing system into cells, the new approach uses tiny particles of gold as the delivery system!

Posted In: Health, Science, technology, Uncategorized

Tags: CRISPR, CRISPR-Gold, CRISPR/Cas9, DMD, Duchenne muscular dystrophy, dystrophin, FA, Friedreichs ataxia, gene editing, Juip, rare diseases, stem cells

Posted on July 18th, 2017 by Dr. Francis Collins

Credit: Seth Shipman, Harvard Medical School, Boston

Theres a reason why our cells store all of their genetic information as DNA. This remarkable molecule is unsurpassed for storing lots of data in an exceedingly small space. In fact, some have speculated that, if encoded in DNA, all of the data ever generated by humans could fit in a room about the size of a two-car garage and, if that room happens to be climate controlled, the data would remain intact for hundreds of thousands of years! [1]

Scientists have already explored whether synthetic DNA molecules on a chip might prove useful for archiving vast amounts of digital information. Now, an NIH-funded team of researchers is taking DNAs information storage capabilities in another intriguing direction. Theyve devised their own code to record information not on a DNA chip, but in the DNA of living cells. Already, the team has used bacterial cells to store the data needed to outline the shape of a human hand, as well the data necessary to reproduce five frames from a famous vintage film of a horse galloping (see above).

But the researchers ultimate goal isnt to make drawings or movies. They envision one day using DNA as a type of molecular recorder that will continuously monitor events taking place within a cell, providing potentially unprecedented looks at how cells function in both health and disease.

Posted In: Health, Science, Video

Tags: biosensor, biotechnology, Cas1, Cas2, CRISPR, CRISPR-Cas, DNA, DNA movie, DNA storage, E. coli, film, gene editing, genomics, Human and Animal Locomotion, imaging, information storage, molecular recorder, movie, spacers

Posted on May 4th, 2017 by Dr. Francis Collins

Jesse Dixon

As a kid, Jesse Dixon often listened to his parents at the dinner table discussing how to run experiments and their own research laboratories. His father Jack is an internationally renowned biochemist and the former vice president and chief scientific officer of the Howard Hughes Medical Institute. His mother Claudia Kent Dixon, now retired, did groundbreaking work in the study of lipid molecules that serve as the building blocks of cell membranes.

So, when Jesse Dixon set out to pursue a career, he followed in his parents footsteps and chose science. But Dixon, a researcher at the Salk Institute, La Jolla, CA, has charted a different research path by studying genomics, with a focus on understanding chromosomal structure. Dixon has now received a 2016 NIH Directors Early Independence Award to study the three-dimensional organization of the genome, and how changes in its structure might contribute to diseases such as cancer or even to physical differences among people.

Posted In: Health, Science

Tags: 2016 NIH Directors Early Independence Award, 3D genome structure, chromatin, chromatin structure, CRISPR, CRISPR/Cas9, DNA, DNA packaging, ENCODE, Encyclopedia of DNA Elements, enhancer, gene editing, genome, genomics, histones, TAD, topologically associated domains

Posted on January 24th, 2017 by Dr. Francis Collins

Caption: This image represents an infection-fighting cell called a neutrophil. In this artists rendering, the cells DNA is being edited to help restore its ability to fight bacterial invaders.Credit: NIAID, NIH

For gene therapy research, the perennial challenge has been devising a reliable way to insert safely a working copy of a gene into relevant cells that can take over for a faulty one. But with the recent discovery of powerful gene editing tools, the landscape of opportunity is starting to change. Instead of threading the needle through the cell membrane with a bulky gene, researchers are starting to design ways to apply these tools in the nucleusto edit out the disease-causing error in a gene and allow it to work correctly.

While the research is just getting under way, progress is already being made for a rare inherited immunodeficiency called chronic granulomatous disease (CGD). As published recently in Science Translational Medicine, a team of NIH researchers has shown with the help of the latest CRISPR/Cas9 gene-editing tools, they can correct a mutation in human blood-forming adult stem cells that triggers a common form of CGD. Whats more, they can do it without introducing any new and potentially disease-causing errors to the surrounding DNA sequence [1].

When those edited human cells were transplanted into mice, the cells correctly took up residence in the bone marrow and began producing fully functional white blood cells. The corrected cells persisted in the animals bone marrow and bloodstream for up to five months, providing proof of principle that this lifelong genetic condition and others like it could one day be cured without the risks and limitations of our current treatments.

Posted In: Health, Science

Tags: adult stem cells, bacteria, CGD, chronic granulomatous disease, clinical trials, CRISPR, CRISPR-Cas, CRISPR/Cas9, DNA editing, fungi, gene therapy, genetics, hematopoietic stem cells, immunodeficiency, immunology, infectious disease, inherited immuodeficiency, neutrophil, rare disease, translational medicine, X chromosome, X-linked chronic granulomatous disease

Originally posted here:
CRISPR NIH Director’s Blog

Recommendation and review posted by Bethany Smith


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