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Genetic Testing UNM Comprehensive Cancer Center

Overview

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

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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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Hypogonadism | definition of hypogonadism by Medical dictionary

Definition

Hypogonadism is the condition more prevalent in males in which the production of sex hormones and germ cells are inadequate.

Gonads are the organs of sexual differentiationin the female, they are ovaries; in the male, the testes. Along with producing eggs and sperm, they produce sex hormones that generate all the differences between men and women. If they produce too little sex hormone, then either the growth of the sexual organs or their function is impaired.

The gonads are not independent in their function, however. They are closely controlled by the pituitary gland. The pituitary hormones are the same for males and females, but the gonadal hormones are different. Men produce mostly androgens, and women produce mostly estrogens. These two hormones regulate the development of the embryo, determining whether it is a male or a female. They also direct the adolescent maturation of sex organs into their adult form. Further, they sustain those organs and their function throughout the reproductive years. The effects of estrogen reach beyond that to sustain bone strength and protect the cardiovascular system from degenerative disease.

Hormones can be inadequate during or after each stage of developmentembryonic and adolescent. During each stage, inadequate hormone stimulation will prevent normal development. After each stage, a decrease in hormone stimulation will result in failed function and perhaps some shrinkage. The organs affected principally by sex hormones are the male and female genitals, both internal and external, and the female breasts. Body hair, fat deposition, bone and muscle growth, and some brain functions are also influenced.

Sex is determined at the moment of conception by sex chromosomes. Females have two X chromosomes, while males have one X and one Y chromosome. If the male sperm with the Y chromosome fertilizes an egg, the baby will be male. This is true throughout the animal kingdom. Genetic defects sometimes result in changes in the chromosomes. If sex chromosomes are involved, there is a change in the development of sexual characteristics.

Female is the default sex of the embryo, so most of the sex organ deficits at birth occur in boys. Some, but not all, are due to inadequate androgen stimulation. The penis may be small, the testicles undescended (cryptorchidism) or various degrees of “feminization” of the genitals may be present.

Besides the tissue changes generated by hormone stimulation, the only other symptoms relate to sexual desire and function. Libido is enhanced by testosterone, and male sexual performance requires androgens. The role of female hormones in female sexual activity is less clear, although hormones strengthen tissues and promote healthy secretions, facilitating sexual activity.

Presently, there are accurate blood tests for most of the hormones in the body, including those from the pituitary and even some from the hypothalamus. Chromosomes can be analyzed, and gonads can, but rarely are, biopsied.

Replacement of missing body chemicals is much easier than suppressing excesses. Estrogen replacement is recommended for nearly all women after menopause for its many beneficial effects. Estrogen can be taken by mouth, injection, or skin patch. It is strongly recommended that the other female hormone, progesterone, be taken as well, because it prevents overgrowth of uterine lining and uterine cancer. Testosterone replacement is available for males who are deficient.

Carr, Bruce R., and Karen D. Bradshaw. “Disorders of the Ovary and Female Reproductive Tract.” In Harrison’s Principles of Internal Medicine, edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998.

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Hypogonadism | definition of hypogonadism by Medical dictionary

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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:

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Cardiac Stem Cells – Cedars-Sinai

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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 kayleenschreiber.com

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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Cell Replacement Therapy For Parkinsons Disease And The …

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*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

2 variantsinthe SERPINA1 gene;relevant for European descent

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

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bone marrow/stem cell transplant – verywell.com

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.

Sources:

American Society of Clinical Oncology. Cancer.Net. What is a Stem Cell Transplant (Bone Marrow Transplant)? Updated 01/16. http://www.cancer.net/navigating-cancer-care/how-cancer-treated/bone-marrowstem-cell-transplantation/what-stem-cell-transplant-bone-marrow-transplant

U.S. National Library of Medicine. MedlinePlus. Bone Marrow Transplant. Updated 10/03/17. https://medlineplus.gov/ency/article/003009.htm

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bone marrow/stem cell transplant – verywell.com

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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

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Induction of fertility in men with secondary hypogonadism

INTRODUCTION

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”.)

PRETREATMENT EVALUATION

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.

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

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CRISPR gene editing gets new tools, and acronyms

The acronyms might not be quite as catchy as CRISPR, but what new genetic tools dubbed REPAIR and ABE lack in whimsy they promise to make up in utility. These advances, unveiled last week, solve two of the problems hobbling CRISPR, the revolutionary genome-editing technique: that its idea of editing is often like 1,000 monkeys editing a Word document, and that making permanent changes to DNA might not be the best approach.

Together, the discoveries, described in separate studies, show that five years after scientists demonstrated that CRISPR can edit DNA, bioengineers are still racing to develop the most efficient, precise, versatile and therefore lucrative genome-editing tools possible.

One reason these are so exciting is, they show the CRISPR toolbox is still growing, said chemical engineer Gene Yeo of the University of California San Diego. There are going to be a lot more, and its not going to stop anytime soon. His lab has been working on one of the CRISPR advances but was not involved in either of the two new studies; its personally frustrating to get beaten, he added.

One discovery, led by biochemist David Liu of Harvard University, extends his 2016 invention of a way to change a single DNA letter, or base, on the 3-billion-letter-long human genome. Classic CRISPR cuts DNA with a molecular scissors and leaves the cell to repair the breach willy-nilly, introducing the problem of 1,000 monkeys editing away. In contrast, Lius base editor replaces the molecular scissors with something like a pencil wielded by an expert forger: It is an enzyme that literally rearranges atoms, cleanly and without collateral damage that the cell needs to fix.

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As in classic CRISPR, this version finds its way to a target on the genome via a molecule that acts like a bloodhound. Attached to the bloodhound is the atom-rearranger, which in Lius 2016 version turned the DNA letter G into A. Thousands of genetic diseases arise because a gene has a G where it should have an A, so the edit might one day treat or prevent them.

But other inherited disorders need different alphabetical magic. Thats what Liu, postdoctoral fellows Nicole Gaudelli and Alexis Komor, and their colleagues report in a paper in Nature: Their new ABE (adenine base editor) can turn A into G. Attached to CRISPRs bloodhound molecule, ABE works at virtually any target site in genomic DNA, Liu said.

In tests so far, it changed DNA in more of the lab-grown human cells that it was slipped into than standard CRISPR.

About half of the 32,000 known disease-causing, single-letter mutations have one of the misspellings that ABE can fix, Liu said. They include sickle cell, Tay-Sachs, and cystic fibrosis, raising hopes that ABE could be used to treat these diseases, or (in early embryos) prevent them. In tests of cells growing in lab dishes, ABE reversed the mutation that causes hereditary hemochromatosis in about 30 percent of the cells, and changed another gene into a form that prevents sickle cell disease even in people who have its disease-causing mutation.

As with all forms of CRISPR, before ABE helps any patients, scientists will have to test whether its safe and effective. But having the molecular machine is a good start, said Liu, a cofounder of the CRISPR company Editas Medicine Inc., based in Cambridge. He and his colleagues have filed for patents on ABE.

Harvard biologist George Church, who tied for first in the race to make CRISPR work in human cells, called base editing especially interesting. Changing a single DNA letter, he said, means fewer worries about the editing enzyme [in classic CRISPR] later going rogue or silent. He also expects that crops with a single base change will not be designated as transgenic, reducing regulatory barriers to commercialization.

In a separate study, CRISPR pioneer Feng Zhang of Cambridges Broad Institute discovered along with his colleagues a new version of CRISPR that can edit RNA, DNAs friskier cousin. While DNA mostly sits sedately in cells and issues orders to make proteins that keep life living, RNA zips around the cell carrying out those orders, and then disappears. That makes RNA a tantalizing target: By editing the errant orders (RNA) rather than their issuer (DNA), scientists might be able to make temporary, reversible genetic edits, rather than CRISPRs permanent ones.

Editing DNA is hard to reverse, but once you stop providing the RNA-editing system, the changes will disappear over time, said Zhang, also a cofounder of Editas. That might make it possible to treat conditions where you dont need a permanent edit, such as when the immune system is in overdrive and causing inflammation.

To create what Zhang and his colleagues call REPAIR (RNA editing for programmable A to I [G] replacement), they fused an enzyme that binds to RNA with one that changes the RNA letter A (adenosine) to inosine, a molecule similar to the RNA letter G (guanosine), they report in Science.

In tests on human cells growing in the lab, REPAIR corrected misspellings in the RNA that was made by disease-causing DNA in this case, Fanconi anemia, an inherited and devastating bone marrow disease, or nephrogenic diabetes insipidus, a serious inborn kidney disease.

The furious race to improve CRISPR, via ABE or REPAIR or whatever comes next, Church said, is a reminder of how far CRISPR is from precise genome-editing in humans.

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CRISPR gene editing gets new tools, and acronyms

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Is That What Love is? The Hostile Wife Phenomenon in …

by Michael G. Darwin, Chana de Wolf, and Aschwin de Wolf

Note: A PDF version of this article with images and appendixes is available here.

