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How Does Crispr Gene Editing Work? | WIRED

In the last five years, biology has undergone a seismic shift as researchers around the globe have embraced a revolutionary technology called gene editing. It involves the precise cutting and pasting of DNA by specialized proteinsinspired by nature, engineered by researchers. These proteins come in three varieties, all known by their somewhat clumsy acronyms: ZFNs, TALENs, and CRISPRs. But its Crispr, with its elegant design and simple cell delivery, thats most captured the imagination of scientists. Theyre now using it to treat genetic diseases, grow climate-resilient crops, and develop designer materials, foods, and drugs.

So how does it work?

When people refer to Crispr, they're probably talking about Crispr-Cas9, a complex of enzymes and genetic guides that together finds and edits DNA. But Crispr on its own just stands for Clustered Regularly Interspaced Palindromic Repeatschunks of regularly recurring bits of DNA that arose as an ancient bacterial defense system against viral invasions.

Viruses work by taking over a cell, using its machinery to replicate until it bursts. So certain bacteria evolved a way to fight back. They deployed waves of DNA-cutting proteins to chop up any viral genes floating around. If the bacteria survived the attacks, they'd incorporate tiny snippets of virus DNA into their own genomeslike a mug shot of every foe theyd ever come across, so they could spot each one quicker in the future. To keep their genetic memory palace in order, they spaced out each bit of viral code (so-called guide RNAs) with those repetitive, palindromic sequences in between. It doesn't really matter that they read the same forward and backward; the important thing is that they helped file away genetic code from viral invaders past, far away from more essential genes.

And having them on file meant that the next time a virus returned, the bacteria could send out a more powerful weapon. They could equip Cas9a lumpy, clam-shaped DNA-cutting proteinwith a copy of that guide RNA, pulled straight out of storage. Like a molecular assassin, it would go out and snip anything that matched the genetic mug shot.

Thats what happens in the wild. But in the lab, scientists have harnessed this powerful Crispr system to do things other than fight off the flu. The first step is designing a guide RNA that can sniff out a particular block of code in any living cellsay, a genetic defect, or an undesirable plant trait. If that gene consists of a string of the bases A, A, T, G, C, scientists make a complementary strand of RNA: U, U, A, C, G. Then they inject this short sequence of RNA, along with Cas9, into the cell theyre trying to edit. The guide RNA forms a complex with Cas9; one end of the RNA forms a hairpin curve that keeps it stuck in the protein, while the other endthe business enddangles out to interact with any DNA it comes across.

Once in the cell's nucleus, the Crispr-Cas9 complex bumps along the genome, attaching every time it comes across a small sequence called PAM. This protospacer adjacent motif is just a few base pairs, but Cas9 needs it to grab onto the DNA. And by grabbing it, the protein is able to destabilize the adjacent sequence, unzipping just a little bit of the double helix. That allows the guide RNA to slip in and sniff around to see if it's a match. If not, they move on. But if every base pair lines up to the target sequence, the guide RNA triggers Cas9 to produce two pincer-like appendages, which cut the DNA in two.

The process can stop there, and simply take a gene out of commission. Or, scientists can add a bit of replacement DNAto repair a gene instead of knocking it out.

And they don't have to limit themselves to just Cas9. There's a whole bunch of proteins that can use an RNA guide. There's Cas3, which gobbles up DNA Pac-Man style. Scientists are using it to develop targeted antibiotics that can wipe out a strain of C. diff, while leaving your gut microbiome intact. And there's an enzyme called Cas13 that works with a guide that gloms onto RNA, not DNA. Called Sherlock, the system is being used to develop sensitive tests for viral infections. Researchers are working hard to add more implements to the Crispr toolkit, but at least right now, Cas9 is still the most widely used.

Crispr isnt perfect; sometimes the protein veers off course and makes cuts at unintended sites. So scientists are actively working on ways to minimize these off-target effects. And as it gets better, the ethical questions surrounding the technology are going to get a lot thornier. Hello, designer babies?! Figuring out where those lines get drawn is going to take more than science; it will require policymakers and the public coming to the table. Because pretty soon with Crispr, the question wont be can we do it, but should we?

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How Does Crispr Gene Editing Work? | WIRED

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Gene therapy at OHSU Casey Eye Institute | Casey Eye …

Ongoing gene therapy trials open to enrollment

These studies are actively seeking new participants.

The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. This is the first study that aims to treat Achromatopsia disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy.

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The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy.

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The purpose of this study is to learn about a new gene therapy that may help patients with X-Linked Retinoschisis (XLRS).This is the first study that aims to treat XLRS disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the vitreous (a thick, gel-like transparent substance that fills the center of the eye) of one eye. The eye with worse vision will receive the gene therapy.

Contact 503 494-0020 or email the ORDC.

The purpose of this study is to learn about a new gene therapy being studied in patients with Retinitis Pigmentosa (RP) as a result of Usher Syndrome.This is the first study that aims to treat RP due to Usher Syndrome by gene therapy.The study investigators want to find out if UshStat is safe for use in humans.The gene therapy is given by surgical injection underneath the retina of one eye.The eye with worse vision will receive the gene therapy

Contact 503 494-0020 or email the ORDC.

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The purpose of this study is to learn about a new gene therapy that may help patients with Stargardt's Macular Degeneration (SMD). This is the first study that aims to treat Stargardt's disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection underneath the retina of one eye. The eye with worse vision will receive the gene therapy.

Contact 503 494-0020 or email the ORDC.

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Purpose: To evaluate the safety and dosing levels of a gene-based treatment, RetinoStat, for wet AMD. In this study, two helpful genes are delivered directly to the retina, where they "turn on" proteins that block abnormal blood vessel growth in a sustained fashion. Enrollment is completed and study patients are being followed.

Contact: Ann Lundquist, 503 494-6364.

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Gene Therapy Advisory Committee – Health Research Authority

If your application is for ethical approval of a gene therapy clinical trial you must apply to the Gene Therapy Advisory Committee (GTAC).

GTAC is the UK national REC for gene therapy clinical research according to regulation 14(5) of The Medicines for Human Use (Clinical Trials) Regulations 2004.

You may book applications to the following RECs:

Once a booking is accepted, you must electronically submit your application and supporting documentation on the same day. If your application is valid, you will be sent an acknowledgement within five days of receipt and arrangements subsequently made for you to attend the REC meeting.

Historically, GTAC would send applications for external peer review. In future, as with all other RECs, the responsibility for providing peer review will rest with the sponsor.

We will seek to work in partnership with other organisations to determine whether it is possible to develop some agreed standards. More information can be found here.

You are no longer required to seek pre-application regulatory advice from GTAC. The MHRA will continue to provide this service to commercial companies, and will consider requests for advice from academic researchers.

Members of the research community have requested clarity on the type of application that needs to be submitted to GTAC.

Legally, all gene therapy applications must be submitted to a GTAC that is able to transfer to other designated RECs.

To make it easier for researchers and sponsors to identify other studies needing review, other applications that involve cell therapy and/or that are submitted to the MHRA Clinical Trials Expert Advisory Group must also be submitted to GTAC.

All gene therapy and cell therapy applications for Clinical Trials Authorisation will be assessed by the MHRA and, where appropriate will now be submitted to the MHRA Clinical Trials Expert Advisory Group for review. This review will assure the RECs that appropriate scrutiny of the safety of the application has been carried out.

The REC will raise any concerns directly with the MHRA.

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Gene Therapy Advisory Committee - Health Research Authority

Recommendation and review posted by Bethany Smith

CRISPR: can gene-editing help nature cope with climate change?

Recommendation and review posted by sam

Life Extension Reviews – Is it a Scam or Legit?

About Life Extension

Life Extension is a dietary supplements manufacturer that claims to offer the highest quality award-winning, science-based vitamins and supplements. As their name suggests, they and their Life Extension Foundation (more about this in the following section) are focused on anti-aging research and integrative health, and many of their supplements reflect this.

Life Extension is based out of Fort Lauderdale, FL, and claims to have been in business for more than 34 years. During this time, they claim to have reinvested $125 million into helping find cures for age-related diseases. The company is listed with the Better Business Bureau under Life Extension Foundation Buyers Club, Inc., and has an A+ rating, with just one closed complaint over the past three years. Unusually, despite the length of time the company has been in business, we were unable to locate any online customer reviews during our research.

By sourcing only the highest quality raw materials from all over the world, Life Extension claims to manufacture over 350 of the highest quality supplements available on the market, all of which are clinically validated and tested. In addition, the company claims that their supplements are created by scientists who analyze thousands of scientific studies every week, and who are on the forefront of medical research. In fact, the company claims to maintain a Certificate of Analysis on file for each one of their products, which guarantees potency and purity.

When talking about the company, its important to remember that the Life Extension Buyers Club is the consumer-focused portion, while the nonprofit Life Extension Foundation is an organization dedicated to extending human life, controlling aging, and eradicating disease.

At the time of this writing, the most popular Life Extension supplements included:

According to the companys website, all Life Extension products are GMP certified, and include dosages that accurately replicate the most successful results obtained in scientific studies for maximum efficacy.

In addition to products, Life Extension also offers blood testing services, as well as cutting-edge clinical trials that you can apply for, most of which are compensated.


With more than 350 products in their catalog, Life Extension supplements can vary greatly in price. However, based on a moderate sample size, most supplements appear to range between $10 and $82. Keep in mind that the more you buy, the lower per-bottle price youll pay.

During the checkout process, youll be required to become a Life Extension member in order to complete the purchase. As such, youll have six different options:

Whichever option you choose, membership allows you to save 25%-50% when compared to health food store prices. All options other than a monthly membership will also give you access to two free bonuses:

Disease Prevention & Treatment, a 1,400-page book that bridges the gap between cutting-edge science and mainstream medicine.Life Extension Directory, which details all of the companys supplements.

US-based basic shipping costs $5.50, while 2nd Day Air is priced at $12.50 and Overnight at $21.50.

All Life Extension products come with a one-year, 100% satisfaction guarantee. You can also sign up for VIP AutoShip, which allows you to receive your favorite supplements on a recurring basis.

To set yourself up on the AutoShip program or to begin the refund process, youll need to contact customer service at 800-226-2370, or use their online contact form.

With all of this in mind, whats the bottom line: Is Life Extension a scam? While nothing we encountered during our research would lead us to believe this is the case, keep the following in mind:

First, Life Extension is a very big company, and has been in business for more than 34 years, so its products clearly resonate with a large percentage of the population. To drive home this fact, according to this article, as of 2009 it had assets of over $25 million andnetted more than $3 million on revenue of more than $18 million that year.

Regardless of the companys size though, the nutritional supplements industry is rife with unsubstantiated claims. For those with clinical studies that appear to support their claims, many are based on thin science, or on studies not conducted on humans. Were not saying this is the case with Life Extension, but its a rampant problem within the industry. Also, when factoring in the specific makeup of individuals, keep in mind that not all supplements will work for every consumer.

Furthermore, the Life Extension Foundation has a long history of legal woes in its relationship with the FDA, many of which date back more than 25 years. On top of this, the Foundations tax exempt status was revoked in May 2013, although this appears to have more to do with funding than it does with anything related to their products.

Finally, we were unable to locate any legitimate online customer reviews about Life Extension, which is surprising considering the companys age. However, the good news is that you can be a star by writing about your experience with Life Extension. So go ahead and share your experience with the world now!


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Life Extension Reviews - Is it a Scam or Legit?

Recommendation and review posted by sam

What are genome editing and CRISPR-Cas9?

Genome editing (also called gene editing) is a group of technologies that give scientists the ability to change an organism's DNA. These technologies allow genetic material to be added, removed, or altered at particular locations in the genome. Several approaches to genome editing have been developed. A recent one is known as CRISPR-Cas9, which is short for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9. The CRISPR-Cas9 system has generated a lot of excitement in the scientific community because it is faster, cheaper, more accurate, and more efficient than other existing genome editing methods.

