Archive for December, 2018

A bone marrow transplant, also called a stem cell transplant, is a treatment for some types of cancer. For example, you might have one if you have leukemia, multiple myeloma, or some types of lymphoma. Doctors also treat some blood diseases with stem cell transplants.

In the past, a stem cell transplant was more commonly called a bone marrow transplant because the stem cells were collected from the bone marrow. Today, stem cells are usually collected from the blood, instead of the bone marrow. For this reason, they are now often called stem cell transplants.

A part of your bones called bone marrow makes blood cells. Marrow is the soft, spongy tissue inside bones. It contains cells called hematopoietic stem cells (pronounced he-mah-tuh-poy-ET-ick). These cells can turn into several other types of cells. They can turn into more bone marrow cells. Or they can turn into any type of blood cell.

Certain cancers and other diseases keep hematopoietic stem cells from developing normally. If they are not normal, neither are the blood cells that they make. A stem cell transplant gives you new stem cells. The new stem cells can make new, healthy blood cells.

The main types of stem cell transplants and other options are discussed below.

Autologous transplant. This is also called an AUTO transplant or high-dose chemotherapy with autologous stem cell rescue.

In an AUTO transplant, you get your own stem cells after doctors treat the cancer. First, your health care team collects stem cells from your blood and freezes them. Next, you have powerful chemotherapy, and rarely, radiation therapy. Then, your health care team thaws your frozen stem cells. They put them back in your blood through a tube placed in a vein (IV).

It takes about 24 hours for your stem cells to reach the bone marrow. Then they start to grow, multiply, and help the marrow make healthy blood cells again.

Allogeneic transplantation. This is also called an ALLO transplant.In an ALLO transplant, you get another persons stem cells. It is important to find someone whose bone marrow matches yours. This is because you have certain proteins on your white blood cells called human leukocyte antigens (HLA). The best donor has HLA proteins as much like yours as possible.

Matching proteins make a serious condition called graft-versus-host disease (GVHD) less likely. In GVHD, healthy cells from the transplant attack your cells. A brother or sister may be the best match. But another family member or volunteer may also work.

Once you find a donor, you receive chemotherapy with or without radiation therapy. Next, you get the other persons stem cells through a tube placed in a vein (IV). The cells in an ALLO transplant are not typically frozen. This way, your doctor can give you the cells as soon as possible after chemotherapy or radiation therapy.

There are 2 types of ALLO transplants. The best type for each person depends on his or her age, health, and the type of disease being treated.

Ablative, which uses high-dose chemotherapy

Reduced intensity, which uses milder doses of chemotherapy

If your health care team cannot find a matched adult donor, there are other options. Research is ongoing to determine which type of transplant will work best for different people.

Umbilical cord blood transplant. This may be an option if you cannot find a donor match. Cancer centers around the world use cord blood.

Parent-child transplant and haplotype mismatched transplant. These types of transplants are being used more often. The match is 50%, instead of near 100%. Your donor might be a parent, child, brother, or sister.

Your doctor will recommend an AUTO or ALLO transplant based mostly on the disease you have. Other factors include the health of your bone marrow and your age and general health. For example, if you have cancer or other disease in your bone marrow, you will probably have an ALLO transplant. In this situation, doctors do not recommend using your own stem cells.

Choosing a transplant is complicated. You will need help from a doctor who specializes in transplants. You might need to travel to a center that does many stem cell transplants. Your donor might also need to go. At the center, you will talk with a transplant specialist and have an examination and medical tests.

Before a transplant, you should also think about non-medical factors. These include:

Who can care for you during treatment

How long you will be away from work and family responsibilities

If your insurance pays for the transplant

Who can take you to transplant appointments

Your health care team can help you find answers to these questions.

The information below tells you the main parts of AUTO and ALLO transplants. Your health care team usually does the steps in order. But sometimes certain steps happen in advance, such as collecting stem cells. Ask your health care team what to expect before, during, and after a transplant.

Part 1: Collecting your stem cells

During this part, you get injections of a medication to raise your number of stem cells.Your doctor may collect stem cells through your veins using standard IVs or a catheter, which is placed in a large vein in the chest. This stays in place throughout your stay at the hospital. The catheter is used to give chemotherapy, other medications, and blood transfusions.

Time: Several days

Where it is done: Clinic or hospital building. You do not need to stay in the hospital overnight.

Part 2: Transplant treatment

You get high doses of chemotherapy, and rarely, radiation therapy.