A Literal Death Sentence

One unpleasant issue in cryonics is the hostile wife phenomenon. The authors of this article know of a number of high profile cryonicists who need to hide their cryonics activities from their wives and ex-high profile cryonicists who had to choose between cryonics and their relationship. We also know of men who would like to make cryonics arrangements but have not been able to do so because of resistance from their wives or girlfriends. In such cases, the female partner can be described as nothing less than hostile toward cryonics. As a result, these men face certain death as a consequence of their partners hostility.

While it is not unusual for any two people to have differing points of view regarding cryonics, men are more interested in making cryonics arrangements. A recent membership update from the Alcor Life Extension Foundation reports that 667 males and 198 females have made cryonics arrangements. Although no formal data are available, it is common knowledge that a substantial number of these female cryonicists signed up after being persuaded by their husbands or boyfriends. For whatever reason, males are more interested in cryonics than females. These issues raise an obvious question: are women more hostile to cryonics than men?

There is no direct answer to this question since the requisite data have not been collected. However, both the gravity and magnitude of the problem, as we are about to detail, suggests this as a fertile, if not urgent, area for future research. One consequence of men being more interested in cryonics than women is that heterosexual men are more often faced with hostile wives and girlfriends than the other way round. While this may sound alarming, such disagreements can easily be overcome if the love and trust in a relationship is strong enough that the disagreeing party can still cede the right to make (and keep) cryonics arrangements to the other individual. However, even formerly amenable wives can become increasingly hostile, frequently in accordance with their husbands increasingly personal and active involvement in cryonics.

An Historical Overview

From its inception in 1964, cryonics has been known to frequently produce intense hostility from spouses who are not cryonicists. While this phenomenon, as previously noted, is mostly confined to hostility from wives or girlfriends, rather than husbands or boyfriends of cryonicists, there are exceptions. One of us (Darwin) knows of two divorces resulting from hostile husbands, and several cases where the husband has delivered an ultimatum to his wife to either cease involvement with cryonics or face dissolution of the marriage(1). An example of male spousal hostility to cryonics is the case of a pioneering female cryonicist who first signed up at the start of the cryonics movement in 1964 and who had a 30+ year history of intense cryonics activism, including serving as an Officer or Director of two early cryonics organizations. When she became incapacitated by Alzheimers disease, her husband, (who had long been unhappy with her involvement in cryonics) cancelled her cryonics and cryonics funding arrangements, and declined to allow her to be cryopreserved. Another co-author (Aschwin de Wolf) was involved in helping out in a situation where the ex-husband of a female friend would not approve cryonics arrangements for his minor children, despite a strong desire from the mother and the children to make such arrangements.

Dating this phenomenon to the earliest days of cryonics is not difficult. In 1968 Robert Ettinger, the father of the cryonics movement, wrote:

This is not a hobby or conversation piece: it is the principal activity of this phase of our lives; it is the struggle for survival. Drive a used car if the cost of a new one interferes. Divorce your wife if she will not cooperate. Save your money; get another job and save more money. Sometimes a fool will blunder through, but dont count on it. The universe has no malice, but neither has it mercy, and a miss is as good as a mile.

It is notable, and by no means accidental, that Ettinger uses the words, Divorce your wife if she will not cooperate, as opposed to divorce your husband or the gender neutral divorce your spouse. Notwithstanding the few cases of hostile husbands or boyfriends, the phenomenon of the hostile spouse is almost exclusively a female phenomenon. There is no reason to be surprised about the fact that only one partner in a relationship has made cryonics arrangements. What needs explanation is why partners are actively hostile to the other partners cryonics arrangements or activities.

Over the 40 years of his active involvement, one of us (Darwin) has kept a log of the instances where, in his personal experience, hostile spouses or girlfriends have prevented, reduced or reversed the involvement of their male partner in cryonics. This list (see appendix) is restricted to situations where Darwin had direct knowledge of the conflict and was an Officer, Director or employee of the cryonics organization under whose auspices the incident took place. This log spans the years 1978 to 1986, an 8 year period. The motivating events for keeping such a log were the intense hostility he experienced from Diane Henderson, the wife of Curtis Henderson, then President of the Cryonics Society of New York (CSNY)) during visits he made to CSNY as a teenager. While this hostility was to cryonics in general, it had as its focus anyone perceived to be facilitating her husbands continued involvement in cryonics. The primary targets were thus Henderson, Darwin and the Vice President of CSNY Gillian Cummings (nee Beverly Greenburg). Curtis Henderson has stated that he believes this antipathy materially contributed to the death of Gillian Cummings in 1972:

Because the (Cryo-Span) facility was not heated and it was bitterly cold at night in the winter on Long Island, Beverly (Gillian) used to spend the night at my home in Sayville on the couch in the CSNY office. Dianes increasingly hostility to Beverly, and to anything or anyone involved in cryonics, put an end to that. A few days before Beverlys death the situation between Diane and I had reached a breaking point. She demanded that I cease involvement in cryonics and close the facility. When I refused, she took our son and went to stay at her mothers home. This is a hard thing to bear and the one thing I didnt want to do was to further antagonize Diane or provide any basis for claims of infidelity in the event she returned home and found Beverly in the house. So, that night I told Beverly she could not spend the night at 9 Holmes Court. Instead, she spent the night in the unheated facility. She was found dead the next day, her keys in her car ignition and the gas tank empty. She was in the habit of running the engine briefly in the closed storage bay to warm up the car enough so she could get back to sleep. She probably dozed off and left the engine running. The only things I can say about that incident is that it has left me with gnawing guilt and a great deal of anger. It was senseless; senseless and irrational.(2)

The second incident that influenced Darwin to keep this record was an experience he had during the start-up of the Indiana cryonics organization the Institute for Advanced Biological Studies (IABS). Desperate for competent and energetic members and administrators, both Darwin and IABS President Steve Bridge experienced intense frustration when two enthusiastic and talented young men withdrew from involvement in IABS and cryonics because of the extreme hostility to cryonics on the part of their wives. This was one of many such incidents, but these two were especially significant because they deprived the nascent cryonics organization of a skilled businessman and potential leader, and of a competent engineer who had assisted with the fabrication of perfusion and cool-down equipment.

While neither objective nor rigorously scientific, the results of Darwins log are nevertheless instructive. The results are summarized in Table 1 (see appendix).

The 91 people listed in this table include 3 whose deaths are directly attributable to hostility or active intervention on the part of women. This does not include the many instances since 1987 where wives, mothers, sisters, or female business partners have materially interfered with a patients cryopreservation(3) or actually caused the patient not to be cryopreserved or removed from cryopreservation(4). Nor does it reflect the doubtless many more cases where we had no idea that:

The wifes hostility/objections/commands/threats prevented the husband from inquiring in the first place.

The wifes hostility/objections/commands/threats prevented the husband from signing up but no one knew it.

The wifes hostility/objections/commands/threats prevented the husband who was a member from volunteering, attending meetings, or otherwise becoming more involved, including standing for directorship positions and participating in research.

The wifes hostility/objections/commands/threats resulted in lapse of membership.

Prospective patients did not inquire because they knew the wifes hostility/objections/commands/threats would cause loss of support, emotional turmoil, or make signing up futile.

Potential members and patients did not sign up because they were lied to by their female spouses about some important aspect of cryonics.

Why are Women Disproportionately Hostile to Cryonics?

The most immediate and straightforward reasons posited for the hostility of women to cryonics are financial. When the partner with cryonics arrangements dies, life insurance and inheritance funds will go to the cryonics organization instead of to the partner or their children. Some nasty battles have been fought over the inheritance of cryonics patients, including attempts of family members to delay informing the cryonics organization that the member had died, if an attempt was made at alll(5). On average, women live longer than men and can have a financial interest in their husbands forgoing cryonics arrangements. Many women also cite the social injustice of cryonics and profess to feel guilt and shame that their families money is being spent on a trivial, useless, and above all, selfish action when so many people who could be saved are dying of poverty and hunger now.

A more speculative reason is that cryonics can be seen to compete with having children or family life altogether. This argument posits that if death can be overcome by technological means, surrogate immortality in the form of reproducing genes becomes redundant. This argument could even explain why many cryonicists are single men (aside from the common sense observation that few women want to date the archetypical cryonics nerd).

Another reason, articulated by several religious female spouses of male cryonicists, is separation in the afterlife. This presumes not only that cryonics works, but that it results not merely in practical immortality, but in actual immortality; a state where death never occurs and the spouse survives an infinitely long time. This position also excludes the belief common to all sects of Christianity and Islam that temporal existence, even for the living, will end with the Second Coming of Jesus Christ or an imposed end to the Universe and time of judgment by Allah. Another, perhaps more credible, but unarguably more selfish, interpretation of this position is what one of us (Darwin) has termed post reanimation jealousy. When women with strong religious convictions who give separation in the afterlife as the reason they object to their husbands cryopreservation are closely questioned, it emerges that this is not, in fact, their primary concern. The concern that emerges from such discussion is that if cryonics is successful for the husband, he will not only resume living, he may well do so for a vast period of time during which he can reasonably be expected to form romantic attachments to other women, engage in purely sexual relationships or have sexual encounters with other women, or even marry another woman (or women), father children with them and start a new family. This prospect evokes obvious insecurity, jealousy and a nearly universal expression on the part of the wives that such a situation is unfair, wrong and unnatural. Interestingly, a few women who are neither religious nor believers in a metaphysical afterlife have voiced the same concerns. The message here may be If Ive got to die then youve got to die too! As La Rochefoucauld famously said, with a different meaning in mind, Jealousy is always born with love, but does not always die with it.