CRISPR-Cas9 was adapted from a naturally occurring genome editing system in bacteria. The bacteria capture snippets of DNA from invading viruses and use them to create DNA segments known as CRISPR arrays. The CRISPR arrays allow the bacteria to "remember" the viruses (or closely related ones). If the viruses attack again, the bacteria produce RNA segments from the CRISPR arrays to target the viruses' DNA. The bacteria then use Cas9 or a similar enzyme to cut the DNA apart, which disables the virus.

The CRISPR-Cas9 system works similarly in the lab. Researchers create a small piece of RNA with a short"guide" sequence that attaches (binds) to a specific target sequence of DNA in a genome. The RNA also binds to the Cas9 enzyme. As in bacteria, the modified RNA is used to recognize the DNA sequence, and the Cas9 enzyme cuts the DNA at the targeted location. Although Cas9 is the enzyme that is used most often, other enzymes (for example Cpf1) can also be used. Once the DNA is cut, researchers use the cell's own DNA repair machinery to add or delete pieces of genetic material, or to make changes to the DNA by replacing an existing segment with a customized DNA sequence.

Genome editing is of great interest in the prevention and treatment of human diseases. Currently, most research on genome editing is done to understand diseases using cells and animal models. Scientists are still working to determine whether this approach is safe and effective for use in people. It is being explored in research on a wide variety of diseases, including single-gene disorders such as cystic fibrosis, hemophilia, and sickle cell disease. It also holds promise for the treatment and prevention of more complex diseases, such as cancer, heart disease, mental illness, and human immunodeficiency virus (HIV) infection.

Ethical concerns arise when genome editing, using technologies such as CRISPR-Cas9, is used to alter human genomes. Most of the changes introduced with genome editing are limited to somatic cells, which are cells other than egg and sperm cells. These changes affect only certain tissues and are not passed from one generation to the next. However, changes made to genes in egg or sperm cells (germline cells) or in the genes of an embryo could be passed to future generations. Germline cell and embryo genome editing bring up a number of ethical challenges, including whether it would be permissible to use this technology to enhance normal human traits (such as height or intelligence). Based on concerns about ethics and safety, germline cell and embryo genome editing are currently illegal in many countries.

Gupta RM, Musunuru K. Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9. J Clin Invest. 2014 Oct;124(10):4154-61. doi: 10.1172/JCI72992. Epub 2014 Oct 1. Review. PubMed: 25271723. Free full-text available from PubMed Central: PMC4191047.

Hsu PD, Lander ES, Zhang F. Development and applications of CRISPR-Cas9 for genome engineering. Cell. 2014 Jun 5;157(6):1262-78. doi:10.1016/j.cell.2014.05.010. Review. PubMed: 24906146. Free full-text available from PubMed Central: PMC4343198.

Komor AC, Badran AH, Liu DR. CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes. Cell. 2017 Apr 20;169(3):559. doi:10.1016/j.cell.2017.04.005. PubMed: 28431253.

Lander ES. The Heroes of CRISPR. Cell. 2016 Jan 14;164(1-2):18-28. doi:10.1016/j.cell.2015.12.041. Review. PubMed: 26771483.

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What are genome editing and CRISPR-Cas9?

Recommendation and review posted by Bethany Smith

"Latest Stem Cells News" – news from the world about stem …

To meet the industry needs and to benefit students and research scholars, Nitte University has set up the a centre for stem cell research at K S Hedge Medical Academy (Kshema).

The Nitte University Centre for Stem Cell Research and Regenerative Medicine (NUCSReM), has been established to further advance the understanding of stem cell biology and to facilitate clinical application of stem cells to treat patients with various ailments, says N Vinaya Hegde, chancellor, Nitte University.

Gianvito Martino, the head of the Neurosciences division at the Institute of San Raffaele in Milan in a speech at Multiple Sclerosis Week, which took place from May 23-31, warned against trips of hope to clinics that promise effective treatments using stem cells.

According to Martino, who coordinated a Consensus Conference on last Tuesday in London on the neurodegenerative disease, where the guidelines for pre-clinical studies and clinical treatments with stem cells were defined, hundreds of Italian patients each year go on these trips due to cures that are promised. In the best-case scenario, these patients return in the Read More

Scientists have claimed they would serve the worlds first test tube hamburger this October.

A team, led by Prof Mark Post of Maastricht University in the Netherlands, says it has already grown artificial meat in the laboratory, and now aims to create a hamburger, identical to a real stuff, by generating strips of meat from stem cells.

The finished product is expected to cost nearly 220,000 pounds, The Daily Telegraph reported.

Prof Post said his team has successfully replicated the process with cow cells and calf serum, bringing the first artificial burger a step closer.

In October we are going to provide a Read More

Studies begun by Harvard Stem Cell Institute (HSCI) scientists eight years ago have led to a report published today that may be amount to a major step in developing treatments for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs disease.

The findings by Kevin Eggan, a professor in Harvards Department of Stem Cell and Regenerative Biology (HSCRB), and colleagues also has produced functionally identical results in human motor neurons in a laboratory dish and in a mouse model of the disease, demonstrating that modeling the human disease with customized stem cells in the laboratory could relatively soon eliminate some Read More

Frank LaFerla, left, Mathew Blurton-Jones and colleagues found that neural stem cells could be a potential treatment for advanced Alzheimer's disease

UC Irvine scientists have shown for the first time that neural stem cells can rescue memory in mice with advanced Alzheimers disease, raising hopes of a potential treatment for the leading cause of elderly dementia that afflicts 5.3 million people in the U.S.

Mice genetically engineered to have Alzheimers performed markedly better on memory tests a month after mouse neural stem cells were injected into their brains. The stem cells secreted a protein that created more neural connections, improving Read More

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"Latest Stem Cells News" - news from the world about stem ...

Recommendation and review posted by Bethany Smith

Low Testosterone | Hormone Health Network

What is the role of testosterone in mens health?

Testosterone is the most important sex hormone that men have. It is responsible for the typical male characteristics, such as facial, pubic, and body hair as well as muscle. This hormone also helps maintain sex drive, sperm production, and bone health. The brain and pituitary gland (a small gland at the base of the brain) control the production of testosterone by the testes.

In the short term, low testosterone (also called hypogonadism) can cause:

Over time, low testosterone may cause a man to lose body hair, muscle bulk, and strength and to gain body fat. Chronic (long-term) low testosterone may also cause weak bones (osteoporosis), mood changes, less energy, and smaller testes. Signs and symptoms (what you see and feel) vary from person to person.

Low testosterone can result from:

Low testosterone is common in older men. In many cases, the cause is not known.

During a physical exam, your doctor will examine your body hair, size of your breasts and penis, and the size and consistency of the testes and scrotum. Your doctor may check for loss of side vision, which could indicate a pituitary tumor, a rare cause of low testosterone.

Your doctor will also use blood tests to see if your total testosterone level is low. The normal range is generally 300 to 1,000 ng/dL, but this depends on the lab that conducts the test. To get a diagnosis of low testosterone, you may need more than one early morning (710 AM) blood test and, sometimes, tests of pituitary gland hormones.

If you have symptoms of low testosterone, your doctor may suggest that you talk with an endocrinologist. This expert in hormones can help find the cause. Be open with your doctor about your medical history, all prescription and nonprescription drugs you are now taking, sexual problems, and any major changes in your life.

Testosterone replacement therapy can improve sexual interest, erections, mood and energy, body hair growth, bone density, and muscle mass. There are several ways to replace testosterone:

The best method will depend on your preference and tolerance, and the cost.

There are risks with long-term use of testosterone. The most serious possible risk is prostate cancer. African American men, men over 40 years of age who have close relatives with prostate cancer, and all men over 50 years of age need monitoring for prostate cancer during testosterone treatment. Men with known or suspected prostate cancer, or with breast cancer, should not receive testosterone treatment.

Other possible risks of testosterone treatment include:

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Low Testosterone | Hormone Health Network

Recommendation and review posted by simmons

Budgie Parakeet Colors, Varieties, Mutations, Genetics

Budgie parakeets come in so many colors and mutations they remind me of jellybeans! These birds are part of our family flock.

Original Australian wild type green budgerigar parakeet

In the wild, Budgie Parakeets are green with yellow, with black stripes and markings, and dark blue-green-black flight and tail feathers. Captive breeding programs, however, have produced Budgies in almost every color of the rainbow, except red and pink. They are so colorful, they remind me of jellybeans!

All captive budgerigars are divided into two basic series of colors: white-based (includes skyblue, cobalt, mauve, gray, violet, and white) and yellow-based (includes light-green, dark-green, gray-green, olive, and yellow). Green (yellow base) is dominant and blue (white base) is recessive.There are at least 32 primary mutations in the budgerigar, enabling hundreds of possible secondary mutations and color varieties!

One of my all time personal favorite mutation combinations is pictured below I call it a Rainbow Spangle. Toto, a budgie raised by us, is a yellow-face type 2 sky-blue opaline spangle.

A combination of several mutations, I call this a Rainbow Spangle.

Green (yellow base) is dominant and blue (white base) is recessive.

There are 3 color variations for both the white base colorand the yellow base color. In the yellow base color, the dark factor genes make these color variations:

Yellow Base Color:0 dark factors = light green1 dark factors = dark green2 dark factors = olive

Mutations like Lutinos and Double-Factor Spangles still have dark factors but they are not seen visually.


Light-Green (additional mutations present: Opaline, Spangle)


Dark Factor budgie parakeet breeding punnett square

Blue (white base) is recessive to green (yellow base).

There are 3 color variations for both the white (blue) series and the yellow (green) series birds. In the white series, the dark factor genes make these color variations:

White (blue) series:0 dark factors = skyblue1 dark factors = cobalt2 dark factors = mauve

Albinos and Double-Factor Spangles still have dark factors but they are not seen visually.


Skyblue (other mutation present: Cinnamon-Wing)

Cobalt(other mutation present:Yellowface type 1)

The violet factor affects both white-based (blue) and yellow-based (green) colors.

Violet (other mutation present: Sky-blue, Greywing)

Violet (other mutations present: Sky-blue, Opaline, Spangle)

Violet (other mutations present: Cobalt)

Violet Factor budgie parakeet breeding punnett square

The gray factor affects both white-based (blue) and yellow-based (green) colors.

Gray normal English x American budgie

Gray yellowface spangle budgie parakeet

Gray-green opaline baby English Budgie

Gray factor budgie parakeet breeding punnett square

In addition to a dark factor, budgies may also have a degree of dilution. There are four types of dilution: Greywing, Full-Body-Color Greywing, Clearwing, and Dilute.

Dilute blue opaline American parakeet

When a budgie has two of the recessive Dilute genes, its markings and color are about 70% washed out when compared to a normal.

Greywing blue American Parakeet

Greywing light-green American parakeet

A homozygous Greywing (or a Greywing budgie with the recessive Dilute gene) has gray wing markings and a 50% diluted body color.

Full-Body-Color Greywing light green American parakeet

When a budgie has both the Greywing and Clearwing gene, it is a Full-Body-Color Greywing with grey wing markings and bright body color.

Clearwing dark green American parakeet

A homozygous Clearwing (or a Clearwing budgie with the recessive Dilute gene) has less pigment in the wings, causing very light markings, and more pigment in the body feathers, causing a bright body color.

Normal = dominantGreywing = recessive, co-dominant with clearwingClearwing = recessive, co-dominant with greywingDilute= recessive

normal + normal = normalnormal + greywing = normal split for greywingnormal + clearwing = normal split for clearwingnormal + dilute = normal split for dilutegreywing + greywing = greywinggreywing + clearwing = full body color greywinggreywing + dilute = greywing split for diluteclearwing + clearwing = clearwingclearwing + dilute = clearwing split for dilutedilute + dilute = dilute

Two full body color greywings =50% full body color greywing25% greywing25% clearwing

Dilute budgie parakeet breeding punnet square

Lutino American parakeet (solid yellow with red/pink eyes)

Albino American parakeet (solid white with red/pink eyes)

The ino gene removes all the melanin (the substance that creates all the dark colors) removed, so a blue series budgie becomes white (Albino) and a green series one become yellow (Lutino). The gene also removes the dark shade from the skin and beak leaving them with pink legs and an orange beak. The dark color of the eye is also gone leaving a red eye with a white iris ring, and the cheek patches are silvery white. It removes the blue shade from the cocks cere too so hell have a pink/purple colored cere; the hens cere is the usual white to brown shade. Because usually only the white and yellow colors are left, an ino can hide the fact that it also has other varieties present genetically. The only varieties that show are the yellow faces or golden faces and they are only obvious on an albino budgie.

