Category Archives: Human Genetics

Scientists from the Rockefeller University have led a team of researchers to uncover how two different conditionsa genetic immunodeficiency and delayed acquired immunity--can combine to produce a life-threatening infection.

In the study ("Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity"),published online inCell,Jean-Laurent Casanova, M.D., Ph.D., head ofSt. Giles Laboratory of Human Genetics of Infectious Diseasesand a Howard Hughes Medical Institute Investigator,and his colleagues focused on the case of an otherwise healthy young girl who developed a life-threatening infection from a common strain of bacterium. Most of us carry Staphylococcus aureuson our skin and in our nostrils. It can cause minor infections (staph infections), but in some people, it results in severe disease.

The young girl's illness was mysterious. She had no known risk factors that would lead her to develop the acute form of the disease, and none of her family members had contracted it. So Dr. Casanova's group set out to define the underlying cause of her disease by searching her DNA for mutations that might make her more susceptible to staph disease.They quickly identified a likely culprita single-letter substitution in the two copies of a gene that encodes for the TIRAP, or Toll-interleukin 1 receptor domain containing adaptor, protein, used by specific immune cells to flag invading bacteria.

In laboratory experiments, the researchers found that TIRAP is critical for cells in the immune system's first line of defense against invaders. These are cells that develop before we are born, with built-in recognition systems for a host of molecules that are frequently present on the surface of invaders.

"We were sure this was the explanation for the severity of her staphylococcal disease," says Dr. Casanova. "We thought we had it all figured out."

But things turned out to be more complicated. To test his hypothesis, Dr. Casanova decided to analyze the DNA of other members of the patient's family. They hadn't suffered from severe staph infections, so they should have had normal TIRAP genes. However, he found the oppositeall seven members of her family had the same mutation as the young patient.

The researchers now had two questions instead of just one. Why did this child get the invasive disease? And why were the rest of her family seemingly immune, even though they shared her immune-compromising mutation?

The answers lie in a second line of immune defense that is not encoded within our DNA at birth. These secondary defenses are dependent on cells that generate antibodies against foreign compounds. "This is not something we are born with, but instead it is resistance that we acquire over the course of our lifetime when we are exposed to new pathogens," Dr. Casanova explains.

The researchers found that the patient lacked antibodies against a single molecule, known as lipoteichoic acid (LTA), but the levels were normal for all of her family members. LTA is present on the surface of staphylococcal bacteria, and normally it is recognized by immune cells in both lines of defense.

The antibodies against LTA were able to restore the function of the patient's immune cells in culture systems, and the researchers went on to confirm their hypothesis using a mouse model of the disease.

The results explain both why the patient developed life-threatening disease and why her family members didn't.

"Her illness likely resulted from failures in both lines of immunity. In her family, the second layer of defense compensated for genetic defects in the first," explains Dr. Casanova. "More broadly, it offers insight into how two people with the same infection, and even the same DNA, can have very different illnesses."

The rest is here:
Two Different Genetic Conditions Can Combine to Cause Severe ... - Genetic Engineering & Biotechnology News

CELL PRESSThe last Neanderthal died 40,000 years ago, but much of their genome lives on, in bits and pieces, through modern humans. The impact of Neanderthals' genetic contribution has been uncertain: Do these snippets affect our genome's function, or are they just silent passengers along for the ride? In Cell on February 23, researchers report evidence that Neanderthal DNA sequences still influence how genes are turned on or off in modern humans. Neanderthal genes' effects on gene expression likely contribute to traits such as height and susceptibility to schizophrenia or lupus, the researchers found.

"Even 50,000 years after the last human-Neanderthal mating, we can still see measurable impacts on gene expression," says geneticist and study co-author Joshua Akey of the University of Washington School of Medicine. "And those variations in gene expression contribute to human phenotypic variation and disease susceptibility."

Previous studies have found correlations between Neanderthal genes and traits such as fat metabolism, depression, and lupus risk. However, figuring out the mechanism behind the correlations has proved difficult. DNA can be extracted from fossils and sequenced, but RNA cannot. Without this source of information, scientists can't be sure exactly if Neanderthal genes functioned differently than their modern human counterparts. They can, however, look to gene expression in modern humans who possess Neanderthal ancestry.