Getting More Specific

While these arguments may plausibly address the hostility so many women feel toward their husbands cryopreservation arrangements, they do not address the much more common and more immediate negative reaction women typically display to even the prospect of their spouse or boyfriend becoming involved in cryonics. In such instances it could, of course, be argued that in reality these women are in fact objecting to the act of cryopreservation itself, since that is the logical outcome of their husbands involvement. The problem with this objection is that it fails to consider the reasons women often voice as being material to their hostility to cryonics. A shortlist of these objections is as follows:

o Fear of social ostracism: Involvement with cryonics is not commonplace in any society on the planet and any unusual, atypical or nonconformist behaviour carries with it the risk of reduction in social status, gossip, doubts about good judgment and rationality, and in the worst case, ridicule and ostracism.

o Embarrassment and inadequacy: Even if there is no discernible negative social impact, the fact that her husband is involved with cryonics, or worse still, signed up for neuro-cryopreservation, is frequently perceived as a source of profound embarrassment. Many women are uncomfortable being singled out or made the center of attention because of nonconformist behaviour on the part of any member of their family whose behaviour they perceive they may be held accountable for. A closely related concern is that they will be put in the position of having to both explain and justify their husbands unconventional choice. Such explanations and justifications are often correctly perceived to require considerable understanding of the premises, underlying scientific arguments, and most troubling, a detailed explication of the biomedical procedures used to induce cryopreservation as well as the physical and financial aspects of long term cryogenic care. This leaves out the even more daunting mastery of the scientific, technological, social and philosophical arguments that address the issue of reanimation and reintegration of cryonics patients into society. Also unaddressed are the thorny issues of the theological and ethical issues cryonics raises.

o Resource drain: Women understand that their husbands and boyfriends have interests, hobbies and avocations which are not a part of their romantic or even day-to-day relationship. Preoccupation with sports, automobiles, fishing, boating, golfing, or costly or dangerous pursuits, such as scuba diving or sky diving are frequently sources of friction in marriages. These activities inevitably result in a drain of both time and money spent with the wife and children time and money that could clearly be spent improving the quality and quantity of martial life, as well as providing assets for education of the children and additional savings to serve as a reserve in hard economic times, or times of family crisis.

o The prospect of homosocial or ideologically-driven alienation: Many, if not most, women object to exclusively or strongly homosocial activity on the part of their spouses. The social structure in most of the world today is predominately homosocial, wherein heterosexual men engage heavily or even almost exclusively in social (not sexual) interaction with other men. In these societies women are excluded from discussion of ideas, politics, business, current events, and usually religion. Until the mid-20th Century the social fabric of the U.S. and Europe was predominately homosocial with women retiring to a separate area of the home while men discussed politics, philosophy, the arts and sciences, and other non-domestic issues. Heterosexual men, past and present, also like to engage in exclusively homosocial activities ranging from the informal boys night out to more structured ventures such as camping, hunting and participation in male-only fraternal organizations. That these activities can and do lead some men to spend large fractions of their non-working time involved in such activities is a well known and wholly justified source of concern to women. After even glancing contact with cryonics, women quickly perceive that cryonics, and particularly activist cryonics, is populated almost exclusively by men and therefore represents a homosocial threat. It should also be noted that after men marry it is typical that much or even all of their socializing with their single male friends stops.

An even more anxiety provoking prospect is that of ideological alienation of the husband from his wife and family. Regardless of whether or not cryonics is perceived as a cult, it is justifiably understood to embrace a world view and a value system that is radically different from both the social norm and from the philosophical and ideological perspective of the wife or that which the husband and wife shared before cryonics was introduced into the equation. Wives often express anxiety and concern that their husbands may change drastically in both beliefs and behavior as a result of involvement with cryonics and that this might result in alienation within the marriage or even divorce.

o Religious and childrearing concerns: Most people of faith, regardless of gender, will have questions over the compatibility of cryonics and religion, at least when they first seriously contemplate the idea. To the deeply religious, absent a clear statement from the understood authority in their faith (the Pope, minister or church council, rabbi, or one of the hojjatoleslam in Islam) cryonics may be the source of lasting anxiety and uncertainty about whether it really is compatible with their faith. Even absent concerns about the religious acceptability of cryonics per se, there are often concerns about its impact on the religiosity and adherence to cultural values on the part of the children. The majority of observant Jews in both the U.S. and Israel are agnostic or atheist, but still highly value and consider critical to their survival and identity observance of Jewish cultural practices and rituals. Cryonics is often perceived as contrary to or corrosive of these values and practices.

o Other women: While cryonics is mostly a male pursuit, there are women involved and active, and many of them are single. Wives (or girlfriends) justifiably worry that another woman who shares their husbands enthusiasm for cryonics, shares his newly acquired world view and offers the prospect of a truly durable relationship one that may last for centuries or millennia may win their husbands affections. This is by no means a theoretical fear because this has happened a number of times over the years in cryonics. Perhaps the first and most publicly acknowledged instance of this was the divorce of Fred Chamberlain from his wife (and separation from his two children) and the break-up of the long-term relationship between Linda McClintock (nee Linda Chamberlain) and her long-time significant other as a result of Fred and Linda working together on a committee to organize the Third National Conference On Cryonics (sponsored the Cryonics Society of California).

The Underlying Reason?

While few would argue that there are not large, statistically demonstrable differences between men and women in terms of temperament, exploratory and risk taking behaviour as well as religiosity and intellectual and recreational pursuits, there is intense controversy as to whether these differences are due to biology, or to cultural and social factors that both limit and warp womens innate intellectual and behavioral parity with men. Regardless of whether these observed differences are rooted in nature or nurture, biology or culture, they are certainly real and they have had enormous impact on society and on the dynamic between men and women.

In his remarkable book, Human Accomplishment: The Pursuit of Excellence in the Arts and Sciences, 800 BC to 1950 (HarperCollins, New York, 2003, ISBN 0-06-019247-X) Charles Murray evaluates the origin and the creators of human artistic, scientific, technological and intellectual accomplishments over the span of what is essentially recorded history. Murray does this using the arguably objective procedure of calculating the amount of space allocated to these individuals in reference works, peer reviewed publications and other easily objectifiable measures of intellectual significance. Murray uses the well developed and widely accepted technique of historiometry, which is the historical study of human progress or individual personal characteristics, using statistics to analyze references to famous people and their discoveries in relatively neutral texts. Historiometery traces its origins to the work of Adolphe Quetelet, a 19th Century Belgian mathematician, who primarily studied the relationship between age and intellectual or artistic achievement.

Murray found that nearly all scientific progress, and all important scientific and artistic ideas, were made by white Europeans or their descendants (such as white Americans, Australians, Canadians, and New Zealanders). With few exceptions these core innovators were also male.

A number of studies have evaluated risk-taking behavior in males as contrasted with females. These studies have predominately concluded that men are not only bigger risk-takers, but that they engage in much more dangerous risk taking(7). An elegant and objective evaluation of sex-related differences in the selection of a successful strategy when facing novelty is the work of Catherine Brandner, who used a simple visuo-spatial task to investigate exploratory behavior as a specific response to novelty. Brandner found that strategies used by women and men to solve an exploratory task that may be seen as involving a trading off of risk versus reward differed markedly by gender. Brandner concludes: This study has first shown that the searching strategies used by women and men to solve an exploratory task that may be seen as involving trading off of risk and reward differed according to sex. Women adopted a local searching strategy in which the metric distance between what is already known and what is unknown was reduced. Men adopted a global strategy based on an approximately uniform distribution of choices. These findings appear to be compatible with a female frame of mind expressing careful consideration of all circumstances and possible consequences before making a decision.

Unquestionably, cryonics can be classified as risk-taking activity and exploratory behavior (one-way time travel to the future!) and it is also dependent upon a global approach to problem solving as opposed to the more meticulous and incremental approach to problem solving favored by women. Cryonics also demands paradigm changing innovative thinking that is closely allied with, if not identical to, the kinds of scientific, artistic and cultural thought that Murray has demonstrated are almost exclusively the province of males, and white males at that (which also raises the issue of why so few people of color are involved in cryonics). Perhaps it is these fundamental differences between men and women that determine not only male preference for, and general lack of hostility to, cryonics (at least as regards spouses and other immediate family members choices), but also the existence of a subgroup of women who are virulently opposed to cryonics, or more accurately, to the involvement of their husbands in cryonics.