The ino gene is sex-linked and recesssive:

ino x ino =100% ino

ino cock x normal hen =50% normal split for ino cocks50% ino hens

normal cock x ino hen =50% normal split for ino cocks50% normal hens

normal split for ino cock x normal hen =25% normal cocks25% normal split for ino cocks25% ino hens25% normal hens

Albino / Lutino / Ino budgie parakeet breeding punnett square

Yellowface type 1 blue English budgie

Yellow face gray dominant pied English budgie

Yellowface budgies are in between yellow-based budgies and white-based budgies and the genetics are complicated. There are different degrees of the level of yellow pigment but it is less than the yellow-based variety. The double factor birds contain less yellow than single factor birds. The Yellowface mutation is possible in all of the blue series birds, including Albinos, Dark-Eyed Clears, Grays, Violets and in all their three depths of shade (ie. Skyblue, Cobalt, Mauve). Green series birds can mask a Yellowface character, and they can carry both Yellowface and Blue splits at the same time. Visually, there are two types of Yellowface: Type 1 and Type 2:

Yellowface type 1 skyblue single-factor violet clearflight pied opaline American parakeet

In Type 1, the yellow is confined to the mask feathers, plus maybe the peripheral tail feathers, only. The body feathers are normally colored.

Yellowface type 2 skyblue Greywing American Parakeet. The Yellowface type 2 mutation bleeds down into the blue body color, creating a seafoam-green effect.

Yellow face type 2 American parakeet. With the YF 2 mutation, the yellow spreads into the blue body color to create turquoise.

Type 2 Yellowface budgies have yellow in the mask feathers and tail, just like the Type 1. However, after the first molt at around 3 months of age, the yellow diffuses into the body color and creates a new color, depending on the original color. The single factor (SF) Yellowface 2 Skyblue variety is like a normal Light Green but has a very bright body color midway between blue and green a shade often called sea-green or turquoise. The body feathers of the SF Yellowface 2 Cobalt are bottle-green and in the SF Yellowface 2 Mauve they are a mixture of mauve and olive. The double factor (DF) Yellowface 2 Skyblue variety is very similar to the Yellowface 1 Skyblue, but the yellow pigmentation is brighter, and tends to leak into the body feathers to a greater extent.

In combination with the Blue, Opaline and Clearwing mutations, the single factor (SF) Yellowface 2 mutation produces the variety called Rainbow.

The yellowface type 2 gene is dominant to the yellowface type 1, meaning that it is visually expressed and the type 1 is masked in a genotypically type 1 x type 2 bird. When two yellowface type 1 skyblues are paired together, half the chicks will be yellowface type 1 skyblues and half will be normal skyblues in appearance. But half of these apparent skyblues will be double factor (DF) yellowface 1s. Here are the breeding expectations using punnett squares:

Yellowface budgie parakeet breeding punnett square

Cinnamon-Wing gray-green English Budgie baby

Cinnamon-wing sky-blue English budgie hen

All the markings which appear black or dark gray in the Normal appear brown in the Cinnamon. The Cinnamon markings on cocks tend to be darker than on hens. The long tail feathers are lighter than Normals. The body color and cheek patches are much paler, being about half the depth of color of the Normal. The feathers of Cinnamons appear tighter than Normals, giving a silky appearance. The eyes of the newly-hatched Cinnamon are not black like the eyes of Normals, but deep plum-colored. This color can be seen through the skin before the eyes open. A few days after the eyes open, the eye darkens and is then barely distinguishable from the that of a Normal chick, but by this time the difference in down color is visible: Normal chicks have gray down, but Cinnamon (and Opaline and Ino) chicks have white. The skin of Cinnamon chicks is also redder than Normals, and this persists into adulthood: the feet of Cinnamons are always pink rather than bluey-gray. The beak tends to be more orange in color.

In birds, the cock has two X chromosomes and the hen has one X and one Y chromosome. So in hens whichever allele is present on the single X chromosome is fully expressed in the phenotype. Hens cannot be split for Cinnamon (or any other sex-linked mutation). In cocks, because Cinnamon is recessive, the Cinnamon allele must be present on both X chromosomes (homozygous) to be expressed in the phenotype. Cocks which are heterozygous for Cinnamon are identical to the corresponding Normal. Such birds are said to be split for Cinnamon. The Cinnamon with Ino can create the Lacewing variety.

Cinnamon is a sex-linked recessive gene:

cinnamon x cinnamon =100% cinnamon

cinnamon cock x normal hen =50% normal split for cinnamon cocks50% cinnamon hens

normal cock x cinnamon hen =50% normal split for cinnamon cocks50% normal hens

normal split for cinnamon cock x normal hen =25% normal cocks25% normal split for cinnamon cocks25% cinnamon hens25% normal hens

normal split for cinnamon cock x cinnamon hen =25% normal cocks25% normal split for cinnamon cocks25% cinnamon hens25% normal hens

Cinnamon-wing budgie parakeet breeding punnett square

Opaline parakeet on the right, normal on the left.

The striping pattern on the head feathers is reversed so that there are thicker white areas and thinner black stripes. Another feature of this mutation is that the body feather color runs through the stripes on the back of the neck and down through the wing feathers. Opaline budgies tails are characteristically patterned with light and colored areas running down the tail feather. Most Opalines show a brighter body color than the corresponding non-Opaline, particularly in nest feather and in the rump area. The Opaline (and the Cinnamon) can be identified at a very early age because the color of the down feathers of the young nestling are white instead of the usual gray.

Opaline is a sex-linked recessive gene:

opaline x opaline =100% opaline

opaline cock x normal hen =50% normal split for opaline cocks50% opaline hens

normal cock x opaline hen =50% normal split for opaline cocks50% normal hens

normal split for opaline cock x normal hen =25% normal cocks25% normal split for opaline cocks25% opaline hens25% normal hens

normal split for opaline cock x opaline hen =25% normal cocks25% normal split for opaline cocks25% opaline hens25% normal hens

Single Factor Spangle violet opaline American parakeet x English budgie cross

Double Factor Spangle English budgie

SINGLE Factor Spangle: The markings on the wings, the throat spots and the tail feathers are altered on the single factor Spangle. The feathers have a white or yellow edge, then a thin black pencil line, then the center of the feather is yellow or white. The throat spots are often all or partly missing but if present look like targets, with a yellow or white center. The long tail feathers can be like the wing feathers with a thin line near the edge, or they may be plain white, yellow or solid dark blue as in a normal.

DOUBLE Factor Spangle: Pure white or yellow bird, though sometimes with a slight suffusion of body color.

Both types of Spangle have normal dark eyes with a white iris ring and normal ceres. Their feet and legs can be gray or fleshy pink. They can have either violet or silvery white cheek patches (or a mixture of both).

Spangle Breeding Outcomes:

Spangle is an incomplete dominant gene. This means it has three forms: the non-spangle, the single factor spangle and the double factor spangle. Spangle genetics sometimes do not act as expected.

normal x single factor spangle =50% normal50% single factor spangle

normal x double factor spangle =100% single factor spangle

single factor spangle x single factor spangle =25% normal50% single factor spangle25% double factor spangle

single factor spangle x double factor spangle =50% single factor spangle50% double factor spangle

double factor spangle x double factor spangle =100% double factor spangle

Spangle budgie parakeet breeding punnett square

All pied budgerigars are characterized by having irregular patches of completely clear feathers appearing anywhere in the body, head or wings. These clear feathers are pure white in blue-series birds and yellow in birds of the green series. Such patches are completely devoid of black melanin pigment. The remainder of the body is colored normally.

Dominant Pied (single factor) yellow face type 2 skyblue English budgie

Dominant pied (single factor) skyblue American parakeet

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Budgie Parakeet Colors, Varieties, Mutations, Genetics

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Genetic Testing in San Antonio, Texas | Start Center for …

More and more, the leading edge of modern cancer care is about targeted and individualized therapies treatments that are designed around the unique characteristics of each cancer patient and his or her cancer. Put simply, different people respond differently to certain treatments, and the same goes for their cancer.

At the START Center for Cancer Care, we are the first cancer-treatment provider in South Texas to offer comprehensive genetic testing of tumors, which is the key to providing state-of-the-art, individualized treatment. Through this genetic testing, our board certified and highly trained cancer specialists are able to look for specific genetic markers that are associated with existing data about the appropriateness and effectiveness of the various treatments.

Through research and genetic profiling of tumor tissue from prior patients, weare now able to see that one anti-cancer drug is likely to work better (or worse)for you than another. For instance, a particular genetic marker is associated with better results with anti-cancer Drug A, while anti-cancer Drug B has shown much lower effectiveness.

In this way, we are able to skip treatments that are likely to have a lower chance of benefiting you. Also, knowing that cancer treatment is itself challenging and burdensome, looking for and finding these genetic markers can spare you many weeks of treatment and side effects with a therapy that isnt going to work. Instead, genetic testing helps us go straight to treatments that have a higher probability of working for you or your loved one.

At START, we provide comprehensive genetic testing of patients tumors. Genetic tumor testing is an invaluable resource in cancer care because of its ability to direct cancer doctors in the informed, science-based selection of targeted therapies, whether for conventional therapies or investigational drugs via clinical trials. With the help of a leading East Texas pathology reference laboratory, we are proud to help our patients as part of our commitment to both world-class care and a new era in cancer treatment.

For more information about genetic testing and how it can improve the efficacy of your individual cancer treatment or to schedule an appointment call the START Center at 210-745-6841. Also, feel free to request an appointment using our easy online form.

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Genetic Testing in San Antonio, Texas | Start Center for ...

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Glossary of Terms | Aplastic Anemia and MDS International …

acute myelogenous leukemia

(uh-KYOOT my-uh-LAH-juh-nuss loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows production of red blood cells and platelets. Some cases of MDS become AML. But most do not. Also called AML, acute myeloblastic leukemia, acute myelocytic leukemia, acute myeloid leukemia.

A procedure where bone marrow stem cells are taken from a genetically matched donor (a brother, sister, or unrelated donor) and given to the patient through an intravenous (IV) line. In time, donated stem cells start making new, healthy blood cells.

See complementary and alternative medicine.

(an-uh-fuh-LAK-suss) A very severe allergic reaction to a foreign protein, as in a bee sting, or to a medicine. This reaction causes the blood pressure to drop and trouble breathing. Before a patient receives ATG, a treatment for aplastic anemia, a skin test is given to find out if they are likely to develop anaphylaxis. Also known as anaphylactic shock.

An approach to treating bone marrow failure using natural male hormones. Androgen therapy can help the bone marrow make more blood cells. This is an older treatment for bone marrow failure that is rarely used because of the side effects. Scientists are studying these medicines to try to better understand why they work in some cases of acquired and genetic bone marrow failure.

(uh-NEE-mee-uh) A condition in which there is a shortage of red blood cells in the bloodstream. This causes a low red blood cell count. Symptoms of anemia are fatigue and tiredness.

(an-tee-by-AH-tik) A medicine that fights bacterial infections. When a person with bone marrow failure does not have enough neutrophils, the white blood cells that fight infection, antibiotics may help to prevent and fight infection.

(ant-i-ko-AG-yuh-lunt) See blood thinner.

(ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells: red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most scientists believe that aplastic anemia happens when the immune system attacks the bone marrow stem cells. Aplastic anemia can be acquired (begin any time in life) or can be hereditary (less common, passed down from parent to child).

Programmed cell death.