Time: 5 to 10 days

Where it is done: A clinic or hospital. At many transplant centers, people need to stay in the hospital for the duration of the transplant, usually about 3 weeks. At some centers, a person receives treatment in the clinic and can come in every day.

Part 3: Getting your stem cells back

This part is called the stem cell infusion. Your health care team puts your stem cells back in your blood through the transplant catheter.

Time: Each infusion usually takes less than 30 minutes. You may receive more than 1 infusion.

Where it is done: A clinic or hospital.

Part 4: Recovery

You take antibiotics and other drugs. You get blood transfusions through your transplant catheter, if needed. This is also when your health care team helps with any transplant side effects.

Time: Approximately 2 weeks

Where it is done: A clinic or hospital. You might be staying in the hospital.

Part 1: Collecting stem cells from your donor

During this part, the health care team gives your donor injections of a medication to increase white cells in the blood, if the cells are collected from blood. Some donors will donate bone marrow in the operating room during a procedure which takes several hours.

Time: Varies based on how the stem cells are collected

Where it is done: A clinic or hospital

Part 2: Transplant treatment

You get chemotherapy with or without radiation therapy.

Time: 5 to 7 days

Where it is done: Many ALLO transplants are done in the hospital.

Part 3: Getting the donor cells

This part is called the stem cell infusion. Your health care team puts the donors stem cells in your blood through the transplant catheter. It takes less than 1 hour. The transplant catheter stays in until after treatment.

Time: 1 day

Where it is done: A clinic or hospital

Part 4: Recovery

During the recovery, you receive antibiotics and other drugs. This includes medications to prevent graft-versus-host disease. If needed, you get blood transfusions through your catheter. This is also when your health care team takes care of any side effects from the transplant.

After the transplant, people visit the clinic frequently at first and less often over time.

Time: It varies.For an ablative transplant, people are usually in the hospital for about 4 weeks in total.For a reduced intensity transplant, people are in the hospital or visit the clinic daily for about a week.

The words successful transplant might mean different things to you, your family, and your health care team. Below are 2 ways to measure transplant success: Your blood counts are back to safe levels. A blood count is the number of red cells, white cells, and platelets in your blood. A transplant makes these numbers very low for 1 to 2 weeks. This causes risks of:

Infection from low numbers of white cells, which fight infections

Bleeding from low numbers of platelets, which stop bleeding

Tiredness from low numbers of red cells, which carry oxygen

Doctors lower these risks by giving blood and platelet transfusions after a transplant. You also take antibiotics to help prevent infections. When the new stem cells multiply, they make more blood cells. Then your blood counts improve. This is one way to know if a transplant is a success.

It controls your cancer. Doctors do stem cell transplants with the goal of curing disease. A cure may be possible for some cancers, such as some types of leukemia and lymphoma. For other people, remission is the best result. Remission is having no signs or symptoms of cancer. After a transplant, you need to see your doctor and have tests to watch for any signs of cancer or complications from the transplant.

Talking often with your health care team is important. It gives you information to make decisions about your treatment and care. The following questions may help you learn more about stem cell transplant:

Which type of stem cell transplant would you recommend? Why?

If I will have an ALLO transplant, how will we find a donor? What is the chance of a good match?

What type of treatment will I have before the transplant? Will radiation therapy be used?

How long will my treatment take? How long will I stay in the hospital?

How will a transplant affect my life? Can I work? Can I exercise and do regular activities?

How will we know if the transplant works?

What if the transplant does not work? What if the cancer comes back?

What are the short-term side effects that may happen during treatment or shortly after?

What are the long-term side effects that may happen years later?

What tests will I need later? How often will I need them?

If I am worried about managing the costs of treatment, who can help me with these concerns?

Side Effects of a Bone Marrow Transplant (Stem Cell Transplant)

Bone Marrow Aspiration and Biopsy

Donating Bone Marrow is Easy and Important: Here's Why

How Umbilical Cord BloodCan Save Someone's Life

Bone Marrow Transplants and Older Adults: 3 Important Questions

Be the Match: About Transplant

Be the Match: National Marrow Donor Program

Blood & Marrow Transplant Information Network (BMT InfoNet) National Bone Marrow Transplant Link (nbmtLINK)

U.S. Department of Health and Human Services: Learn About Transplant as a Treatment Option

Go here to read the rest:
What is a Bone Marrow Transplant (Stem Cell Transplant ...

To prepare your body for bone marrow or stem cell transplant, youll be treated with high doses of chemotherapy with or without radiation to destroy cancerous cells. Some healthy cells may also be destroyed, which can cause unpleasant side effects. These side effects typically go away after a few weeks.