Conclusion

Although the hostility of some women to their partners cryonics arrangements and activism is disturbing, the phenomenon is real. One high profile cryonicist once said: You can get another wife, but you cant get another life. Such words of wisdom need to be heeded, but it is understandable that some cryonicists need to make a trade-off between cryonics and other values. Hopefully, the forgoing analysis will offer some concrete areas of potential conflict, perceived or real, that can be addressed by both emotional reassurance and reason. Identifying the problems is certainly a necessary first step to resolving them.

Endnotes

1. Brenda Peters, a long-time female cryonics activist, Alcor Board member and Founding President of CryoCare was married to a Hollywood screenwriter and producer and has stated, while by no means the sole reason for dissolution of her marriage, cryonics played an important role in the breakup. Former Alcor Treasurer and stalwart cryonicist Sherry Cosgrove faced a similar ultimatum in 1987 and chose to cease active involvement in cryonics and revoke her cryopreservation arrangements.

2. Interview of Curtis Henderson by Mike Darwin, 22 November, 2007, Ash Fork, AZ.

3. Alcor patient A-1036 suffered ~10 minutes of ischemic injury without cardiopulmonary support due to interference from his sister and female business partner. A-1049 suffered ~30 minutes of ischemic injury due to interference from his mother and sister.

4. Alcor patient A-1242 was removed from cryopreservation under court order as a result of litigation brought against Alcor and the patients husband by the patients sister, who objected to cryopreservation. Alcor patient A-2127 died while in the sign up process due to hostile female relatives. Alcor patient A-1099 suffered prolonged ischemia, embalming and straight freezing and was almost cremated due to the non-compliance of his sisters with his cryonics arrangements.

5. Alcor patient A-1242 was removed from cryopreservation under court order as a result of litigation brought against Alcor and the patients husband by the patients sister, who objected to cryopreservation. Alcor patient A-2127 died while in the sign up process due to hostile female relatives. Alcor patient A-1099 suffered prolonged ischemia, embalming and straight freezing and was almost cremated due to the non-compliance of his sisters with his cryonics arrangements.

6. http://www.lifepact.com/history.htm

7. Pyszczynski, Tom L. (Feb. 2002) Gender differences in the willingness to engage in risky behavior: A terror management perspective. Death Studies, 26, 117-142.

Risk taking influenced by sense of control, claims US psychology professor. (Nov. 2001). http://www.psycport.com retrieved on Oct. 10, 2002.

Wagner, Mervyn K. (Jan./Feb. 2001). Behavioral characteristics related to substance abuse and risk-taking, sensation- seeking, anxiety sensitivity and self-reinforcement. Addictive Behaviors, 26, 115-120.

8. Brandnery, C Strategy selection during exploratory behavior: sex differences Judgment and Decision Making. Vol. 2, No. 5, October 2007, pp. 326332.

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Amid GMO Strife, Food Industry Vies For Public Trust In …

Scientists have used a popular gene editing tool called CRISPR to snip out a tiny piece of DNA from one particular gene in a white button mushroom. The resulting mushroom doesn’t brown when cut. Adam Fagen/Flickr hide caption

Scientists have used a popular gene editing tool called CRISPR to snip out a tiny piece of DNA from one particular gene in a white button mushroom. The resulting mushroom doesn’t brown when cut.

There’s a genetic technology that scientists are eager to apply to food, touting its possibilities for things like mushrooms that don’t brown and pigs that are resistant to deadly diseases.

And food industry groups, still reeling from widespread protests against genetically engineered corn and soybeans (aka GMOs) that have made it difficult to get genetically engineered food to grocery store shelves, are looking to influence public opinion.

The technology is called Clustered Regularly Interspaced Short Palindromic Repeats, or CRISPR. It’s a technique that Alison Van Eenennaam, an animal genetics professor at University of California, Davis, says can de-activate a gene. Or, as she puts it: “It’s editing. It’s like going into a Word document and basically replacing one letter, maybe that instead of ‘wind,’ you want it to say ‘wine,’ ” she says.

Skeptics, like Dana Perls with the environmental group Friends of the Earth, say food companies are trying to distance themselves from terms like GMO and genetic engineering that have caused them trouble with consumers.

“These new gene editing technologies like CRISPR are genetic engineering. And if this is genetic engineering, then call it that,” says Perls. She says these producers are just trying to pull the wool over consumers’ eyes with a strong public relations push.

Dozens of crops and livestock developed with CRISPR technology are years from the market, though the U.S. Department of Agriculture already said it won’t regulate CRISPR-developed products like other genetically engineered food, since no foreign genetic material is introduced in the process. The Food and Drug Administration will decide which new products are safe.

To get ahead of any criticism, a group of heavyweights in the food industry have joined forces to form the Coalition for Responsible Gene Editing in Agriculture, which is funded by members like the U.S. Pork Board, Monsanto, Syngenta and Bayer.

The board’s CEO, Bill Even, says the food industry missed a chance to do this when the earlier wave of genetically engineered food made it to the market.

“There was never any conversation with consumers around what is this and what did it mean,” he says. “Fast forward now today, there’s a lot of debate around GMOs and food. The public rightly [is] … interested in knowing what’s in their food.”

People don’t often trust big companies, says Charlie Arnot, who leads the coalition and is the CEO of the Center for Food Integrity. But when it comes to CRISPR, there are three key strategies Arnot says will help get consumers on board.

First: CRISPR is not a secret.

“Those in technology have to be more transparent and be much more engaged in a public conversation and dialogue, in order to answer those questions, address the skepticism and ultimately result in earning consumer trust in what they’re doing in gene editing,” he says.

Second, the coalition wants to show that it shares the same values that shoppers do. So, its members are sponsoring and attending events like CRISPRcon to engage in public discussions about the technology and its potential animal welfare, societal and environmental benefits.

“If people trust you, science doesn’t matter. If people don’t trust you, science doesn’t matter,” Arnot says. “It only matters after you cross that trust threshold. So you really have to engage in that values-based dialogue to build trust, and then you’re given the permission to introduce the science.”

And that’s the third strategy: These companies want consumers to know that CRISPR isn’t like other forms of genetic engineering. CRISPR changes the way genes are expressed; it doesn’t necessarily add genetic material from another species, although it can be used that way.

“That’s going to be the path that will ultimately lead to greater trust,” Arnot says. “If we shortcut that path, we run the risk of potentially having this significantly beneficial technology not be accepted.”

But persuading consumers to buy into CRISPR will be an uphill battle for Arnot and other industry groups. Food and environmental advocacy groups already are asking questions about CRISPR, as well as raising concerns over tracing genetically edited food in the system and the potential lack of regulatory oversight.

This story comes to us from Harvest Public Media, a reporting collaboration that focuses on agriculture and food production. Kristofor Husted is based at member station KBIA in Columbia, Mo.

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CRISPR Bacon: Chinese Scientists Create Genetically Modified …

Scientists have used a new gene-editing technique to create pigs that can keep their bodies warmer, burning more fat to produce leaner meat. Infrared pictures of 6-month-old pigs taken at zero, two, and four hours after cold exposure show that the pigs’ thermoregulation was improved after insertion of the new gene. The modified pigs are on the right side of the images. Zheng et al. / PNAS hide caption

Scientists have used a new gene-editing technique to create pigs that can keep their bodies warmer, burning more fat to produce leaner meat. Infrared pictures of 6-month-old pigs taken at zero, two, and four hours after cold exposure show that the pigs’ thermoregulation was improved after insertion of the new gene. The modified pigs are on the right side of the images.

Here’s something that may sound like a contradiction in terms: low-fat pigs.

But that’s exactly what Chinese scientists have created using new genetic engineering techniques.

In a paper published Monday in the Proceedings of the National Academy of Sciences, the scientists report that they have created 12 healthy pigs with about 24 percent less body fat than normal pigs.

The scientists created low-fat pigs in the hopes of providing pig farmers with animals that would be less expensive to raise and would suffer less in cold weather.

“This is a big issue for the pig industry,” says Jianguo Zhao of the Institute of Zoology at the Chinese Academy of Sciences in Beijing, who led the research. “It’s pretty exciting.”

The genetically modified low-fat piglets Jianguo Zhao hide caption

The animals have less body fat because they have a gene that allows them to regulate their body temperatures better by burning fat. That could save farmers millions of dollars in heating and feeding costs, as well as prevent millions of piglets from suffering and dying in cold weather.

“They could maintain their body temperature much better, which means that they could survive better in the cold weather,” Zhao said in an interview.

Other researchers call the advance significant.

“This is a paper that is technologically quite important,” says R. Michael Roberts, a professor in the department of animal sciences at the University of Missouri, who edited the paper for the scientific journal. “It demonstrates a way that you can improve the welfare of animals at the same as also improving the product from those animals the meat.”

But Roberts doubts the Food and Drug Administration would approve a genetically modified pig for sale in the United States. He’s also skeptical that Americans would eat GMO pig meat.

“I very much doubt that this particular pig will ever be imported into the USA one thing and secondly, whether it would ever be allowed to enter the food chain,” he says.