(uh-SITE-eez) Extra fluid and swelling in the belly area (abdomen). Also called hydroperitoneum.

Any condition that happens when the immune system attacks the body's own normal tissues by mistake.

A procedure in which some of the patient's own bone marrow stem cells are removed, frozen, and then returned to the through an intravenous (IV) line. In time, the stem cells start making new, healthy blood cells.

Describes one of several ways that a trait or disorder can be inherited, or passed down through families. "Autosomal" means that the mutated, or abnormal, gene is located on one of the numbered, or non-sex, chromosomes. "Dominant" means that only one copy of the mutated gene is enough to cause the disease. Dyskeratosis congenita is a rare cause of bone marrow failure disease. It may have an autosomal dominant, autosomal recessive or x-linked pattern of inheritance.

Describes one of several ways that a trait or disorder can be inherited, or passed down through families. "Autosomal" means that the mutated, or abnormal, gene is located on one of the numbered, or non-sex, chromosomes. "Recessive" means that two copies of a mutated gene must be present to cause the disease. Dyskeratosis congenita is a rare cause of bone marrow failure. It may have an autosomal dominant, autosomal recessive or x-linked pattern of inheritance.

The study of a subject to increase knowledge and understanding about it. The goal of basic research in medicine is to better understand disease. In the laboratory, basic research scientists study changes in cells and molecules linked to disease. Basic research helps lead to better ways of diagnosing, treating, and preventing disease. Also called basic science research.

A type of white blood cell that plays a role in allergic reactions.

A chemical that is widely used by the chemical industry in the United States to make plastics, resins, nylon and synthetic fibers. Benzene is found in tobacco smoke, vehicle emissions, and gasoline fumes. Exposure to benzene may increase the risk of developing a bone marrow failure disease. Benzene can affect human health by causing bone marrow stem cells not to work correctly.

(bil-i-ROO-bun) A reddish yellow substance formed when red blood cells break apart. It is found in the bile and in the blood. Yellowing of the skin and eyes can occur with high levels of bilirubin. Also called total bilirubin.

A substance made from a living system, such as a virus, and used to prevent or treat disease. Biological drugs include antibodies, globulin, interleukins, serum, and vaccines. Also called a biologic or biological drug.

A young white blood cell. The number of blast cells in the bone marrow helps define how severe MDS is in a person. When 20 out of 100 cells in the bone marrow are blasts, this is considered acute myeloid leukemia.

See Blast Cells.

A mass of blood that forms when platelets stick together. Harmful blood clots are more likely to happen in PNH. The term thrombus describes a blood clot that develops and attaches to a blood vessel. The term embolus describes a blood clot or other foreign matter that gets into the bloodstream and gets stuck in a blood vessel.

A medicine used to stop blood clots from forming. Blood thinners can be used to treat or prevent clots. Some common blood thinners are enoxaprin (Lovenox), heparin (Calciparine or Liquaemin), and warfarin (Coumadin). Also called and anticoagulant or thrombopoiesis inhibitor.

A procedure in which whole blood or one of its components is given to a person through an intravenous (IV) line into the bloodstream. A red blood cell transfusion or a platelet transfuson can help some patients with low blood counts.

The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow.

A medical procedure to remove of a small amount of liquid bone marrow through a needle inserted into the back of the hip. The liquid bone marrow is examined for abnormalities in cell size, shape, or look. Tests may also be run on the bone marrow cells to look for any genetic abnormalities.

A medical procedure to remove a small piece of solid bone marrow using a needle that goes into the marrow of the hip bone. The solid bone marrow is examined for cell abnormalities, the number of different cells and checked for scaring of the bone marrow.

A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be hereditary (less common, passed down from parent to child).

A procedure where bone marrow stem cells are collected from marrow inside the donor's hipbone and given to the patient through an intravenous (IV) line. In time, donated stem cells start making new, healthy blood cells.

(bud-kee-AR-ee SIN-drome) A blood clot in the major vein that leaves the liver (hepatic vein). The liver and the spleen may become enlarged. Budd-Chiari syndrome can occur in PNH.

How much of the bone marrow volume is occupied by various types of blood cells.

(kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with abnormal cells. If chemotherapy works in controlling abnormal cells, then relatively normal blood cells will start to grow again. Low-dose chemotherapy agents include: cytarabine (Ara-C) and hydroxyurea (Hydrea). High-dose chemotherapy agents include: daunorubicin (Cerubidine), idarubicin (Idamycin), and mitoxanrone (Novantrone).

The part of the cell that contains our DNA or genetic code.

A medical condition that lasts a long time. A chronic illness can affect a person's lifestyle, ability to work, physical abilities and independence.

A person who gives advice, or counsel, to people who are coping with long-term illness. A chronic illness counselor helps people understand their abilities and limitations, cope with the stress, pain, and fatigue associated with long-term illness. A chronic illness counselor can often be located by contacting a local hospital.

A type of research that involves individual persons or a group of people. There are three types of clinical research. Patient-oriented research includes clinical trials which test how a drug, medical device, or treatment approach works in people. Epidemiology or behavioral studies look at the patterns and causes of disease in groups of people. Outcomes and health services research seeks to find the most effective treatments and health services.

A type of research study that tests how a drug, medical device, or treatment approach works in people. There are several types of clinical trials. Treatment trials test new treatment options. Diagnostic trials test new ways to diagnose a disease. Screening trials test the best way to detect a disease or health problem. Quality of life (supportive care) trials study ways to improve the comfort of people with chronic illness. Prevention trials look for better ways to prevent disease in people who have never had the disease.

Trials are in four phases: Phase I tests a new drug or treatment in a small group to see if it is safe. Phase II expands the study to a larger group of people to find out if it works. Phase III expands the study to an even larger group of people to compare it to the standard treatment for the disease; and Phase IV takes place after the drug or treatment has been licensed and marketed to find out the long-term impact of the new treatment.

To make copies. Bone marrow stem cells clone themselves all the time. The cloned stem cells eventually become mature blood cells that leave the bone marrow and enter the bloodstream.

To thicken. Normal blood platelets cause the blood to coagulate and stop bleeding.

A group of proteins that move freely in the bloodstream. These proteins support (complement) the work of white blood cells by fighting infections.

A medical approach that is not currently part of standard practice. Complementary medicine is used along with standard medicine. Alternative medicine is used in place of standard medicine. Example of CAM therapies are acupuncture, chiropractic, homeopathic, and herbal medicines. There is no complementary or alternative therapy that effectively treats bone marrow failure. Some CAM therapies may even hinder the effectiveness of standard medical care. Patients should talk with their doctor if they are currently using or considering using a complementary or alternative therapy.

A group of tests performed on a small amount of blood. The CBC measures the number of each blood cell type, the size of the red blood cells, the total amount of hemoglobin, and the fraction of the blood made up of red blood cells. Also called a CBC.

A procedure where umbillical cord stem cells are given to the patient through an intravenous (IV) line. Stem cells are collected from an umbilical cord right after the birth of a baby. They are kept frozen until needed. In time, donated stem cells given to the patient begin making new, healthy blood cells.

An imaging technique using x-ray technology and computerization to create a three-dimentional image of a body part. Also called a CT scan, it can be used to locate a blood clot in the body.

A response to treatment indicating that no sign of abnormal chromosomes are found. When a test is done on a patient with 5q deletion MDS, and there are no signs of an abnormal chromosome 5, then that patient has achieved a cytogenetic remission. Also called cytegenetic response.

(sie-toe-juh-NEH-tiks) The study of chromosomes (DNA), the part of the cell that contains genetic information. Some cytogenetic abnormalities are linked to different forms of myelodysplastic syndromes (MDS).

(sie-tuh-PEE-nee-uh) A shortage of one or more blood cell types. Also called a low blood count.

(sie-tuh-TOK-sik) A medicine that kills certain cells. Chemotherapy for MDS patients often involves the use of cytotoxic agents.

A test that helps doctors find out if a person has a problem with blood clotting.

(di-NO-vo) Brand new, referring to the first time something occurs. MDS that is untreated or that has no known cause is called de novo MDS.

The death of part of the intestine. This can happen if the blood supply in the intestine is cut off, for example, from a blood clot in the abdomen. Also called intestinal necrosis, ischemic bowel, dead gut.

A rare form of pure red cell aplasia that can be passed down from parent to child. Diamond-Blackfan anemia (DBA) is characterized by low red blood cell counts detected in the first year of life. Some people with DBA have physical abnormalities such as small head size, low frontal hairline, wide-set eyes, low-set ears. Genetic testing is used to diagnose DBA.

Vitamins, minerals, herbs and other substances meant to improve your nutritional intake. Dietary supplements are taken by mouth in the form of a pill, capsule, tablet or liquid.

To become distinct or specialized. In the bone marrow, young parent cells (stem cells) develop, or differentiate, into specific types of blood cells (red cells, white cells, platelets).

The gene that always expresses itself over a recessive gene. A person with a dominant gene for a disease has the symptoms of the disease. They can pass the disease on to children.

An inherited disease that may lead to bone marrow failure.

Refers to how well a graft (donor cells) is accepted by the host (the patient) after a bone marrow or stem cell transplant. Several factors contribute to better engraftment: physical condition of the patient, how severe the disease is, type of donor available, age of patient. Successful engraftment results in new bone marrow that produces healthy blood cells.

A type of white blood cell that kills parasites and plays a role in allergic reactions.

The study of patterns and causes of disease in groups of people. Epidemiology researchers study how many people have a disease, how many new cases are diagnosed each year, where patients are located, and environmental or other factors that influence disease.

(i-RITH-ruh-site) See red blood cell.

(i-rith-row-POY-uh-tun) A protein made by the kidneys. Erythropoietin, also called EPO, is created in response to low oxygen levels in the body (anemia). EPO causes the bone marrow to make more red blood cells. A shortage of EPO can also cause anemia.

A medicine used to help the bone marrow make more red blood cells. Epoetin alfa (Epogen, Procrit) and darbepoetin alfa (Aranesp) are erythropoietin-stimulating agents that can help boost the red blood cell count of some bone marrow failure patients. Also called red blood cell growth factor.

A form of estrogen, it is the most potent female hormone. It is also present in males. Estradiol is involved in many body functions beyond the reproductive system. Researchers are investigating the role of estradiol in the treatment of genetic bone marrow failure.

The cause or origin of a disease.

A criteria used for classifying different types of myelodysplastic syndromes (MDS). The FAB (French, American, British) Classification System was developed by a group of French, American and British scientists. This system is based on 2 main factors: the percentage of blast cells in bone marrow, and the percentage of blast cells in the bloodstream. The FAB system is somewhat outdated, but is still used by some doctors today. The World Health Organization (WHO) Classification System has largely replaced the FAB Classification System.

A rare inherited disorder that happens when the bone marrow does not make enough blood cells: red cells, white cells, and platelets. Fanconi anemia is diagnosed early in life. People with Fanconi anemia have a high likelihood of developing cancer. Genetic testing is used to diagnose Fanconi anemia.

(FER-i-tin) A protein inside of cells that stores iron for later use by your body. Sometimes ferritin is released into the blood. The ferritin level in the blood is called serum ferritin.

(FER-i-tin) A blood test used to monitor how much iron the body is storing for later use.

(fie-BRO-suss) Scarring of tissue. Fibrosis of the bone marrow is an feature seen in some types of unclassified myeldysplastic syndrome (MDS).

See fluorescence in situ hybridization.

(sy-TOM-uh-tree) A laboratory test that gives information about cells, such as size, shape, and percentage of live cells. Flow cytometry is the test doctors use to see if there are any proteins missing from the surface of blood cells. It is the standard test for confirming a diagnosis of paroxysmal nocturnal hemoglobinuria (PNH).

(flor-EH-sense in SIT-tyoo hy-bru-duh-ZAY-shun) An important laboratory test used to help doctors look for chromosomal abnormalities and other genetic mutations. Fluorescence in situ hybridization, also called FISH, directs colored light under a microscope at parts of chromosomes or genes. Missing or rearranged chromosomes are identified using FISH.