Once this preparation is complete, new stem cells will be transplanted through your veins and the cells will make their way to your bone marrow. These stem cells will mature into healthy marrow, to produces healthy blood and immune cells.

Stem cells transplants can come from your own bone marrow (autologous) or a donors marrow (allogeneic). Whether autologous or allogeneic stem cells are used depends on your condition, and the procedures have some differences.

Uses your own stem cells. Before chemotherapy, your stem cells are collected by apheresis, frozen with a preservative and stored until they are needed. Because the cells are yours, theres no risk of your body rejecting the transplanted stem cells. This method is appropriate for blood-related cancers like multiple myeloma, non-Hodgkin lymphomas and Hodgkin disease, as well as certain germ-cell cancers.

Use healthy cells from a donor, when an immunological effect is needed to fight your cancer. Your donor will usually be a sibling or a strong match from the national registry. If a matched sibling or unrelated donor cannot be found, cord blood stem cells or a mismatched relative donor may be used.

The donors stem cells are collected by apheresis or from the bone marrow in a surgical procedure. Youll need to take medicines to suppress your immune system to prevent rejection and keep the donors immune cells from attacking your normal cells. Donor-cell transplant is used to treat blood-related cancers like leukemias and some lymphomas or multiple myeloma, and bone marrow failure disorders like myelodysplastic syndrome and aplastic anemia.

Follow this link:
Bone Marrow & Stem Cell Transplant | IU Health

What are Stem Cells?

Stem cells are super unique in that they have the ability to go through numerous cycles and cell divisions while maintaining the undifferentiated state. Primarily, stem cells are capable of self-renewal and can transform themselves into other cell types of the same tissue. Their crucial role is to replenish dying cells and regenerate damaged tissue. Stem cells have a limited life expectation due to environmental and intrinsic stress factors. Because their life is endangered by internal and external stresses, stem cells have to be protected and supported to delay preliminary aging. In aged bodies, the number and activity of stem cells in reduced.

Until several years ago, the tart, unappealing breed of the Swiss-grown Uttwiler Sptlauber apples, did not seem to offer anything of value. That was until Swiss scientists discovered the unusual longevity of the stem cells that kept these apples alive months after other apples shriveled and fell off their trees. In the rural region of Switzerland, home of these magical apples, it was discovered that when the unpicked apples or tree bark was punctured, Swiss Apple trees have the ability to heal themselves and last longer than other varieties. What was the secret to these apples prolonged lives?

Proven to Diminish the Signs of Aging

These scientists got to work to find out. What they revealed was that apple stem cells work just like human stem cells, they work to maintain and repair skin tissue. The main difference is that unlike apple stem cells, skin stem cells do not have a long lifespan, and once they begin depleting, the signs of aging start kicking in (in the forms of loose skin, wrinkles, the works). Time to harness these apple stem cells into anti aging skin care! Not so fast. As mentioned, Uttwiler Sptlauber apples are now very rare to the point that the extract can no longer be made in a traditional fashion. The great news is that scientists developed a plant cell culture technology, which involves breeding the apple stem cells in the laboratory.

Human stem cells on the skins epidermis are crucial to replenish the skin cells that are lost due to continual shedding. When epidermal stem cells are depleted, the number of lost or dying skin cells outpaces the production of new cells, threatening the skins health and appearance.

Like humans, plants also have stem cells. Enter the stem cells of the Uttwiler Sptlauber apple tree, whose fruit demonstrates an exceptionally long shelf-life. How can these promising stem cells help our skin?

Studies show that apple stem cells boosts production of human stem cells, protect the cell from stress, and decreases wrinkles. How does it work? The internal fluid of these plant cells contains components that help to protect and maintain human stem cells. Apple stem cells contain metabolites to ensure longevity as the tree is known for the fact that its fruit keep well over long periods of time.

When tested in vitro, the apple stem cell extract was applied to human stem cells from umbilical cords and was found to increase the number of the stem cells in culture. Furthermore, the addition of the ingredient to umbilical cord stem cells appeared to protect the cells from environmental stress such as UV light.

Apple stem cells do not have to be fed through the umbilical cord to benefit our skin! The extract derived from the plant cell culture technology is being harnessed as an active ingredient in anti aging skincare products. When delivered into the skin nanotechnology, the apple stem cells provide more dramatic results in decreasing lines, wrinkles, and environmental damage.