The FDA has approved a genetically modified salmon, but the approval took decades and has been met with intense opposition from environmental and food-safety groups.

Others say they hope genetically modified livestock will eventually become more acceptable to regulators and the public.

“The population of our planet is predicted to reach about 10 billion by 2050, and we need to use modern genetic approaches to help us increase the food supply to feed that growing population,” says Chris Davies, an associate professor in the school of veterinary medicine at Utah State University in Logan, Utah.

Zhao says he doubts the genetic modification would affect the taste of meat from the pigs.

“Since the pig breed we used in this study is famous for the meat quality, we assumed that the genetic modifications will not affect the taste of the meat,” he wrote in an email.

The Chinese scientists created the animals using a new gene-editing technique known as CRISPR-Cas9. It enables scientists to make changes in DNA much more easily and precisely than ever before.

Pigs lack a gene, called UCP1, which most other mammals have. The gene helps animals regulate their body temperatures in cold temperatures. The scientists edited a mouse version of the gene into pig cells. They then used those cells to create more than 2,553 cloned pig embryos.

Next, scientists implanted the genetically modified cloned pig embryos into 13 female pigs. Three of the female surrogate mother pigs became pregnant, producing 12 male piglets, the researchers report.

Tests on the piglets showed they were much better at regulating their body temperatures than normal pigs. They also had about 24 percent less fat on their bodies, the researchers report.

“People like to eat the pork with less fat but higher lean meat,” Zhao says.

The animals were slaughtered when they were six months old so scientists could analyze their bodies. They seemed perfectly healthy and normal, Zhao says. At least one male even mated, producing healthy offspring, he says.

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CRISPR toolbox gets two new molecular gadgets, boosting gene …

T

he acronyms might not be quite as catchy as CRISPR since, really, what is? but what new genetic tools dubbed REPAIR and ABE lack in whimsy they promise to make up in utility. These advances announced Wednesday solve two of the problems hobbling CRISPR, the revolutionary genome-editing technique: that its idea of editing is often like 1,000 monkeys editing a Word document, and that making permanent changes to DNA might not be the best approach.

Together, the discoveries, described in separate studies, show that five years after scientists demonstratedthat CRISPR can edit DNA, bioengineers are still racing to develop the most efficient, precise, versatile and therefore lucrative genome-editing tools possible.

One reason these are so exciting is, they show the CRISPR toolbox is still growing, said chemical engineer Gene Yeo of the University of California, San Diego. There are going to be a lot more, and its not going to stop anytime soon. His lab has been working on one of the CRISPR advances but was not involved in either of the two new studies its personally frustrating to get beaten, he added.

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One discovery, led by biochemist David Liu of Harvard University, extends his 2016 inventionof a way to change a single DNA letter, or base, on the 3-billion-letter-long human genome. Classic CRISPR cuts DNA with a molecular scissors and leaves the cell to repair the breach willy nilly, introducing the problem of 1,000 monkeys editing away. In contrast, Liusbase editor replaces the molecular scissors with something like a pencil wielded by an expert forger: It is an enzyme that literally rearranges atoms cleanly and without collateral damage that the cell needs to fix.

As in classic CRISPR, this version finds its way to a target on the genome via a molecule that acts like a bloodhound. Attached to the bloodhound is the atom-rearranger, which in Lius 2016 version turned the DNA letterG into A. Thousands of genetic diseases arise because a gene has a G where it should have an A,so the edit might one day treat or prevent them.

But other inherited disorders need different alphabetical magic. Thats what Liu, postdoctoral fellows Nicole Gaudelli and Alexis Komor, and their colleagues report in a paper in Nature: Their new ABE (adenine base editor) can turn A into G.Attached to CRISPRs bloodhound molecule, ABE works at virtually any target site in genomic DNA, Liu said.

In tests so far, it changed DNA in more of the lab-grown human cells thatit was slipped into than standard CRISPR (for all its fame, CRISPR often bungles the job). ABE also seems to make fewer off-target edits: In one test, it mistakenly hit four of the 12 off-target sites, compared to CRISPRs nine, and made that mistake in 1.3 percent of cases compared to 14 percent for CRISPR, Liu said.

About half of the 32,000 known disease-causing, single-letter mutations have one of the misspellings that ABE can fix, Liu said. They include sickle cell, Tay-Sachs, and cystic fibrosis, raising hopes that ABE could be used to treat these diseases, or (in early embryos) prevent them.In tests of cells growing in lab dishes, ABE reversed the mutation that causes hereditary hemochromatosis in about 30 percent of the cells, and changed another gene into a form that prevents sickle cell disease even in people who have its disease-causing mutation.

As with all forms of CRISPR, before ABE helps any patients, scientists will have to test whether its safe and effective. But having the molecular machine is a good start, said Liu, a co-founder of the CRISPR company Editas Medicine. He and colleagues have filed for patents on ABE.

Harvard biologist George Church, who tied for first in the race to make CRISPR work in human cells, called base editing especially interesting. Changing a single DNA letter, he said, means fewer worries about the editing enzyme [in classic CRISPR] later going rogue or silent. He also expects that crops with a single base change will not be designated as transgenic, reducing regulatory barriers to commercialization.

In a separate study, CRISPR pioneer Feng Zhang of the Broad Institute and his colleagues discovered a new version of CRISPR that can edit RNA, DNAs friskier cousin. While DNA mostly sits sedately in cells and issues orders to make proteins that keep life living, RNA zips around the cell carrying out those orders, and then disappears. That makes RNA a tantalizing target: By editing the errant orders (RNA) rather than their issuer (DNA), scientists might be able to make temporary, reversible genetic edits, rather than CRISPRs permanent ones.

Editing DNA is hard to reverse, but once you stop providing the RNA-editing system, the changes will disappear over time, said Zhang, also a co-founder of Editas. That might make it possible to treat conditions where you dont need a permanent edit, such as when the immune system is in overdrive and causing inflammation.

To create what Zhang and his colleagues call REPAIR (RNA editing for programmable A to I [G] replacement), they fused an enzyme that binds to RNA with one that changes the RNA letter A (adenosine) to inosine, a molecule similar tothe RNA letter G (guanosine), they report in Science.Other labs, including that of CRISPR developer Jennifer Doudna of the University of California, Berkeley, have also developed RNA editors, including one using the same Cas13 enzyme. But REPAIRs creators say theirs is more efficient and less error-prone.

In tests on human cells growing in the lab, REPAIR corrected misspellings in theRNA that was made by disease-causing DNA in this case, Fanconi anemia, an inherited and devastating bone marrow disease, or nephrogenic diabetes insipidus, a serious inborn kidney disease. Although the DNA still had its disease-causing mutations, 23 percent and 35 percent, respectively, of the RNA made by those defective genes was REPAIRed. Those levels might be high enough to treat the diseases. Some 5,800 inherited diseases are the result of the G-to-A glitch that REPAIR can fix, including epilepsy and Duchenne muscular dystrophy.

Both REPAIR and ABE might venture where CRISPR stumbles: in mature cells, like neurons, that dont divide. In unpublished research, Liu said, he and his team have shown that ABE can edit genes in neurons, raising the possibility of treating devastating neurological diseases with ABE.

The furious race to improve CRISPR, via ABE or REPAIR or whatever comes next, Church said, are potent reminders of how far CRISPR is from precise genome-editing in humans.

Senior Writer, Science and Discovery

Sharon covers science and discovery.

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CRISPR toolbox gets two new molecular gadgets, boosting gene …

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The Latest Guide to Understanding CRISPR-Cas9

The CRISPR Pill made headlines with its implications in the fight against Superbugs.

But CRISPR technology originated from research into gene splicing and genetic editing capabilities. Since DNA is the fundamental building block of existence, what CRISPR claims it can do is bold and a little terrifying.

What are the real-world applications and implications of this biotech?

The above image comes from a YouTube video produced by the McGovern Institute for Brain Research at MIT from 2014. You can see that it involves gene splicing. One of the faculty members, Feng Zhang, led a team of researchers at MIT on the project, but many groups have looked into CRISPR-Cas9 biotech.

As early as 1993, researcher Francisco Mojica of the University of Alicante in Spain tinkered with CRISPR. Fun fact: the CRISPR DNA sequenceandCas-9 enzyme are a naturally occurring defense mechanism in various bacteriamost notably the kind that causes strep throat.

Yeswe derived gene editing biotech from that pestering, cold weather (but also any time weather because its bacteria based) illness.

But dont worry: the CRISPR-Cas9 strand operates similarly to bacteriophages.

It repeats a series of the same DNA sequences with unique sequences peppered in. These clusters became known as clustered regularly interspaced short palindromic repeats.

Though Ruud Jansen first used the term CRISPR in 2002, Mojica adopted the initialization throughout his research in discovering that CRISPR is basically an adaptive immune system.