(FOE-late) A B-vitamin that is found in fresh or lightly cooked green vegetables. It helps the bone marrow make normal blood cells. Most people get enough folate in their diet. Doctors may have people with paroxysmal nocturnal hemaglobinuria (PNH) take a man-made form of folate called folic acid.

See folate.

A laboratory test that looks at the whether red blood cells break apart too easily when they are placed in mild acid. This test has been used in the past to diagnose paroxysmal nocturnal hemoglobinuria (PNH). Most doctors now use flow cytometry, a more accurate method of testing for PNH. Ham Test is also called acid hemolysin test.

(hi-MA-tuh-crit) A blood test that measures the percentage of the blood made up of red blood cells. This measurement depends on the number of red blood cells and their size. Hematocrit is part of a complete blood count. Also called HCT, packed cell volume, PCV.

(hee-muh-TOL-uh-jist) A doctor who specializes in treating blood diseases and disorders of blood producing organs.

(hi-mat-uh-poy-EE-suss) The process of making blood cells in the bone marrow.

A condition that occurs when the body absorbs and stores too much iron. This leads to a condition called iron overload. In the United States, hemochromatosis is usually caused by a genetic disorder. Organ damage can occur if iron overload is not treated.

A protein in the red blood cells. Hemoglobin picks up oxygen in the lungs and brings it to cells in all parts of the body.

(hee-muh-gloe-buh-NYOOR-ee-uh) The presence of hemoglobin in the urine.

(hi-MOL-uh-suss) The destruction of red blood cells.

See human leukocyte antigen.

A part of the endocrine system that serves as the body's chemical messengers. Hormones move through the bloodstream to transfer information and instruction from one set of cells to another.

(LEW-kuh-site ANT-i-jun) One of a group of proteins found on the surface of white blood cells and other cells. These antigens differ from person to person. A human leukocyte antigen test is done before a stem cell transplant to closely match a donor and a recipient. Also called HLA.

A condition in which there are too many cells, for example, within the bone marrow. Patients with leukemia have hypercellular bone marrow filled with to many immature white blood cells.

A condition in which there are too few cells, for example, within the bone marrow. Patients with aplastic anemia have hypocellular bone marrow.

Usually refers to any condition with no known cause.

(i-myoo-no-KOM-pruh-mized) Occurs when the immune system is not functioning properly, leaving the patient open to infection. A person can be immunocompromised due to low white blood cell count or due to some medicines. Also called immune compromised.

(i-myoo-no-suh-PREH-siv) Drugs that lower the body's immune response and allow the bone marrow stem cells to grow and make new blood cells. ATG (antithymocyte globulin) or ALG (antilymphocyte globulin) with cyclosporine are used to treat bone marrow failure in aplastic anemia. Immunosuppressive drugs may help some patients with myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH).

A committee that makes sure a clinical trial is safe for patients in the study. Each medical center, hospital, or research facility doing clinical trials must have an active Institutional Review Board (IRB). Each IRB is made up of a diverse group of doctors, faculty, staff and students at a specific institution.

A system that turns patient data into a score. The score tells how quickly a myelodysplastic syndrome (MDS) case is progressing and helps predict what may happen with the patient's MDS in the future. Also called IPSS.

A method of getting fluids or medicines directly into the bloodstream over a period of time. Also called IV infusion.

A new drug, antibiotic drug, or biological drug that is used in a clinical trial. It also includes a biological product used in the laboratory for diagnostic purposes. Also called IND.

(kee-LAY-shun) A drug therapy to remove extra iron from the body. Patients with high blood iron (ferritin) levels may receive iron chelation therapy. The U.S. Food and Drug Administratin (FDA) has approved two iron chelators to treat iron overload in the U.S.: deferasirox, an oral iron chelator, and deferoxamine, a liquid given by injection.

A condition that occurs when too much iron accumulates in the body. Bone marrow failure disease patients who need regular red blood cell transfusions are at risk for iron overload. Organ damage can occur if iron overload is not treated.

(iss-KEE-mee-uh) Occurs when the blood supply to specific organ or part of the body is cut off, causing a localized lack of oxygen.

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Glossary of Terms | Aplastic Anemia and MDS International ...

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Stem Cell-Based Therapy for Cartilage Regeneration and …

Our initial application established the goals of our project and the reasons for our study. Arthritis is the result of degeneration of cartilage (the tissue lining the joints) and leads to pain and limitation of function. Arthritis and other rheumatic diseases are among the most common of all health conditions and are the number one cause of disability in the United States. The annual economic impact of arthritis in the U.S. is estimated at over $120 billion, representing more than 2% of the gross domestic product. The prevalence of arthritic conditions is also expected to increase as the population increases and ages in the coming decades. Current treatment options for osteoarthritis are limited to pain reduction and joint replacement surgery. Stem cells have tremendous potential for treating disease and replacing or regenerating the diseased tissue. In this project our objective is to use cells derived from stems cells to treat arthritis. We have completed our experiments as per our proposed timeline and have met milestones outlined in our grant submission. We have established conditions for converting stem cells into cartilage tissue cells that can repair bone and cartilage defects in laboratory models. We have identified several cell lines with the highest potential for tissue repair. We optimized culture conditions to generate the highest quality of tissue. In our initial experiments we found no evidence of cell rejection response in vivo. We have testing efficacy of the most promising cell lines in regenerating healthy repair tissue in cartilage defects and have selected a preclinical candidate.The next step is to plan safety and efficacy studies for the preclinical phase, identify collaborators with the facilities to obtain, process, and provide cell-based therapies, and identify clinical collaborators in anticipation of clinical trials. If necessary we will also identify commercialization partners. We also anticipate that stem cells implanted in arthritic cartilage will treat the arthritis in addition to producing tissue to heal the defect in the cartilage. An approach that heals cartilage defects as well as treats the underlying arthritis would be very valuable. If our research is successful, this could lead to first treatment of osteoarthritis that alters the progression of the disease. This treatment would have a huge impact on the large numbers of patients who suffer from arthritis as well as in reducing the significant economic burden created by arthritis.

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Stem Cell-Based Therapy for Cartilage Regeneration and ...

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Medical genetics – Wikipedia

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, and mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. Increasingly, clinicians use SimulConsult, paired with the National Library of Medicine Gene Review articles, to narrow the list of hypotheses (known as the differential diagnosis) and identify the tests that are relevant for a particular patient. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no "cure" for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound "A" is metabolized to "B" by enzyme "X", compound "B" is metabolized to "C" by enzyme "Y", and compound "C" is metabolized to "D" by enzyme "Z". If enzyme "Z" is missing, compound "D" will be missing, while compounds "A", "B", and "C" will build up. The pathogenesis of this particular condition could result from lack of compound "D", if it is critical for some cellular function, or from toxicity due to excess "A", "B", and/or "C". Treatment of the metabolic disorder could be achieved through dietary supplementation of compound "D" and dietary restriction of compounds "A", "B", and/or "C" or by treatment with a medication that promoted disposal of excess "A", "B", or "C". Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. It should be noted that the information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US Practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a "snapshot" of an individual's health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]

Read more:
Medical genetics - Wikipedia

Recommendation and review posted by Bethany Smith


Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. The only thing we know for sure is that things will change irreversibly.

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Thanks to Volker Henn, James Gurney and (prefers anonymity) for help with this video!


Jeffrey Schneider, Konstantin Kaganovich, Tom Leiser, Archie Castillo, Russell Eishard, Ben Kershaw, Marius Stollen, Henry Bowman, Ben Johns, Bogdan Radu, Sam Toland, Pierre Thalamy, Christopher Morgan, Rocks Arent People, Ross Devereux, Pascal Michaud, Derek DuBreuil, Sofia Quintero, Robert Swiniarski, Merkt Kzlrmak, Michelle Rowley, Andy Dong, Saphir Patel, Harris Rotto, Thomas Huzij, Ryan James Burke, NTRX, Chaz Lewis, Amir Resali, The War on Stupid, John Pestana, Lucien Delbert, iaDRM, Jacob Edwards, Lauritz Klaus, Jason Hunt, Marcus : ), Taylor Lau, Rhett H Eisenberg, Mr.Z, Jeremy Dumet, Fatman13, Kasturi Raghavan, Kousora, Rich Sekmistrz, Mozart Peter, Gaby Germanos, Andreas Hertle, Alena Vlachova, Zdravko aek


The best book we read about the topic: GMO Sapiens

(affiliate link, we get a cut if buy the book!)

Good Overview by Wired:

timeline of computer development:

Selective breeding:


Radiation research:

inserting DNA snippets into organisms:

First genetically modified animal:

First GM patent:

chemicals produced by GMOs:

Flavr Savr Tomato:

First Human Engineering:

glowing fish:


HIV cut from cells and rats with CRISPR:

first human CRISPR trials fighting cancer:

first human CRISPR trial approved by Chinese for August 2016:

genetic diseases:

pregnancies with Down Syndrome terminated: 1999 European study)

CRISPR and aging:

Help us caption & translate this video!


Recommendation and review posted by simmons

Freeze Yourself To Live Forever? The Truth About Cryonics …

If death was imminent, would you consider cryogenically freezing yourself, with the hopes that one day future technology would bring you back to life? Battling with brain cancer, thats what 22 year old Kim Suozzi did, and there are others just like her! But does this have any basis in science? Trace has the answers!

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Freeze Yourself To Live Forever? The Truth About Cryonics ...

Recommendation and review posted by Bethany Smith

Genetic Testing UNM Comprehensive Cancer Center


The expanding field of genetics and growing research linking mutations in specific genes to increased risk of cancer (cancer susceptibility genes) have led to an interest in predictive genetic testing. This testing may help identify people who are at an increased risk for developing certain types of cancer. While predictive genetic testing may provide information and benefits for some people, it also carries many limitations and risks. People considering undergoing genetic testing need to fully understand the process and its implications.

Genetics and Cancer

A gene is a hereditary unit of DNA that occupies a specific location on a chromosome. Genes carry directions to cells and tell them to make specific proteins that perform and regulate all body functions. Genes are capable of replicating themselves at each cell division. A mutation is a change in the usual DNA sequence of a particular gene. Mutations can be beneficial, harmful, or neutral. Many diseases, including cancer, begin in the genes. The genetic mutation that causes cancer can be inherited from a parent or it can be a random mutation that occurs as a result of a mistake during cell division or in response to environmental factors.

Current research suggests that only 5-10% of cancers are inherited. This hereditary influence begins with the genes that are passed from parent to child. Genes come in pairs, with one copy inherited from each parent. Parents can pass on a normal copy or, if they have one, an abnormal or mutated copy of a gene. Determining the probability of inheriting a gene mutation and/or of developing cancer as a result of a gene mutation is a complicated process that requires an understanding of heredity, genetics and the role of genes.

Predictive Genetic Testing

Modern technology has enabled us to identify relationships between specific genetic mutations and some cancers. As we continue to learn more about genetic mutations and identify additional mutations, the role of genetic testing will continue to grow.

Predictive genetic testing is used to determine if an individual has a genetic that may predispose him/her to developing cancer. An accurate test will reveal a genetic mutation, but cannot guarantee that a person will develop cancer. Likewise, a genetic test that does not find a specific mutation cannot guarantee that an individual will not develop cancer. These tests only suggest that a person may or may not be at some level of increased risk.

Genetic Counseling: Genetic counseling is crucial to the entire process of genetic testing. Individuals considering undergoing genetic testing should first meet with a genetic counselor. The genetic counselor has a multi-faceted role. Prior to testing, the genetic counselor can address individuals needs and concerns and educate people about what to expect from genetic testing. The genetic counselor also can help people to understand their family history and their genetic risks. In addition, the genetic counselor informs people of the risks, limitations and benefits of undergoing testing, so that they can make informed choices about whether genetic testing is appropriate for them. Should an individual choose to undergo the testing, genetic counselors then help him/her evaluate and understand the results and make informed choices about future health care.