In this study, researchers analyzed RNA sequences in a dataset called the Genotype-Tissue Expression (GTEx) Project, looking for people who carried both Neanderthal and modern human versions of any given gene--one version from each parent. For each such gene, the investigators then compared expression of the two alleles head-to-head in 52 different tissues.

"We find that for about 25% of all those sites that we tested, we can detect a difference in expression between the Neanderthal allele and the modern human allele," says the study's first author, UW postdoctoral researcher Rajiv McCoy.

Expression of Neanderthal alleles tended to be especially low in the brain and the testes, suggesting that those tissues may have experienced more rapid evolution since we diverged from Neanderthals approximately 700,000 years ago. "We can infer that maybe the greatest differences in gene regulation exist in the brain and testes between modern humans and Neanderthals," says Akey.

One example uncovered by this study is a Neanderthal allele of a gene called ADAMTSL3 that decreases risk of schizophrenia, while also influencing height. "Previous work by others had already suggested that this allele affects alternative splicing. Our results support this molecular model, while also revealing that the causal mutation was inherited from Neanderthals," says McCoy. Alternative splicing refers to a process in which mRNAs are modified before they leave the cell's nucleus. When the Neanderthal mutation is present, the cell's machinery removes a segment of the mRNA that is expressed in the modern human version. The cell ends up making a modified protein because of a single mutation from a Neanderthal ancestor.

The connection between that modified protein, height, and schizophrenia still requires more investigation, but it's an example of how small differences between modern humans and Neanderthals can contribute to variation in people.

"Hybridization between modern humans and Neanderthals increased genomic complexity," explains Akey. "Hybridization wasn't just something that happened 50,000 years ago that we don't have to worry about anymore. Those little bits and pieces, our Neanderthal relics, are influencing gene expression in pervasive and important ways."

__________________________________________

This visual abstract depicts the findings of McCoy et al., who show genome-wide interrogation of the functional differences between modern human and Neanderthal alleles reveals that Neanderthal-inherited sequences are not silent remnants of ancient interbreeding but have a measurable impact on gene expression that may contribute to phenotypic variation in modern humans. Credit:McCoy et al./Cell 2017

_____________________________________________________

Next steps may include investigating whether Denisovans--another species of hominins that crossbred with modern humans--are contributing to gene expression, as well as applying the side-by-side method of expression analysis more broadly. For this study, McCoy and his colleagues had to develop a new statistical approach to sift through the immense amount of RNA data, but the same technique could be used to compare gene expression differences between modern human alleles.

Article Source: Cell Press news release.Cell(@CellCellPress), the flagship journal of Cell Press, is a bimonthly journal that publishes findings of unusual significance in any area of experimental biology, including but not limited to cell biology, molecular biology, neuroscience, immunology, virology and microbiology, cancer, human genetics, systems biology, signaling, and disease mechanisms and therapeutics. Visit:http://www.cell.com/cell. To receive Cell Press media alerts, contact[emailprotected].

Cell, McCoy et al.: "Impacts of Neanderthal-introgressed sequences on the landscape of human gene expression" http://www.cell.com/cell/fulltext/S0092-8674(17)30128-9

_______________________________________________________

Subscribe to Popular Archaeology Premium. Available on all laptops and mobile devices, and still the industry's best value at only $9.00 annually.

___________________________________________

Travel and learn withFar Horizons.

____________________________________________

This richly illustrated issue includes the following stories: Recent findings shedding new light on the whereabouts of the remains of Philip of Macedon, father of Alexander the Great; how an archaeologist-sculptor is bringing bones of the dead back to life; archaeologists uncovering town life at the dawn of civilization; an exclusive interview with internationally acclaimed archaeologist James M. Adovasio about what makes the Meadowcroft Rockshelter prominent in the ongoing search for the first Americans; what archaeologists are finding at the site of the ancient city of Gath, the home town of the biblical Philistine giant, Goliath; and how scientists are redrawing the picture of human evolution in Europe.Find it on Amazon.com.