This led others to tinker with the bacteria-based defense mechanism, as well. In 2005, Alexander Bolotin of the French National Institute for Agricultural Research discovered the unusual Cas-9 protein displaying nuclease activity. He specifically noted it in the Streptococcus thermophilus bacteria as opposed to other bacteria. Bolotin also discovered a PAM(protospacer adjacent motif) which allows for target recognition.

From there, a plethora of scientists and researchers began to experiment with CRISPR and Cas-9 DNA sequences.

Knowing how something came to be is all fine and good, but exactly how does CRISPR work? Simple: it acts similarly to how viruses do when they attack organisms human or otherwise. Copies of the attacking virus DNA are made with temporary RNA. Then, these copies attach themselves to the attacked organism, forcing replication. This is how viruses infect things and its also how bacteriophages work, too.

Since researchers can now harness the power of CRISPR-Cas9 (bacterias own natural defense system against infection) many believe they can utilize this against antibiotic resistant strains of bacteria.

So, DNA has four amino-acid bases: adenine (A), thymine (T), guanine (G), and cytosine (C).

DNA will target any sequence acting a bit off to forego any potential damage. However, the CRISPR-Cas9 system operates differently since it can read 20 bases in any sequence. This elf-eyes-esque sight allows for better tailoring to a specific gene. There is even an online tool you can use to design a target sequence and how the RNA should interact with it.

While the implications of this are monstrous, the real world applications do meet with a few stumbling blocks. One such block: the fact that the enzymes sometimes cut at the wrong place. Clearly, when it comes to gene editing, you want to be able to hit your mark every time.

While the research into gene editing biotech has come a very long way, genetically engineered babies are still a bit further down the roador are they? Researchers in Portland, Oregon successfully edited a human embryo in 2017.

However, this falls under the category of germlinecells or reproductive cells. While the editing of somatic (or non-reproductive) cells is generally not controversial, editing reproductive cells raises several ethical dilemmas.

Despite this moral hang-up, use of CRISPR-Cas9 gene editing tech is already underwayeven in robotics. Transcriptics robotic lab added this biotech to its list of services in 2015 in hopes to save time and money in the gene editing process. China instigated human trials in 2016, and we dont even need to mention the implications regarding infectious diseases like Malaria.

We may have far to go with genetic editing and the fight against superbugs and viruses. But, we have taken very necessary and BIG first steps.

With how far genetics has come in the last 30 years, we have to wonder how advancements in robotics and biotech will propel things even further.

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The Latest Guide to Understanding CRISPR-Cas9

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Gene-editing tool CRISPR can now manipulate more types of …

Provided by The Verge

The powerful gene-editing tool CRISPR has been making headlines for its ability to edit DNA, which could one day transform how we fight cancer and other life-threatening diseases. Now, scientists have created a new version of CRISPR that can target and edit a different genetic building block: RNA.

The new tool, described in a study published today in Science, offers several advantages: its edits, for instance, arent permanent, which makes gene editing much safer. Researchers showed that the new system, called REPAIR, can work relatively efficiently in human cells. In the future, it could be used to treat diseases, as well as better understand the role that RNA plays in causing those diseases.

Its another tool in the toolbox.

Its another tool in the toolbox that we didnt have access to before, says Mitchell O’Connell, assistant professor in the Department of Biochemistry and Biophysics at the University of Rochester, who was not involved in the research. Its like developing new technology that makes you see things that you couldn’t see before, or tweak things that you couldn’t tweak.

The gene-editing tool CRISPR is based on a defense mechanism bacteria use to ward off viruses by cutting off bits of their DNA and pasting them elsewhere. Scientists have engineered that mechanism to tweak DNA, creating unusually muscular beagles, for instance, and mosquitoes that dont transmit malaria. But there are different types of CRISPR, with different types of molecular scissors. The gene-editing tool thats been making lots of headlines is called CRISPR-Cas9. The CRISPR used in todays study is called CRISPR-Cas13.

Instead of snipping DNA, this type of CRISPR targets another of the major biological molecules found in all forms of life, RNA. Most of the time, RNA is used inside the body to help DNA build proteins. And proteins play an important role in causing diseases. There are some advantages to editing RNA instead of DNA, says study co-author David Cox, a PhD student in the Zhang Lab at the Broad Institute of MIT and Harvard, which has been doing pioneering work on CRISPR. RNA is constantly being made and recycled inside cells, so an RNA edit is not permanent. (The edits could still be effective, though: the CRISPR system could be kept in cells for, say, months, allowing the scissors to keep editing RNA as it forms.) That makes the whole process safer. If you edit RNA and make a mistake, for instance, the faulty RNA will be degraded likely within 24 hours. Instead, if you edit DNA and make a mistake, that mistake is irreversible and could possible lead to cancer. Certain changes to DNA could also be passed on to future generations, while changes to RNA generally arent passed on.

there are still big risks involved.

Gene editing is very exciting, but there are still big risks involved, O’Connell tells The Verge. Targeting RNA rather than DNA is a safer strategy, particularly for things where you might not want to make permanent change.

To create the new editing tool, called REPAIR, the researchers combined CRISPR-Cas13 with a protein called ADAR. It works this way: the Cas13 enzyme is programmed to target a specific RNA sequence that might correspond to a disease mutation; the ADAR protein then makes the edit. In the study, the researchers showed that the system can edit specific RNA bases with 20 to 40 percent efficiency and up to 90 percent in some instances, says Cox. And the system made few mistakes: even though gene-editing tools are very precise, sometimes they snip pieces of genetic code they werent programmed to cut. These off-target cuts can be dangerous, and scientists want to make sure there are as few of them as possible.

A first version of REPAIR caused nearly 20,000 off-target cuts, says study co-author Omar Abudayyeh, also a PhD student in the Zhang Lab. That was a pretty disappointing moment, he tells The Verge. But then, the team tweaked the system in a way that reduced the number of off-target cuts to 10 to 20 per target site, making it much more precise and safe.

O’Connell says he was surprised by how well the system works. RNA has been targeted before in an effort to make drugs to treat disease, O’Connell says. But this CRISPR system makes the whole editing process much easier. In the future, this editing tool could be used to treat life-threatening diseases like hemophilia, as well as a heart condition called hypertrophic cardiomyopathy, which can lead to sudden death, Cox tells The Verge. Before that happens, the system needs to be optimized, and made much more precise. Researchers also need to show that it works in mice, other animals, and eventually in people. Its a long road to translate this into any sort of therapy, says study co-author Jonathan Gootenberg, another PhD student in the Zhang Lab.

You feel so empowered where youre in the lab.

Together with CRISPR-Cas9, this system really has the potential to revolutionize how we treat diseases. And thats the motivation that keeps Gootenberg, Cox, and Abudayyeh working hard in their lab. Abudayyeh says that when he was in med school, he met a woman with terminal lung cancer, who had maybe a few more months to live. You feel pretty hopeless in that situation because theres nothing you can do even as a doctor, he says. But thats also what inspired him to get into biotechnology.

You feel so empowered where youre in the lab, just thinking about new ways to make new technologies with the potential to hopefully actually help patients like that, Abudayyeh says. Its really exciting.

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Stem cell and bone marrow transplants – NHS Choices

A stem cell or bone marrow transplant replaces damaged blood cells with healthy ones. It can be used to treat conditions affecting the blood cells, such as leukaemia and lymphoma.

Stem cells arespecial cells produced bybone marrow (aspongytissue found in the centre of some bones) that can turn into different types of blood cells.

The three maintypes of blood cellthey can become are:

A stem cell transplant involves destroying any unhealthy blood cells and replacing them with stem cells removed from the blood or bone marrow.

Stem cell transplants are used to treat conditions in which the bone marrow is damaged and is no longer able to produce healthy blood cells.

Transplants can also be carried out to replace blood cells that are damaged or destroyed as a result of intensive cancer treatment.

Conditions that stem cell transplants can be used to treat include:

A stem cell transplant will usually only be carried out if other treatments haven’t helped, the potential benefits of a transplant outweigh the risks and you’re in relatively good health, despite your underlying condition.

A stem cell transplant can involve taking healthy stem cells from the blood or bone marrow of one person ideally a close family member with the same or similar tissue type (see below) and transferring them to another person. This is called an allogeneic transplant.

It’s also possible to remove stem cells from your own body and transplant them later, after any damaged or diseased cells have been removed. This is called an autologous transplant.

Astem celltransplant has five main stages. These are:

Having a stem cell transplant can be an intensive and challenging experience. You’ll usually need to stay in hospital fora month or more until the transplant starts to take effect and itcan takea year or two to fully recover.

Read more about what happens during a stem cell transplant.

Stem celltransplants arecomplicated procedures with significant risks. It’s important that you’re aware of both the risks and possible benefits before treatment begins.

Possible problems that can occur during or after the transplant process include:

Read more about the risks of having a stem cell transplant.

Ifit isn’t possible to use your own stem cells for the transplant (see above), stem cells will need to come from a donor.

To improve the chances ofthetransplant being successful, donated stem cells need tocarry a special genetic marker known as a human leukocyte antigen (HLA) that’sidentical or very similar to that of the person receiving the transplant.