Family History: Prior to undergoing genetic testing, it is important to develop a complete family history. The family history should include information from both the biologic mother and father and all of their close relatives. In addition, geographical heritage and ethnicity may prove to be key factors influencing genetic risk. The family history needs to include information about cancer, as well as any other significant health problems in the family. Once a complete family history is developed, a genetic counselor can develop a pedigree, which is a graphic representation of family relationships that shows patterns of disease. The genetic counselor can then analyze the pedigree to determine whether a cancer susceptibility syndrome is present in the family and to determine the most likely pattern of inheritance. The pedigree can also provide clues regarding the risk of cancer.

Testing: If a pedigree indicates that a hereditary genetic mutation could exist in a family, a patient may choose to undergo genetic testing. Many experts recommend undergoing genetic testing only when a pedigree analysis suggests the presence of an inherited cancer syndrome for which a specific mutation has been identified. Other guidelines suggest that genetic testing should be pursued only when the test will impact future medical care and decisions. Predictive genetic tests provide the most useful information when a living family member who is affected with the cancer is tested first. If a mutation is found, then other family members may wish to be tested for the presence or absence of this mutation. However, if no mutation is found in the affected family member, there is no reason to test unaffected family members because the test will be considered uninformative. There are many different types of genetic tests that are used to test for different mutations; therefore, it is important that the genetic counselor carefully examines the pedigree and selects the appropriate genetic test.

Evaluating the results: After the test, an individual may still choose not to receive the results because with a greater understanding of the implications of the test, they may have decided that they would prefer not to know the results. The genetic counselor plays an important role in this decision process and should ensure that the individual knows the limitations of the test and the implications of the results before committing to seeing the results. If an individual does decide to view the results, the genetic counselor can help to explain the results and what they mean.

If a result is positive, the genetic counselor can help the person to understand the risk of developing cancer. In addition, the counselor can help the person develop a plan of action for notifying family members of their potential risk for carrying an inherited mutation. At this point, the counselor can also discuss potential preventive measures and screening procedures that the person can undergo in order to prevent or detect the cancer early, should it develop.

It is important to understand that if an individual does test positive for a mutation that is not present in an affected family member, it is difficult to interpret the risk posed by this mutation. In such cases, it is unlikely that the mutation was inherited. Rather, it was probably the result of mistakes during cell division in their lifetime. While such results would be of interest to the individual, they do not indicate risk for other family members.

If the result is negative, the genetic counselor can help the patient interpret what this means. A negative test result is not a guarantee that a person will not develop cancer. In fact, a genetic counselor should discuss the difference between a false negative and a true negative. A false negative means that the person does indeed carry a genetic mutation, but the test missed it. In addition, there is always the chance that the individual has a different genetic mutation that cannot be identified by the specific test that was used.

Implications of Predictive Genetic Testing

There are not only benefits, but also limitations and risks involved with undergoing predictive genetic testing. People considering these tests need to understand the limitations before they commit to undergoing the procedure.

Limitations: Perhaps the greatest limitation of predictive genetic testing is that it is predictive, not definitive. The test results provide few black and white answers. A negative test result does not mean that a person will not develop cancer, just as a positive test result does not mean that a person will develop the disease. In addition, the results are not modifiable, so if a person is found to be at an increased risk for developing cancer and pursues preventive strategies, there is no way to measure the impact of these strategies. Despite technological advances, no tests are 100% accurate. A test may fail to identify an existing cancer-causing mutation (false negative) or it may incorrectly identify a gene as mutated (false positive.) Testing techniques vary, therefore, it is important to know which method is being used and what the chances are of finding an existing mutation.

Benefits: Predictive genetic testing can identify the cause for cancer in a family and, as a result, could help to identify family members who are at a high risk for developing cancer. This would allow people to take preventive measures and to undergo more frequent screening procedures to detect cancers at early stages when they are most treatable. In addition, genetic testing could identify that a person is not at an increased risk for developing cancer and, as a result, eliminate uncertainty or anxiety. This would also eliminate the need for more frequent screening procedures and would prevent unnecessary preventive measures.

Risks: The potential that the results of these tests could be placed in medical files poses risks for discrimination. People identified as high-risk for developing cancer could be discriminated against in terms of obtaining health, life and disability insurance and employment. On the other hand, if people identified as high-risk manage to withhold the results from their insurance company, they may not be able to justify their need for frequent screening procedures. There are also psychological risks associated with genetic testing. Some people may experience increased anxiety regarding their chance of developing cancer. Others may experience guilt as a result of learning that they did not inherit a mutation while other family members did. These situations can cause tension within family relationships as well.

Current Status

It is important for people to understand all of the issues surrounding genetic testing before committing to undergoing the procedure. Genetic testing can be valuable if people can use the information to make medical and lifestyle decisions that could help to decrease their risk of developing cancer, or at least assist them in detecting the cancer early when it is most treatable. Anyone considering genetic testing should first determine if there is a test designed to identify a mutation for the specific cancer in which they are interested. If so, it will be important to study the information about the tests and the groups in which it has been used. A genetic counselor can play a vital role in advising people and helping them through this process.

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Genetic Testing UNM Comprehensive Cancer Center

Recommendation and review posted by simmons

You and Your Endocrinologist | Hormone Health Network

Endocrinology is the study of medicine that relates to the endocrine system, which is the system that controls hormones.Endocrinologists are specially trained physicians who diagnose diseases related to the glands. Because these doctors specialize in these conditions, which can be complex and have hard-to-spot symptoms, an endocrinologist is your best advocate when dealing with hormonal issues.

Most patients begin their journey to the endocrinologist with a trip to their primary care provider or family doctor. This doctor will run a series of tests to see what could be the potential problem the patient is facing. If a problem with the hormones is suspected, the primary care doctor will provide a referral. The endocrinologist's goal is to restore hormonal balance in the body.

The glands in a person's body release hormones. Endocrinologists treat people who suffer from hormonal imbalances, typically from glands in the endocrine system or certain types of cancers. The overall goal of treatment is to restore the normal balance of hormones found in a patient's body. Some of the more common conditions treated by endocrinologists include:

Most of the work performed by an endocrinologist serves as the basis for ongoing research. Some endocrinologists work solely as research physicians. The goal of the research is to come up with new ways to better treat hormonal imbalances, including the development of new drugs.

The first step to become an endocrinologist is earning a bachelor's degree from an accredited college or university. Toward the end of the bachelor's program, a student will then have to apply for and be accepted to medical school. Once accepted, four more years of schooling will have to be completed. Most endocrinologists will complete a residency that lasts anywhere from three to four years. After schooling has been completed, it is then mandated that a state licensure be obtained.

Common courses that will have to be completed to become an endocrinologist include:

It usually takes at least 10 years for a person to complete all of the necessary coursework, schooling and training to become an endocrinologist. From the year 2010 through 2020, there is an expected growth rate of 24 percent for this position. Before a person starts the educational path to becoming this type of physician, it is highly recommended that he or she carefully consider whether or not it is the right path.

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You and Your Endocrinologist | Hormone Health Network

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Cardiac Stem Cells – Cedars-Sinai

Preclinical Research

Scientists are developing novel therapeutics for the treatment of cardiovascular diseases using cardiac-derived stem cells in mice and large-animal models. Three current projects are studying:

ExosomesOur researchers are isolating exosomes from specialized human cardiac-derived stem cells and finding that they have the same beneficial effects as other types of stem cells. In mice models, our research shows that exosomes produce the same post-surgery benefits, such as decreasing scar size, increasing healthy heart tissue and reducing levels of chemicals that lead to inflammation. This research suggests that exosomes convey messages that reduce cell death, promote growth of new heart muscle cells and encourage the development of healthy blood vessels.

Mechanisms of Heart Regeneration by Cardiosphere-Derived CellsInvestigators seek to understand the basic mechanisms of coronary artery disease in preclinical disease models. We hope to gather novel mechanistic insights, enabling us to boost the efficacy of stem cell-based treatments by bolstering the regeneration of injured heart muscle.

Biological PacemakersUsing an engineered virus carrying T-box (TBx18), Cedars-Sinai researchers are reprogramming heart muscle cells (cardiomyoctes) into induced sinoatrial node cells in pigs. Cedars-Sinai research shows that these new cells generate electrical impulses spontaneously and are indistinguishable from sinoatrial node or native pacemaker cells. Investigators believe this could be a viable therapeutic avenue for pacemaker-dependent patients afflicted with device-related complications.

Researchers hope to someday incorporate therapeutic regeneration as a regular treatment option for a broad range of cardiovascular disorders, such as myocardial infarctions, heart failure, refractory angina and peripheral vascular disease. Through the Regenerative Medicine Clinic at the Cedars-Sinai Heart Institute, several cardiac stem cell trials are underway. They include:

More here:
Cardiac Stem Cells - Cedars-Sinai

Recommendation and review posted by simmons

Cell Replacement Therapy For Parkinsons Disease And The …

The following was written withProf. Gerold Riempp, a professor of information systems who was diagnosed with Parkinsons disease 16 years ago at age 36. He is co-founder of a charitable organization in Germany that supports the development of therapies that aim to cure PD.

The idea behind cell replacement therapy(CRT) for PD is pretty simple: lack of mobility in PD is the result of the dysfunction and death of a specific kind of cell in the midbrain. While there are a few other things that go wrong in PD, the progressive loss of motor skills is the biggest problem most diagnosed face. Since we are reasonably sure that this lack of mobility results from the impairment and death of dopamine producing cells in an area of the midbrain called the substantia nigra,why not try to replace those cells?

A group of iPS cells grown from human skin tissue at Osaka University

Replacing those cells is one of three core problems that each person diagnosed with PD needs to address. They are:

1. Keeping remaining cells healthyOnce diagnosed, most people have already lost production of 50-80% of dopamine in their midbrain. The problem then is to stop further disease progression by figuring out how to get rid of everything that might be harming the remaining 20-50% of cells while giving their body everything it needs to keep those cells alive and active.

2. Clearing clogged cellsOf those 50-80% of non-dopamine producing cells, a portion are still alive, they are just not doing their job, producing dopamine. This impairment is a result of a range of interrelated factors that harm the cells and eventually lead to their death. Most researchers believe the problem can be boiled down to the clumping of a misfolded protein called alpha-synuclein. Many different methods are being tried in labs around the world to clear these clumps and stop more from accumulating. But this might only be part of the story since a wide variety of other factors also lead to cell death.

3. Replacing dead cellsThen we come to what to do about all of those dead cells. A couple of different options are being considered to get the brain tostimulate the production of new neurons orreplace the function of dead ones. However, the most promising therapy being developed is stem cell therapy, now commonly referred to as cell replacement therapy. It works by placing new dopamine producing neurons into the part of the brain where the dead neurons used to release dopamine.

If a patient manages to address problems one and two they might have no need for CRT. The reason for this is that he or she can likely rescue a considerable portion of the damaged but still living cells and thereby bring dopamine production back to a level that allows for normal movement. CRT will generally be for people who have had PD for a longer time and whose remaining healthy cells plus the rescued ones together are not capable of providing enough dopamine.

The late 80s and 90s saw a number of CRT trials for Parkinsons disease with mixed results. But we nowhave a much better understanding of what kind of cells to use, how to culture and store those cells, how to implant them, and who this therapy would be best for.

We also now have iPS cells (induced pluripotent stem cells). Discovered in 2006, these are cells that have been chemically reprogrammed, usually from adult skin tissue, back into pluripotent stem cells. (Pluripotent means they are capable of becoming almost any cell in the body). Using these cells for transplantation has two major advantages. One, it eliminates the need for potentially harmful immuno-suppressors. Two, it has none of the ethical issues that come with using fetal stem cells. But iPS cells are much more expensive and technically difficult to produce.

Despite all the progress made, cell replacement therapy is still very controversial and fraught with all sorts of technical issues. Luckily, CRT for PD is one of the only fields of medical science where the top labs around the world are cooperating with each other. An international consortium of labs has come together under a name that sounds like it was ripped out of a Marvel comic, the GForce-PD. Each lab in the GForce-PD aims to bring CRT for PD to clinical trial within the next few years.