Currently referred to as The Fountain of Youth, intense research has proved that with just a concentration level of 0.1 % of the PhytoCellTec (apple stem cell extract) could proliferate a wealth of human stem cells by an astounding 80%! These wonder cells work super efficiently and are completely safe. Of the numerous benefits of apple stems cells, the most predominant include:

See the original post here:
Apple Stem Cells - The Anti-Aging skin care ingredient ...

Enzyme can target almost half of the genomes ZIP codes and could enable editing of many more disease-specific mutations.

McGovern Institute scientist is recognized with award for outstanding and creative achievements made in the life and medical sciences.

Whitehead team deploys CRISPR tools to better understand and uncover ways of improving methotrexate, a popular chemotherapy drug.

A new daughter helped Alejandra Falla PhD 18 gain perspective on life and her tiny MIT regalia stole the show at Commencement.

Study reveals why people with the APOE4 gene have higher risk of the disease.

With SHERLOCK, a strip of paper can now indicate presence of pathogens, tumor DNA, or any genetic signature of interest.

Whitehead Institute researchers are using a modified CRISPR/Cas9-guided activation strategy to investigate the most frequent cause of intellectual disability in males.

Department of Biology kicks off IAP seminar series with a lecture by synthetic-biology visionary George Church.

New delivery system developed by MIT team deletes disease-causing genes and reduces cholesterol.

REPAIR system edits RNA, rather than DNA; has potential to treat diseases without permanently affecting the genome.

Biological engineers identify genes that protect against protein linked to Parkinsons disease.

MIT associate professor and member of the Broad Institute and McGovern Institute recognized for commitment to invention, collaboration, and mentorship.

Five recipients honored for their fundamental and complementary accomplishments related to CRISPR-Cas9.

Mark Bathe develops molecular packages for targeted delivery of drugs, vaccines, and gene-editing tools.

Red, green, and blue light can be used to control gene expression in engineered E. coli.

SDSCon 2017 gathers community and showcases research projects that apply data science to major systems and issues.

Introducing genetic mutations with CRISPR offers a fast and accurate way to simulate the disease.

New system adapts tool known for gene editing; to be used in rapid, inexpensive disease diagnosis.

MIT professor and NAS report committee co-chair Richard Hynes gives insight into the reports recommendations.

Charles Jennings of MITs McGovern Institute discusses the intellectual property dispute over the gene-editing technique.

Original post:
CRISPR | MIT News

Last month, Chinese national He Jiankui flouted a vigorous scientific debate when he told a room full of scientists that he had manipulated the embryos of Chinese twins, using Crispr, and made one resistant to their fathers HIV. He announced to the group that the twins of the experiment had already been born.

The big reveal was ethically dubious at best. He never went through proper channels to get his experiment approved. The scientist is being condemned by his contemporaries for ignoring universally respected protocol and forgoing peer research. In The Washington Post, Eileen Hunt Botting wrote that Hes experiment had no moral or scientific justification, given that the medical profession can successfully prevent fathers from transmitting HIV without genetic engineering. Botting went on to compare Hes experiment to popular science fiction: However extreme their scenarios, both Gattaca and Frankenstein remind us that all children are vulnerable to discrimination based on factors beyond their controlincluding circumstances shaped by artificial reproductive technology.

Collier Meyerson is an Ideas contributor at WIRED. She was awarded an Emmy for her work on MSNBC's All In with Chris Hayes and two awards for her reporting from the National Association of Black Journalists. She is a contributing editor at New York Magazine, and maintains the Nobler Fellowship at The Nation Institute.

It's easy to fear this kind of procedure: follow embryonic gene editing to its logical conclusion and well end up with a society dramatically altered through eugenics, with generations of people engineered to fit a single vision of perfection. Its an unequivocally scary prospect. (Also, those people would be boring in their uniformity, and no sane person wants a world full of cogs.)

When we think about genetic engineering, we tend to think in absolute termsa black-and-white stance with a barrier that, once crossed, leads to the downfall of civilization as we know it. In reality, we make genetic decisions all the time, in ways that are already subtly altering the people who make up society. It might seem strange to group Hes experiment alongside the more common genetic procedures parents use to ensure their offspring don't inherit diseases. Yet both exist within a system in whichgenerallyonly the economically privileged are able to pay for treatment to alter the traits that their offspring will and wont inherit. The danger isn't in the procedure itself, but who has access to this type of medicineand right now that group is limited to those who can pay.

Suspend your belief in moral absolutism for just a moment. There is a universe in which the eugenics He practiced are actually a good idea. When we think of scientific eugenics, like in the movies, its generally of the nonessential sort, the kind that will work to maintain western European standards of beauty or universal standards of good healthwhite babies with blue eyes, blond hair, and an ability to run 12 marathons a year. But what if the technology were used, in earnest, to create better outcomes for those with a proverbial leg down on the ladder of white supremacy?