The best chance of getting a match is from a brother or sister, or sometimes another close family member. If there are no matches in your close family,a search of theBritish Bone Marrow Registry will be carried out.

Most peoplewill eventually find a donor in the registry,although a small number of people may find it very hard or impossibleto find a suitable match.

The NHS Blood and Transplant website has more information about stem cell and bone marrow donation.

Page last reviewed: 08/10/2015

Next review due: 01/10/2018

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How CRISPR gene-editing tech can fight HIV – SFGate

Photo: LOREN ELLIOTT, Special To The Chronicle

A heat map illustrates how effectively mutated cells blocked HIV, in a UCSF lab.

A heat map illustrates how effectively mutated cells blocked HIV, in a UCSF lab.

How CRISPR gene-editing tech can fight HIV

Researchers at UCSF have received a three-year, $1.6 million grant to advance their work using novel gene-editing technology to make human blood cells less susceptible to HIV infection.

The grant, from biopharmaceutical giant Gilead Sciences, a global leader in sales of HIV treatments, will fund a team of scientists working to modify the DNA of a type of white blood cell to make them immune to HIV infection.

The cells, called T cells, have long been a focus of researchers seeking to improve HIV treatments. T cells help the immune system fight many diseases, including some cancers and flu viruses. They play a unique role in HIV because the virus targets and destroys T cells, and HIV-positive patients whose T cells become too depleted by the virus will progress to AIDS.

Using a gene-editing technique known as CRISPR, the UCSF researchers have already tested dozens of genes believed to play a role in how HIV spreads within the body. They do this by collecting blood samples from HIV-negative patients, altering the DNA of those cells, and then introducing the HIV virus to the modified cells in test tubes. Within two weeks, they can see whether the change to the gene has eliminated the cells ability to become infected with HIV.

CRISPR can be used to modify the DNA of plants, animals and other living organisms. It is considered a groundbreaking method because it is simpler and cheaper than other gene-editing techniques.

This is connecting CRISPR to HIV and opening up whole new avenues of research in understanding the interplay between human genetics and HIV, said Alex Marson, an assistant professor of microbiology and immunology at UCSF who leads the lab that received the Gilead grant.

The grant, announced this week, will allow Marsons lab to pursue an ambitious goal of uncovering why HIV remains dormant in some cells, only to awaken unpredictably, sometimes years later. Known as HIV latency, this characteristic of the virus is why HIV-positive patients must take antiretroviral drugs which are only effective in attacking the awake HIV for life.

The tricky thing about HIV, and one reason its so hard to cure, is that it can hide in the DNA of the human cells, said Joe Hiatt, a doctoral student of medicine and philosophy in Marsons lab and a leader in the research initiative. It becomes DNA and integrates into your DNA.

The problem has perplexed researchers for years. But Marson and Hiatt see potential for using CRISPR to discover which genes control HIV latency. They hope to use the gene-editing tool to create latent HIV cells in test tubes, and then modify the DNA in those cells to see which edits may coax the HIV out of hiding and make it susceptible to drugs. This will be the most challenging and complicated part of the research. If done successfully, it could lead to the development of drugs that target latent HIV and perhaps cure HIV permanently.

CRISPR technology is potentially revolutionary because HIV is a type of virus that will sneak its own genetic code into the genetic code of the human cell, said Ross Wilson, a scientist at UC Berkeleys Innovative Genomics Institute who is not involved in the grant. Its like hiding a book in a stack at the library, and the book has instructions to build a nasty bomb. To get rid of that information, you need to get it back out of the library. Weve never had the technology to do that inside the living cell until CRISPR came along. Its the first efficient way to do that inside living cells.

It is the first research initiative that Foster Citys Gilead, through its philanthropic program, has funded that involves using CRISPR as a tool in HIV cure-related research. While $1.6 million is not a huge amount, it comes with fewer restrictions than many government grants. The grant will fund a team of five researchers for three years.

It is one of five grants totaling $7.5 million, announced this week, that Gilead has awarded research institutions for HIV and AIDS-related initiatives. The others are to the University of Massachusetts Medical School; Dana-Farber Cancer Institute; Institute of Human Genetics, French National Center for Scientific Research and University of Montpellier; and Frederick National Laboratory for Cancer Research, AIDS and Cancer Virus Program.

A Gilead spokesman said that if the UCSF researchers discover how latent HIV can be targeted by drugs, the company will not necessarily have rights to licensing agreements or other commercial benefits. The grant is from the companys philanthropy program and is meant to support HIV research independent of Gileads business interests, he said.

Catherine Ho is a San Francisco Chronicle staff writer. Email: cho@sfchronicle.com Twitter: @Cat_Ho

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Video stored in live bacterial genome using CRISPR gene …

Photos from Eadweard Muybridges study of a galloping horse have been recorded in bacterial DNA

Eadweard Muybridge/The LIFE Picture Collection/Gett

By Douglas Heaven

Life is an open book and were writing in it. A team at Harvard University has used the CRISPR genome-editing tool to encode video into live bacteria demonstrating for the first time that we can turn microbes into librarians that can pass records on to their descendants and perhaps to ours.

The technique could even let us create populations of cells that keep their own event logs, making records as biological processes like disease or brain development happen.

DNA is one of the best media for storing data we know of. Researchers have already crammed large amounts of information from books to digital images into tiny amounts of biological material. In theory, a gram of single-stranded DNA can encode 455 exabytes, or roughly 100 billion DVDs.

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Most previous DNA storage work has used artificial DNA: digital information is translated into a DNA sequence that is then synthesized.

However, using CRISPR lets you cut and paste the digital information directly into the DNA of a live organism, in this case a large population of E. coli.

Bacteria use the CRISPR/Cas9 system to record information in their DNA about viruses they encounter. And this machinery has been co-opted by researchers to enable us to precisely edit genomes.

In bacteria, each new entry gets stored upstream of the last one, which makes it possible to read off a history of events in the order they happened. Previous groups have created lifelogging cells by using CRISPR/Cas9 to mark the genome when a particular event occurs. But these marks just provide a tally of how many times something happens.

Seth Shipman at Harvard University and his colleagues have now used a version of CRISPR with a different enzyme, called CRISPR/Cas1-Cas2. This let them add a message to the genome rather than simply cut a notch.

The message was a recorded image of a human hand and five images showing a galloping horse, taken from Eadweard Muybridges 1878 photographic study of the animals motion, which has since been animated.

Seth Shipman

To get the DNA sequences encoding this data inside the cells, the team applied an electrical current that opened channels in the cells walls and the DNA flowed in. Once inside, CRISPR got to work.

To read the data back again, the team sequenced the DNA of more than 600,000 cells. The large number is necessary because most cells will not have edited their genome entirely accurately. Every cell isnt going to acquire every piece of information we throw at it, says Shipman. The more cells that are sampled, the better the reconstruction of the data. Fortunately, with modern sequencing tools, reconstruction is quick.

The five frames of a horse in motion showed that it is possible to capture data chronologically and replay them as a video. You get a physical record of events over time, says Shipman. For a long time we wanted to have some way of storing timing information inside cells, says Shipman. The CRISPR system is perfectly adapted to that.

This is a really neat paper, says Yaniv Erlich at Columbia University in New York. The team didnt store that much data and it is not clear that the CRISPR technique can compete with the storage capacity of synthetic DNA. But inserting information into living cells opens up a lot of possibilities, he says.

For a start, it lets you add to or change the stored information later. And because the data is written into the bacterial genomes, it gets passed down between generations. Mutations happen, but not nearly as many as you think, says Shipman certainly not enough to corrupt the data stored across a large population of cells.

Storing data in bacteria could even be a way to make important information survive a nuclear apocalypse. You could useDeinococcus radiodurans, a species that maintains its genome in extreme radiation conditions, says Erlich.

Shipman wants to turn cells into recording devices that document what takes place inside themselves. He is excited about the possibility of keeping a log book of events inside a living brain as it develops, showing how different brain cells acquire their distinct identities.

Its hard to understand what events make brain cells fully defined, says Shipman. You cant easily get in there to take a look. Taking a brain apart disrupts the whole process.

You could also get a cell to diarise what happens as it changes from healthy to diseased. Now that would be an account worth reading.

Journal reference: Nature, DOI: 10.1038/nature23017

More on these topics:

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Bone Marrow and Stem Cell Transplant Program UNM …

The Bone Marrow and Stem Cell Transplant Center at the UNM Comprehensive Cancer Center offers treatment choices for people with lymphoma and myeloma.Almost 1,000 New Mexicans receive a blood cancer diagnosis each year, according to American Cancer Society estimates.

The UNM Comprehensive Cancer Center program is the states only bone marrow transplant program.It includes a nurse manager, nurse coordinator, a social worker, a pharmacist, infusion nurses, and an inpatient team. Bone marrow transplantation needs a multidisciplinary team because of the complexity in coordinating care, says Fero. The teams Nurse Manager, Maria Limanovich, says the team follows each person from the beginning of bone marrow transplant treatment through completion.