Infographic made by PhD neuroscientist Kayleen Schreiber at

The GForce-PD

New York City Run by Dr. Lorenz Studer out of the Rockefeller research labs in New York City. Dr. Studer pioneered many of the reprogramming techniques being used around the world to convert pluripotent stem cells into dopamine producing neurons. His lab wasrecently announced to be part of a huge funding initiative from Bayer Pharmaceuticals to help speed up development of CRT. Studers lab is aiming to start transplantation of embryonic stem cells in human trials in early 2018.

Kyoto, Japan Dr. Jun Takahashis lab in Kyoto is working on producing several iPS lines for the Japanese population. One advantage they have is the relative homogeneity of Japanese people allows them to use a dozen or so iPS lines for almost everyone in the country. The lab recently made headlines with results from monkey trials that showed human iPS cells graft safely, with no signs of malignant growth, two years after transplantation.

Cambridge, England Dr. Roger Barkers lab has been working on cell replacement therapy for Parkinsons disease for a number of years through the Transeuro project. His lab is pushing forward with more embryonic stem cell transplantations expected to begin in 2020. They also work very closely with the team in Sweden.

Lund, Sweden The lab in Lund has been working on CRT for PD since the 80s and has been part of a number of human trials. The lab is now run by Dr. Malin Parmar whose team has also pioneered many of the techniques used in direct programming that will one day allow researchers to skip the stem cell phase all together and produce dopamine cells directly in the brain.

San Diego, California The team is moving rapidly towards iPS cell transplantation under Dr. Jeanne Loring at the Scripps research center. They are the only lab that uses patients own cells for transplantation. Another unique feature of this lab is that it has been a community funded initiative under theSummit For Stem Cellsfoundation.

(Dr. Roger Barker talking about CRT for PD)

Though there is a lot of excitement building around cell replacement therapy, we need to proceed carefully. The field has potential for setbacks from some of the less rigorous trials being conducted in places like Australia and China where regulatory standards are more lax. Researchers in these areas are already going ahead with trials that do not meet the standards set by the GForce-PD. These have the potential to put a black-eye on all cell replacement therapies.

Also, producing pure batches of dopamine neurons is still a highly technical process that only a few labs in the world are capable of doing safely and effectively. Thankfully a few other labs around the world are joining the efforts of the GForce-PD, such as Dr. Tilo Kunaths lab in Edinburgh, which is working on techniques to better differentiate and characterize the cell lines used for transplantation.

(The pictures above show human embryonic stem cells being differentiated into dopamine cells at days 2, 4 and 7. Courtesy of Dr. Tilo Kunaths lab at the University of Edinburgh)

The Future of Cell Replacement Therapy

These therapies being developed for Parkinsons disease will, in essence, be version 1.0 of CRT. Clinical trials are set to begin next year and the therapy is expected to be widely available to people diagnosed with Parkinsons disease within the next 5-10 years.

Version 2.0 will be CRISPR-modified, disease resistant grafts, with genetic switches to modulate dopamine production and graft size.

Version 3.0 will make use of an emerging field called in vivo direct programming where viruses are inserted into the brain and transform other existing cells into dopamine producing cells.

(Edit: Credit to Dr. Tilo Kunath for correcting versions 2.0 and 3.0)

Dopamine neurons grown from iPS cells at 40 times magnification, from the Gladstone Institute

CRT for PD is one of the most exciting areas of research on the planet. It is a powerful demonstration of the progress we as a species have made in our attempt to gain mastery over the forces of biology.It has the potential to improve the lives of the millions living with PD, and the millions yet to be diagnosed. Once the transplanted cells have connected with their surroundings and start delivering dopamine to the right places, it should allow patients to gradually reduce their medication. Being able to move normally and not deal with the side effects of all the drugs and other therapies is what PD patients around the world are dreaming of.

Click here for more information on the future of cell replacement therapy for Parkinsons disease and the work of the GForce-PD.

And if you want to be part of bringing CRT to the clinic you can do so by supporting organizations like Summit For Stem Cells.

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23andMe – Official Site

DNA Genetic Testing & Analysis - 23andMe

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You are made of cells. And the cells in your body have 23 pairs of chromosomes. Yourchromosomes are made of DNA, which can tell you a lot about you. Explore your 23 pairstoday.

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Our Ancestry Service helps you understand who you are, where your DNA comes from and your family story. Weanalyze, compile and distill your DNA information into reports on your Ancestry Composition,Maternal & Paternal Haplogroups, NeanderthalAncestry, Your DNA Family and provide a DNA Relatives tool to enable you to connect with relatives who sharesimilar DNA.

*The 23andMe PGS test uses qualitative genotyping to detect clinically relevant variants in the genomic DNA of adultsfrom saliva collected using an FDA-cleared collection device (OrageneDX model OGD-500.001) for the purpose ofreporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose anydisease. The relevance of each report may vary based on ethnicity. Each genetic health risk report describes if aperson has variants associated with a higher risk of developing a disease, but does not describe a person's overallrisk of developing the disease. These reports are not intended to tell you anything about your current state ofhealth, or to be used to make medical decisions, including whether or not you should take a medication or how much ofa medication you should take. Our carrier status reports can be used to determine carrier status, but cannotdetermine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anythingabout your risk for developing a disease in the future or anything about the health of your fetus, or your newbornchild's risk of developing a particular disease later in life. For Gaucher Disease Type 1, we provide a single reportthat includes information on both carrier status and genetic health risk.The Parkinson's Disease genetic health risk report (i) is indicated for reporting of the G2019S variant in the LRRK2gene, and the N370S variant in the GBA gene, (ii) describes if a person has variants associated with an increased riskof developing Parkinson's disease, and (iii) is most relevant for people of European, Ashkenazi Jewish, and NorthAfrican Berber descent.




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2 variantsinthe ARMS2 and CFH genes;relevant for European descent

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2 variantsinthe ARMS2 and CFH genes;relevant for European descent

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2 variantsnearthe HLA-DQA1 and HLA-DQB1 genes;relevant for European descent

2 variantsinthe HFE gene;relevant for European descent

2 variantsinthe F2 and F5 genes;relevant for European descent

1 variantinthe APOE gene;variant found and studied in many ethnicities

2 variantsinthe LRRK2 and GBA genes;relevant for European, Ashkenazi Jewish, North African Berber descent

1 variant in the SACSgene; relevant for French Canadian descent

1 variant in the SLC12A6gene; relevant for French Canadian descent

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Recommendation and review posted by sam

bone marrow/stem cell transplant –

If you or a loved one will be having a bone marrow transplant or donating stem cells, what does it entail? What are the different types of bone marrow transplants and what is the experience like for both the donor and recipient?

A bone marrow transplant is a procedure in which when special cells (called stem cells) are removed from the bone marrow or peripheral blood, filtered and given back either to the same person or to another person.

Since we now derive most stem cells needed from the blood rather than the bone marrow, a bone marrow transplant is now more commonly referred to as stem cell transplant.

Bone marrow is found in larger bones in the body such as the pelvic bones. This bone marrow is the manufacturing site for stem cells. Stem cells are "pluripotential" meaning that the cells are the precursor cells which can evolve into the different types of blood cells, such as white blood cells, red blood cells, and platelets.

If something is wrong with the bone marrow or the production of blood cells is decreased, a person can become very ill or die. In conditions such as aplastic anemia, the bone marrow stops producing blood cells needed for the body. In diseases such as leukemia, the bone marrow produces abnormal blood cells.

The purpose of a bone marrow transplant is thus to replace cells not being produced or replace unhealthy stem cells with healthy ones.

This can be used to treat or even cure the disease.

In addition for leukemias, lymphomas, and aplastic anemia, stem cell transplants are being evaluated for many disorders, ranging from solid tumors to other non-malignant disorders of the bone marrow, to multiple sclerosis.

There are two primary types of bone marrow transplants, autologous and allogeneic transplants.

The Greek prefix "auto" means "self." In an autologous transplant, the donor is the person who will also receive the transplant. This procedure, also known as a "rescue transplant" involves removing your stem cells and freezing them. You then receive high dose chemotherapy followed by infusion of the thawed out frozen stem cells. It may be used to treat leukemias, lymphomas, or multiple myeloma.

The Greek prefix "allo" means "different" or "other." In an allogeneic bone marrow transplant, the donor is another person who has a genetic tissue type similar to the person needing the transplant. Because tissue types are inherited, similar to hair color or eye color, it is more likely that you will find a suitable donor in a family member, especially a sibling. Unfortunately, this occurs only 25 to 30 percent of the time.

If a family member does not match the recipient, the National Marrow Donor Program Registry database can be searched for an unrelated individual whose tissue type is a close match. It is more likely that a donor who comes from the same racial or ethnic group as the recipient will have the same tissue traits.

Learn more about finding a donor for a stem cell transplant.

Bone marrow cells can be obtained in three primary ways. These include:

The majority of stem cell transplants are done using PBSC collected by apheresis (peripheral blood stem cell transplants.) This method appears to provide better results for both the donor and recipient. There still may be situations in which a traditional bone marrow harvest is done.

Donating stem cells or bone marrow is fairly easy. In most cases, a donation is made using circulating stem cells (PBSC) collected by apheresis. First, the donor receives injections of a medication for several days that causes stem cells to move out of the bone marrow and into the blood. For the stem cell collection, the donor is connected to a machine by a needle inserted in the vein (like for donating blood.) Blood is taken from the vein, filtered by the machine to collect the stem cells, then returned back to the donor through a needle in the other arm. There is almost no need for a recovery time with this procedure.

If stem cells are collected by bone marrow harvest (much less likely,) the donor will go to the operating room and while asleep under anesthesia, a needle will be inserted into either the hip or the breastbone to take out some bone marrow. After awakening, there may be some pain where the needle was inserted.

A bone marrow transplant can be a very challenging procedure for the recipient.

The first step is usually receiving high doses of chemotherapy and/or radiation to eliminate whatever bone marrow is present. For example, with leukemia, it is first important to remove all of the abnormal bone marrow cells.

Once a person's original bone marrow is destroyed, the new stem cells are injected intravenously, similar to a blood transfusion. The stem cells then find their way to the bone and start to grow and produce more cells (called engraftment.)

There are many potential complications. The most critical time is usually when the bone marrow is destroyed so that few blood cells remain. Destruction of the bone marrow results in greatly reduced numbers of all of the types of blood cells (pancytopenia.) Without white blood cells there is a serious risk of infection, and infection precautions are used in the hospital (isolation.) Low levels of red blood cells (anemia) often require blood transfusions while waiting for the new stem cells to begin growing. Low levels of platelets (thrombocytopenia) in the blood can lead to internal bleeding.

A common complication affecting 40 to 80 percent of recipients is graft versus host disease. This occurs when white blood cells (T cells) in the donated cells (graft) attack tissues in the recipient (the host,) and can be life-threatening.

An alternative approach referred to as a non-myeloablative bone marrow transplant or "mini-bone marrow transplant" is somewhat different. In this procedure, lower doses of chemotherapy are given that do not completely wipe out or "ablate" the bone marrow as in a typical bone marrow transplant. This approach may be used for someone who is older or otherwise might not tolerate the traditional procedure. In this case, the transplant works differently to treat the disease as well. Instead of replacing the bone marrow, the donated marrow can attack cancerous cells left in the body in a process referred to as "graft versus malignancy."

If you'd like to become a volunteer donor, the process is straightforward and simple. Anyone between the ages of 18 and 60 and in good health can become a donor. There is a form to fill out and a blood sample to give; you can find all the information you need at the National Marrow Donor Program Web site. You can join a donor drive in your area or go to a local Donor Center to have the blood test done.

When a person volunteers to be a donor, his or her particular blood tissue traits, as determined by a special blood test (histocompatibility antigen test,) are recorded in the Registry. This "tissue typing" is different from a person's A, B, or O blood type. The Registry record also contains contact information for the donor, should a tissue type match be made.