In the United States, where black women disproportionately contract HIV, or in eastern and southern Africa, where according to UNICEF half the worlds population with HIV live, breeding immunity into the population could be a good thing. The same thing goes for other possibly deadly diseases like sickle cell anemia, which most severely affects black children.

In practice, use of these techniques is a lot grimmer. The idea that [gene editing] could be rolled out in subsaharan Africa is a fantasy, Hank Greely, a professor who specializes in the ethics of genetics at Stanford, told me. The place where HIV is most prevalent is the place where people have the least access to medical care, he said, explaining that for the foreseeable future the technology will cost a lot of money.

In other places in the world, these kinds of genetic enhancements are already a readily used option. Last year my friend Allison tested positive for the BRCA gene, a mutation that dramatically increases her risk of developing ovarian cancer, breast cancer, or both. When Allison got the test results, it was a hard time, but ultimately she was thankful for the information. Recently Allison and I were discussing whether she would consider using in vitro fertilization to prevent passing the gene onto her children (should she choose to have them).

As far as Allison knows, she doesnt face fertility challenges, so there is no medical need for her to do in vitro. She would be electing to do something called preimplantation genetic diagnosis, a process that allows in vitro specialists to identify which embryos have BRCA and which dont, and then only implant the ones that dont.

My friend told me she doesnt expect to determine the fate of her future child using in vitro. I feel confident that, by the time I have kids who might be dealing with this, there will be other solutions, she said over text. But if her insurance were to cover it, she said shell reconsider.

Skewed access to the kind of treatment Allison considered is already creating a tiered genetic system, according to Judith Daar, a law professor at UC Irvine and author of The New Eugenics. Aside from preimplantation genetic diagnosis, Daar told me that lack of access to IVF has revived early-20th-century eugenics ideas that some are better fit to reproduce than others. Current law and policy surrounding IVFwhere some are given access to expensive treatments while, for others, they remain out of reachare tantamount to a new eugenics, she says, because they enable demographic features likes socioeconomic status, race, ethnicity, marital status, sexual orientation, and disability to suppress access to reproductive technology.

Though it doesnt involve manipulating embryos, weve already got a version of Hes vision right under our nose. Gene technology is, for the most part, geared toward those who have. Its different, for surethere is no editing, just eliminating embryos deemed undesirable. But traces of the same issue remain: Only some babies will benefit. How to universalize access is the real ethical pursuit.

Correction appended, 12/17/18, 9:35 PM EDT: This story has been updated to correct the spelling of Hank Greely's name.

See the original post here:
Crispr Babies, IVF, and the Ethics of Genetic Class Warfare ...

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

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

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

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

Read more:
Androgenetic alopecia - Genetics Home Reference - NIH

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Read the original:
Cryopreservation - Wikipedia

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

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

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

12. He has doubled down.

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

13. Scientific academies have prevaricated.

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

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

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

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

14. A leading geneticist came to Hes defense.

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

Continued here:
15 Worrying Things About the CRISPR Babies Scandal - The Atlantic

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

Industry Trends

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

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

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

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

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

Genetic Testing Market, By Test Type

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

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

Genetic Testing Market, By Application

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

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

Genetic Testing Market, By Region

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

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

Competitive Market Share

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

Genetic Testing Industry Background

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

What Information does this report contain?

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

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

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

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

Continued here:
Genetic Testing Market Share Analysis - Global Industry ...

From Popular Mechanics

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

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

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

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

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

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

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

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

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

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

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

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

Source: SCMP

('You Might Also Like',)

See more here:
The Infamous Scientist Behind the CRISPR Baby Gene Editing Is ...

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

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

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

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

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

SOPA ImagesLightRocket/Getty Images

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

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

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

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

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

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

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

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

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

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

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

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

Contact us at editors@time.com.

See the rest here:
What Happens to the CRISPR Twins? Their Lives Will ... - time.com

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

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

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

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

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

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

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

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

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

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

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

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

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

Link:
Rogue Scientist Says Another Crispr Pregnancy Is Underway

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

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

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

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

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

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

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

Follow The New York Times Opinion section on Facebook, Twitter (@NYTopinion) and Instagram.

Read more:
Before the Claims of Crispr Babies, There Was Chinas One ...

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

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

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

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

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

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

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

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

Continue reading here:
Learn About Men's Health Issues and Genetics - Men's ...