Originally posted here:
Neanderthal DNA contributes to human gene expression - Popular Archaeology

Consider the work of God; for who can make that straight, which He hath made crooked? Ecclesiastes 7:13 (The Israel Bible)

(Shutterstock)

New technology enabling scientists to manipulate genes, mixing human genes and organs with those of animals, is a disturbing trend in science which one rabbi believes mirrors the sin that led to global destruction in the generation of Noah.

Last week, the National Academies of Sciences and Medicine released a new report including recommendations to ensure genetic research done in the United States is performed responsibly and ethically. In essence, this report gave the greenlight to gene research, even though funding for such research is currently banned by the government because of the ethical dilemmas it raises.

The new technology bears with it practical risk. Genetic research can take two forms: gene editing to cure or prevent disease, and gene editing to enhance humans. Genetics is uncharted territory and scientists could accidentally introduce a dangerous mutation that will harm future generations, or, in an attempt to create vaccines, inadvertently create a superior form of the disease which could threaten mankind.

Rabbi Moshe Avraham Halperin of the Machon Madai Technology Al Pi Halacha (the Institute for Science and Technology According to Jewish Law) stated in response to the report that there are clear Torah guidelines for this new technology. Rabbi Halperin referred to the Biblical law concerning mixing of species.

Thou shalt not let thy cattle gender with a diverse kind: thou shalt not sow thy field with mingled seed: neither shall a garment mingled of linen and woollen come upon thee. Leviticus 19:19

It is forbidden to create a creature that is a mixture of species, but as long as they are not producing a new creature that has a different form, it is permitted, Rabbi Halperin told Breaking Israel News.

However, he noted, Improving species, even the human race, is not forbidden by Jewish law. Changing the color of the skin or hair is permitted, even more so when it concerns removing genetic maladies. But the process certainly needs oversight.

Rabbi Yosef Berger, rabbi of the Tomb of King David on Mount Zion, stressed that the issue of mixing species had serious Biblical ramifications, noting that the verse forbidding mixing breeds of animals directly preceded a section of the Torah dealing with sexual impropriety.

And whosoever lieth carnally with a woman, that is a bondmaid, betrothed to an husband, and not at all redeemed, nor freedom given her; she shall be scourged; they shall not be put to death, because she was not free. Leviticus 19:20

The rabbi explained the connection between the two distinct commandments.

This is also expressed in the sin of the generation of Noah, which, according to Jewish tradition was the forbidden mixing of animals and man, Rabbi Berger told Breaking Israel News, quoting Genesis.

And Hashem said: I will blot out man whom I have created from the face of the earth; both man, and beast, and creeping thing, and fowl of the air; for it repenteth Me that I have made them. Genesis 6:7

Noahs generation sinned sexually, but it was expressed in the mixing of species, he explained.

This sexual sin could prevent the coming Messianic era as the connection between man and woman is a holy part of the process of bringing geula (redemption). This is the basis of the requirement to be fruitful and multiply: to bring Moshiach (Messiah).

Rabbi Berger stressed that this mitzvah(Torah commandment) requires a proper level of purity. Mixing of species is an improper manifestation of procreation that led to the destruction of the generation of Noah.

Thus, even when saving lives, one of the most important mitzvot, one must be mindful of dangers and limits, Rabbi Berger cautioned.

The limits of science and ethics are indeed being expanded and tested in remarkable ways. In 2015, several groundbreaking experiments took place in genetic engineering. A herd of cloned cattle, genetically engineered with human DNA, were used to incubate antibodies against the Ebola virus. In the same year, scientists at Duke University announced that they had successfully boosted brain size in mice by using human DNA as a catalyst.

Also at Duke, kidneys from aborted human fetuses were transplanted into rats in order to determine if human organs could be grown in animals, solving the problem of organ donations.

In one particularly disturbing case, geneticists in China modified the DNA of human embryos, concentrating on the gene responsible for -thalassaemia, a potentially fatal blood disorder. However, in their final report, the researchers said they found a surprising number of unintended mutations.

These experiments illustrate just some of the astounding areas researchers are exploring. The science involved is staggering, but the ethical considerations are even more perplexing, and less likely to receive clear-cut answers.