Bone marrow, the soft reddish material that fills the inside of our bones, produces millions of new blood cells each second. These millions of cells come from a tiny number of bone marrow stem cells. These stem cells are special because they can mature into all of the different types of cells in the blood. These are the cells doctors collect for a transplant.

Autologous bone marrow transplants are standard treatments for lymphoma and myeloma.

Matthew Fero, MD, FACPBone Marrow Stem Cell Program Director

Because bone marrow is a liquid organ, Fero says, it can pass through an IV [intravenous] line. Doctors rarely need to take stem cells directly out of the bone, Fero explains. They use drugs to coax bone marrow stem cells into the bloodstream. From there, the blood travels through an IV line into an apheresis machine that sorts the stem cells out and returns the rest of the blood. The experience is like donating blood at a blood bank.

Once stem cells are safely stored out of the bloodstream, doctors use high-dose chemotherapy to eradicate the remaining cancer. When chemotherapy is out of their system, the patients stem cells are reinfused. The process is similar to blood transfusion. Stem cells find their way back to bone marrow where they begin to grow and make new blood cells.

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Bone Marrow and Stem Cell Transplant Program UNM …

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Hypogonadism Testosterone Therapy Treatment | Ageonics Medical

Hypogonadism is the underproduction of sex hormones by the gonads, or sex organs. Male hypogonadism refers to the underproduction of testosterone, which can severely limit a growing boys sexual development and frustrate an adult males quality of life.

The easiest way to understand the effects of hypogonadism is to understand the effects of proper testosterone levels in a mans development. The male sex hormone contributes to everything from the deepening of the voice, the growth of body hair, and muscle building to sex drive and general self confidence. A lack of testosterone has the opposite effect, and can contribute to a higher-pitched voice, loss of body hair, muscle loss, lowered sex drive, and decreased confidence.

Hypogonadism can occur as early as fetal development, which may lead to androgyny, but male hypogonadism in particular can also occur as a result of testicular injury. Hypogonadism sustained before puberty is particularly problematic, as it will greatly affect puberty. Low testosterone during puberty can lead to:

Hypogonadism that occurs after puberty is less obvious, but can also lead to major problems, such as:

While these are some of the physical symptoms of hypogonadism, it is worth noting that hypogonadism, no matter when it occurs, can also lead to persistent psychological and emotional duress. Common stressors that accompany male hypogonadism may include:

Areas Low Testosterone Can Affect

Many adult males who have gone through puberty normally but experience hypogonadism in later life may not recognize its symptoms. If you suspect that you may be suffering from hypogonadism, testosterone replacement therapy is a potential treatment option. The pervasive symptoms of hypogonadism are caused in large part by low testosterone, and testosterone replacement therapy can greatly improve quality of life and sex drive.

Dr. Olivieri has many decades of experience treating men with low testosterone, and has helped thousands of men experience the benefits of normal testosterone levels, improving their lives, marriages, and mobility. If you know someone who may be suffering from hypogonadism or low testosterone in general, consider calling Aegonics Medical for a consultation.

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Hypogonadism, Male | ARUPConsult Lab Test Selection

Bhasin S, Cunningham GR, Hayes FJ, Matsumoto AM, Snyder PJ, Swerdloff RS, Montori VM, Task Force, Endocrine Society. Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95(6): 2536-59. PubMed

Choosing Wisely. An initiative of the ABIM Foundation. [Accessed: Sep 2017]

Dean JD, McMahon CG, Guay AT, Morgentaler A, Althof SE, Becher EF, Bivalacqua TJ, Burnett AL, Buvat J, Meliegy AE, Hellstrom WJ, Jannini EA, Maggi M, McCullough A, Torres LO, Zitzmann M. The International Society for Sexual Medicine’s Process of Care for the Assessment and Management of Testosterone Deficiency in Adult Men. J Sex Med. 2015; 12(8): 1660-86. PubMed

Dohle G, Arver S, Bettocchi C, et al. Guidelines on male hypogonadism. European Association of Urology. Arnhem (the Netherlands) [Accessed: Jun 2017]

Kushnir MM, Blamires T, Rockwood AL, Roberts WL, Yue B, Erdogan E, Bunker AM, Meikle W. Liquid chromatography-tandem mass spectrometry assay for androstenedione, dehydroepiandrosterone, and testosterone with pediatric and adult reference intervals. Clin Chem. 2010; 56(7): 1138-47. PubMed

Morales A, Bebb RA, Manjoo P, Assimakopoulos P, Axler J, Collier C, Elliott S, Goldenberg L, Gottesman I, Grober ED, Guyatt GH, Holmes DT, Lee JC, Canadian Mens Health Foundation Multidisciplinary Guidelines Task Force on Testosterone Deficiency. Diagnosis and management of testosterone deficiency syndrome in men: clinical practice guideline. CMAJ. 2015; 187(18): 1369-77. PubMed

Paduch DA, Brannigan RE, Fuchs EF, Kim ED, Marmar JL, Sandlow JI. The laboratory diagnosis of testosterone deficiency. Urology. 2014; 83(5): 980-8. PubMed

Seftel AD, Kathrins M, Niederberger C. Critical Update of the 2010 Endocrine Society Clinical Practice Guidelines for Male Hypogonadism: A Systematic Analysis. Mayo Clin Proc. 2015; 90(8): 1104-15. PubMed

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ASH Physician-Scientist Career Development Award

The application cycle is now open.

The Physician-Scientist Career Development Award provides an opportunity for first-, second-, and third-year medical students to gain experience in hematology research under the mentorship of an ASH member and to learn more about the specialty. Awardees must agree to spend more than 80 percent of their time, during the immersive, year-long project, conducting laboratory, translational, or clinical hematology research.

The award provides recipients with $42,000 of funding for a one-year period. This includes $32,000 to support the trainee, $4,000 for research supplies, $4,000 for insurance and educational expenses (including one course), and $2,000 for meeting attendance (including the ASH annual meeting).

Award recipients attend the ASH annual meeting in December following their research experience. During an orientation breakfast, members of the ASH Committee on Training and Trainee Council are available to discuss specific areas of research and to provide recommendations on annual meeting sessions, events, abstracts, and/or posters related to the awardees areas of interest. Awardees are also invited to attend the Career Development Reception on Monday evening.

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SelectTimelineEligibility RequirementsApplication ProcessEvaluation, Selection, and NotificationTerms and Conditions Questions

At the time of application, the applicant must:

The following individuals are not eligible to apply:

Physician-Scientist Career Development Award mentors must be ASH members who will assume the responsibilities of overseeing the award recipients work and progress. Mentors assist in completing the program application, aid the recipient in his/her research, and ensure that the recipient meets all deadlines, including those for award reports.

ASH believes that a multiple mentorship model is important for researchers regardless of their career stage. Therefore, the applicant may include a second mentor in his/her application to provide advice and career development support as well as additional guidance on research questions. If the study section believes additional mentorship may be beneficial to the applicant, members of the study section will be responsible for identifying an appropriate mentor and facilitating contact. The additional mentor will coordinate with the research mentor to the extent that is feasible and desirable.

The Physician-Scientist Career Development Award application, as well as all supporting documents outlined below, must be submitted through the ASH online awards system.

Required Documents

For more information about the required materials, please see the Required Documents PDF.

Applications submitted by the deadline will be reviewed by the Physician-Scientist Career Development Award study section. Applicants will be evaluated on the following criteria:

There is no limit to the number of applications that an institution and its affiliates can submit. However, no more than one award will be granted for any given institution. For this purpose, ASHs definition of medical school encompasses all affiliate institutions (e.g., University of Washington would include the Fred Hutchinson Cancer Research Center, Seattle Children’s Hospital, etc.).

All awards will be activated on July 1 of the award year and will conclude on June 30 of the following year (off-cycle exceptions may be allowed with explanation). Payment will be made in two equal installments (on July 1 and on January 1) to the institution at which the recipient will conduct his/her research. Research award funds are non-transferable.

As a condition of acceptance of the Physician-Scientist Career Development Award, it is required that:

After the award period, recipients are required to submit a final written report (not to exceed four pages). The report will include a summary of research, manuscript submissions during the award period related to the funded research, presentations (locally and nationally) of the funded research during the award period, educational goals met, and a summary of the usage of funds. This report must be emailed to awards@hematology.org. Members of the Oversight Committee will evaluate final reports.

Please note: Failure to submit the final report or an interim progress report will render the applicant ineligible for future ASH funding.

Students making significant progress may submit a written request to reapply for one additional year of funding. Award renewal requests should be submitted by the award deadline. As part of the request, a joint letter must be submitted by the awardee and his/her mentor addressing the following:

No-cost extensions may be requested if needed. To request an extension, the awardees mentor should submit a letter to ASH by emailing the Awards Department at awards@hematology.org.

Any funding not spent by the end of the award term must be returned to the Society when submitting the final report. A check made out to American Society of Hematology must be sent to the address listed below:

Allie SamisAwards Programs SpecialistAmerican Society Hematology2021 L Street NW, Suite 900Washington, DC 20036

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