Bone marrow transplants can be either autologous (from yourself) or allogeneic (from another person.) Stem cells are obtained either from peripheral blood, a bone marrow harvest or from cord blood that is saved at birth.

For a donor, the process is relatively easy. For the recipient, it can be a long and difficult process, especially when high doses of chemotherapy are needed to eliminate bone marrow. Complications are common and can include infections, bleeding, and graft versus host disease among others.

That said, bone marrow transplants can treat and even cure some diseases which had previously been almost uniformly fatal. While finding a donor was more challenging in the past, the National Marrow Donor Program has expanded such that many people without a compatible family member are now able to have a bone marrow/stem cell transplant.


American Society of Clinical Oncology. Cancer.Net. What is a Stem Cell Transplant (Bone Marrow Transplant)? Updated 01/16.

U.S. National Library of Medicine. MedlinePlus. Bone Marrow Transplant. Updated 10/03/17.

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bone marrow/stem cell transplant -

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Sara Gottfried MD | At Home in Your Body, At Last

By Sara Gottfried MD

Jill, a patient of mine, felt a true physiological need for caffeine, similar to how a diabetic needs insulin. She couldnt imagine life without coffee. The thought of removing it from her daily routine almost caused her to miss out on one of the most important decisions of her life, which was doing The Hormone Reset Diet. In retrospect, she was glad that she didnt [Read More...]

By Sara Gottfried MD

Lets start with an insulin reset! Remember, the seventy- two- hour reset is a simple way to take care of the chronic symptoms that plague you, especially fat gain. Each cycle takes a mere three days to reverse and reset your bodys hormone receptors. Of course, the Hormone Reset is a twenty-one-day program, so as you focus on each reset and tune into the changes that [Read More...]

By Sara Gottfried MD

The patient I am going to describe is unique in her own issues, but her frustration with conventional medicine could be duplicated in my practice many times over.Louisa is a forty-five-year-old teacher and mother of two. After the birth of her children, she was unable to lose the twenty-five pounds she gained and she was experiencing profound fatigue. After [Read More...]

By Sara Gottfried MD

With the release of my newest book Younger, Ive spent a lot of time recently thinking about aging. As a doctor, I not only look at the physiological external effects of aging, such as the wrinkles, hair loss, and weight changes, but also the internal changes: thinning bones, failing memory, rising inflammation, and declining mood. These are very real challenges that [Read More...]

By Sara Gottfried MD

As a woman, youre on ahormonal roller coaster ridemost of your life. My books The Hormone Cure, The Hormone Reset Diet, and Younger were born of my passion to help women,one hormone at a time. I want to help you do that so you can stay looking and feeling great at every age.Hormones are chemical messages, like text messages sent from an endocrine gland [Read More...]

By Sara Gottfried MD

Many women hesitate to bring up the topic of constipation with their doctor. While its common, few women want to talk about it. But constipation is not an issue you want to keep under wraps. When your bowel movements are regular, chances are that your hormonescortisol, estrogen, and thyroidare working at their best.[1] Below are my natural remedies for [Read More...]

By Sara Gottfried MD

I woke up from anesthesia about two months ago, euphoric from the certainty that I made the right choice to undergo a bilateral prophylactic mastectomy for a faulty breast cancer gene called CHEK2. I snapped a quick selfie, unadorned and very raw, in my hospital bed and wanted to share it with you (see photo).Breasts are an important symbol of so many things: [Read More...]

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Sara Gottfried MD | At Home in Your Body, At Last

Recommendation and review posted by simmons

Induction of fertility in men with secondary hypogonadism


Sperm production cannot be stimulated in men who are infertile as a result of primary hypogonadism due to damage to the seminiferous tubules. On the other hand, sperm production can usually be stimulated to a level sufficient to restore fertility in men who are infertile as a result of secondary hypogonadism, ie, due to damage to the pituitary or hypothalamus. Men who have pituitary disease can be treated with gonadotropins, while those with hypothalamic disease can be treated with gonadotropins or gonadotropin-releasing hormone (GnRH). (See "Causes of secondary hypogonadism in males".)


Which patients are likely to respond?The diagnosis of secondary hypogonadism must be firmly established before therapy is begun, since only patients whose infertility is due to this disorder will respond. We recommend treatment with gonadotropins for most men who have secondary hypogonadism due to either hypothalamic or pituitary disease who wish to become fertile (see "Clinical features and diagnosis of male hypogonadism"). Gonadotropin treatment will not increase the sperm count in men who have idiopathic oligospermia, in which a subnormal sperm count is associated with a normal serum testosterone concentration [1].

Several factors enhance the likelihood that the sperm count will be increased, and increased sooner after gonadotropin administration:

Development of hypogonadism after puberty rather than before. In one study, as an example, all six men whose hypogonadism occurred postpubertally experienced an increase in total sperm count from less than one million to above 40 million per ejaculate when treated with human chorionic gonadotropin (hCG) (see 'Initial treatment: hCG' below). In comparison, only one of eight men whose hypogonadism occurred prepubertally (but without cryptorchidism) had a similar response [2].

Partial hypogonadism, rather than complete, as judged by testes that are not as small [3-6], and serum concentrations of follicle-stimulating hormone (FSH), inhibin B, and testosterone that are not as low [7].

Literature review current through:Oct 2017.|This topic last updated:Dec 16, 2015.

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Induction of fertility in men with secondary hypogonadism

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Menopausal Hormone Therapy Not Associated with Mortality …

By Amy Orciari Herman

Edited by David G. Fairchild, MD, MPH, and Lorenzo Di Francesco, MD, FACP, FHM

Menopausal hormone therapy does not put women at increased risk for death, according to long-term follow-up from the Women's Health Initiative (WHI) randomized trials published in JAMA.

In the WHI, nearly 17,000 postmenopausal women with a uterus were randomized to receive either daily conjugated equine estrogens (CEE) plus medroxyprogesterone acetate, or placebo. An additional 11,000 women who'd had a hysterectomy were randomized to CEE alone or placebo.

During 18 years' follow-up which included roughly 57 years of treatment and 1112 years of post-intervention follow-up 27% of the women died. Neither combination hormone therapy nor CEE alone was associated with all-cause mortality during the intervention or post-intervention phase. Findings were similar for cardiovascular and cancer mortality.

An editorialist calls the findings "compelling and reassuring." She concludes: "For women with troubling vasomotor symptoms, premature menopause, or early-onset osteoporosis, hormone therapy appears to be both safe and efficacious."

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Menopausal Hormone Therapy Not Associated with Mortality ...

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Turning Skin Cells Into Brain Cells – 06/28/2012

Johns Hopkins researchers, working with an international consortium, say they have generated stem cells from skin cells from a person with a severe, early-onset form of Huntingtons disease (HD), and turned them into neurons that degenerate just like those affected by the fatal inherited disorder.

By creating HD in a dish, the researchers say they have taken a major step forward in efforts to better understand what disables and kills the cells in people with HD, and to test the effects of potential drug therapies on cells that are otherwise locked deep in the brain.

Although the autosomal dominant gene mutation responsible for HD was identified in 1993, there is no cure. No treatments are available even to slow its progression.

The research, published in the journal Cell Stem Cell, is the work of a Huntingtons Disease iPSC Consortium, including scientists from the Johns Hopkins University School of Medicine in Baltimore, Cedars-Sinai Medical Center in Los Angeles and the University of California, Irvine, as well as six other groups. The consortium studied several other HD cell lines and control cell lines in order to make sure results were consistent and reproducible in different labs.

The general midlife onset and progressive brain damage of HD are especially cruel, slowly causing jerky, twitch-like movements, lack of muscle control, psychiatric disorders and dementia, and eventually death. In some cases (as in the patient who donated the material for the cells made at Johns Hopkins), the disease can strike earlier, even in childhood.

Having these cells will allow us to screen for therapeutics in a way we havent been able to before in Huntingtons disease, says Christopher A. Ross, M.D., Ph.D., a professor of psychiatry and behavioral sciences, neurology, pharmacology and neuroscience at the Johns Hopkins University School of Medicine and one of the studys lead researchers. For the first time, we will be able to study how drugs work on human HD neurons and hopefully take those findings directly to the clinic.

Ross and his team, as well as other collaborators at Johns Hopkins and Emory University, are already testing small molecules for the ability to block HD iPSC degeneration. These small molecules have the potential to be developed into novel drugs for HD.

The ability to generate from stem cells the same neurons found in Huntingtons disease may also have implications for similar research in other neurodegenerative diseases such as Alzheimers and Parkinsons.

To conduct their experiment, Ross took a skin biopsy from a patient with very early onset HD. When seen by Ross at the HD Center at Hopkins, the patient was just seven years old. She had a very severe form of the disease, which rarely appears in childhood, and of the mutation that causes it. Using cells from a patient with a more rapidly progressing form of the disease gave Ross team the best tools with which to replicate HD in a way that is applicable to patients with all forms of HD.

Her skin cells were grown in culture and then reprogrammed by the lab of Hongjun Song, Ph.D., a professor at Johns Hopkins Institute for Cell Engineering, into induced pluripotent stem cells. A second cell line was generated in an identical fashion in Dr. Rosss lab from someone without HD. Simultaneously, other HD and control iPS cell lines were generated as part of the NINDS funded HD iPS cell consortium.

Scientists at Johns Hopkins and other consortium labs converted those cells into generic neurons and then into medium spiny neurons, a process that took three months. What they found was that the medium spiny neurons deriving from HD cells behaved just as they expected medium spiny neurons from an HD patient would. They showed rapid degeneration when cultured in the lab using basic culture medium without extensive supporting nutrients. By contrast, control cell lines did not show neuronal degeneration.

These HD cells acted just as we were hoping, says Ross, director of the Baltimore Huntington's Disease Center. A lot of people said, Youll never be able to get a model in a dish of a human neurodegenerative disease like this. Now, we have them where we can really study and manipulate them, and try to cure them of this horrible disease. The fact that we are able to do this at all still amazes us.

Specifically, the damage caused by HD is due to a mutation in the huntingtin gene (HTT), which leads to the production of an abnormal and toxic version of the huntingtin protein. Although all of the cells in a person with HD contain the mutation, HD mainly targets the medium spiny neurons in the striatum, part of the brains basal ganglia that coordinates movement, thought and emotion. The ability to work directly with human medium spiny neurons is the best way, researchers believe, to determine why these specific cells are susceptible to cell stress and degeneration and, in turn, to help find a way to halt progression of HD.

Much HD research is conducted in mice. And while mouse models have been helpful in understanding some aspects of the disease, researchers say nothing compares with being able to study actual human neurons affected by HD.

For years, scientists have been excited about the prospect of making breakthroughs in curing disease through the use of stem cells, which have the remarkable potential to develop into many different cell types. In the form of embryonic stem cells, they do so naturally during gestation and early life. In recent years, researchers have been able to produce induced pluripotent stem cells (iPSCs), which are adult cells (like the skin cells used in Rosss experiments) that have been genetically reprogrammed back to the most primitive state. In this state, under the right circumstances, they can then develop into most or all of the 200 cell types in the human body.

The other members of the research consortium include the University of Wisconsin School of Medicine, Massachusetts General Hospital and Harvard Medical School, the University of California, San Francisco, Cardiff University the Universita degli Studi diMilano and the CHDI Foundation.

Primary support for this research came from an American Recovery and Reinvestment Act (ARRA) grant (RC2-NS069422) from the National Institutes of Healths National Institute of Neurological Disorders and Stroke and a grant from the CHDI Foundation, Inc.

Other Johns Hopkins researchers involved in this study include Sergey Akimov, Ph.D.; Nicolas Arbez, Ph.D.; Tarja Juopperi, D.V.M., Ph.D.; Tamara Ratovitski; Jason H. Chiang; Woon Roung Kim; Eka Chighladze, M.S., M.B.A.; Chun Zhong; Georgia Makri; Robert N. Cole; Russell L. Margolis, M.D.; and Guoli Ming, M.D., Ph.D.

Turning Skin Cells Into Brain Cells - 06/28/2012

Recommendation and review posted by simmons