Certain areas of research in the United States are stalled until the issue of abortions is resolved, establishing once and for all the legal status of fetuses and embryos. Manipulating genes in utero to eradicate genetic disease can alleviate great suffering, but brushes up against eugenics, the intentional improving of the human race. Negative eugenics were first espoused by the Nazis and other racist ideologies as a method of creating a master race.

The research takes on dark spiritual overtones in the context of the growing transhumanism movement, which believes that the human race can evolve beyond its current physical and mental limitations by means of science and technology.

Read the original post:
Is Genetic Engineering Recreating the Sin of Noah's Generation? - Breaking Israel News

Wisconsin State Farmer 10:45 a.m. CT Feb. 20, 2017

Marshfield Clinic Research Foundation(Photo: Supplied)

Marshfield -Marshfield Clinic scientists have launched a new study aimed at determining which genetic factors increase peoples susceptibility to blastomycosis, a deadly fungal infection found throughout central and northern Wisconsin.

The first phase will include recruitment of up to 350 study participants. Anyone previously diagnosed with blastomycosis, or blasto, is encouraged to participate in the study, which could give doctors insight into a mysterious disease that has impacted Wisconsinites for generations.

Were in the heart of blasto country; one significant frustration is we dont know a lot about the disease, said Dr. Holly Frost, study co-investigator and pediatrician at Marshfield Clinic Minocqua Center. If we can find genetic variations that indicate which people respond severely to this disease, it could speed up diagnoses and allow doctors to treat it earlier.

A concern with blasto is the spectrum of severity among patients of all ages and overall health. For instance, the lung infection may spread quickly in a healthy child, resulting in death. Meanwhile, a 70-year-old adult with a compromised immune system may recover quickly.

Thats why its so important researchers unearth any genetic clues that could put doctors closer to understanding blastomycosis, said Jennifer Meece, Ph.D., a Marshfield Clinic Research Foundation (MCRF) scientist and national blasto expert who has studied the disease for more than 10 years.

Scientists know breathing in a naturally occurring fungus often found in moist soil containing rotting plants and wood causes blasto and most infections occur in spring and fall. However, symptoms are similar to other respiratory illnesses, making it difficult to identify early. Also, symptoms dont develop until 3-15 weeks after infection. And while its classified as a rare disease nationally, cases in Wisconsin far exceed the national average.

So much about blastomycosis remains unknown and seemingly random from who is susceptible to what exactly spurs an outbreak but we know the answers are on the horizon, said Meece, co-investigator and director of MCRFs Integrated Research and Development Laboratory. Its enthralling to launch such a study that could impact so many peoples lives.

The study is open to children and adults in Wisconsin, regardless of where they were diagnosed. Study participants do not need to be Marshfield Clinic patients. Due to budget constraints, this first study requires all participants speak English, given no resources for translation.

Participation requires about one hour of clinic time for researchers to gather a sample, explain the study and answer questions. Each participant will receive $25. For more information call 715-221-6445 or email Blastomycosis.study@mcrf.mfldclin.edu.

This study is funded by $150,000 from the Marshfield Clinic Developments Clinician Scientist Research Award.

Marshfield Clinic Research Foundation (MCRF), a division of Marshfield Clinic, was founded in 1959. Its the largest private medical research institute in Wisconsin. MCRF consists of research centers in clinical research, agricultural health and safety, epidemiology, human genetics, and biomedical informatics. Marshfield Clinic investigators publish extensively in peer-reviewed medical and scientific journals addressing a wide range of diseases and other health issues, including cancer, infectious diseases, heart disease, diabetes, eye disease, neurological disease, pediatrics, radiology, women's health, agricultural safety and genetics.

Read or Share this story: http://www.wisfarmer.com/story/news/2017/02/20/new-marshfield-clinic-study-aims-id-genetic-factors-linked-severity-blastomycosis-illnesses/98154778/

Here is the original post:
New Marshfield Clinic study aims to ID genetic factors linked to severity of blastomycosis illnesses - Wisconsin State Farmer

MedicalResearch.com Interview with:

Dr. Ping Wu

Ping Wu, MD, PhDJohn S. Dunn Distinguished Chair in Neurological Recovery Professor, Department of Neuroscience & Cell Biology University of Texas Medical Branch Galveston, TX 77555-0620

MedicalResearch.com: What is the background for this study? What are the main findings? Response: Zika viral infection poses a major global public health threat, evidenced by recent outbreaks in America with many cases of microcephaly in newborns and other neurological impairments. A critical knowledge gap in our understanding is the role of host determinants of Zika-mediated fetal malformation. For example, not all infants born to Zika-infected women develop microcephaly, and there is a wide range of Zika-induced brain damage. To begin to fill the gap, we infected brain stem cells that were derived from three human donors, and found that only two of them exhibited severer deficits in nerve cell production along with aberrant alterations in gene expression.

MedicalResearch.com: What should readers take away from your report?

Response: Our study indicates that human genetic makeup may be a determinant for the severity of Zika-induced brain damage.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: Further studies are needed to identitywhat genes contribute to the human differences after Zika infection.

MedicalResearch.com: Is there anything else you would like to add?

Response: It is known that not all Zika virus strains causemicrocephaly. Our study now shows that brain cells from different human individuals can respond to the same Zika virus strain differently.Understanding the molecular mechanisms of human and viral determinants in response to Zika injection will provide important insights into new strategies to minimize ZIKV-mediated fetal brain malformations.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Stem Cell Reports:

Differential Responses of Human Fetal Brain Neural Stem Cells to Zika Virus Infection

Erica L. McGrath10,Shannan L. Rossi10,Junling Gao10,Steven G. Widen,Auston C. Grant,Tiffany J. Dunn,Sasha R. Azar, Christopher M. Roundy,Ying Xiong,Deborah J. Prusak,Bradford D. Loucas,Thomas G. Wood,Yongjia Yu,Ildefonso Fernndez-Salas,Scott C. Weaver,Nikos Vasilakis ,Ping Wu10Co-first author Published Online: February 16, 2017

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

More Medical Research Interviews on MedicalResearch.com

. Bookmark the

.

View post:
Human Genetics Contributes To Zika-Induced Brain Damage - MedicalResearch.com (blog)

Self Regional Hall(Photo: Craig Mahaffey/Clemson University)

A new facility that will house the Clemson University Center for Human Genetics has opened at the Greenwood Genetic Center.

The $6 million 17,000-square-foot structure, named Self Regional Hall, will allowClemsons growing genetics program to collaborate closely withresearchers at the center and to focus on early diagnostic tools for autism, cognitive developmental disorders, cancer and rare metabolic disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disordersand their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements, who has a child with special needs.

As you all know," he added, "an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty, officials said.

GCC director Dr. Steve Skinner said the facilityis the nextstep in a collaboration of more than 20 years.

"We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders, he said.

For more information about GGC, go towww.ggc.org.

Read or Share this story: http://grnol.co/2lcrenp

See the article here:
New research facility opens at Greenwood Genetics Center - Greenville News

The CRISPR/Cas9 (CRISPR) technique has been used to modify genes in animals, plants and fungi, organisms different from and more complex than the bacteria in which the molecular components originally evolved. It has undergone several refinements since its introduction, each iteration proving more accurate, with fewer off-target effects. The Stanford University bioethicist Hank Greely contemplates using CRISPR to touch up human embryos which have been produced by in vitro fertilization and prescreened for overall suitability by gene sequencing . George Church, a Harvard University genetic technologist and entrepreneur, advocates a more aggressive program of CRISPR-mediated genetic improvements to future generations.

Claims of the near-infallibility of CRISPR may be overstated, but even if it could be made to operate perfectly, would using CRISPR to improve humans by altering embryos ever be justified? Since CRISPR acts on genes, not traits (which are presumably the target of any prospective modification), the answer to this question depends the relationship between them.

In fact, there is a growing realization that DNA is far from the code of life it has long been claimed to be. Geneticists commonly use terms like epigenetics (functional effects from chemical modifications of genes), epistasis (consequences of interaction between the products of different genes), and incomplete penetrance (failure of a gene to have its default effect), to signal their expectation that, apart from such exceptions, a gene, or ensemble of genes will influence a trait in a reliable fashion. But it appears that it is the well-behaved gene that may be the exception. A study in the journal Genome Research reported that the genes of monozygotic (identical) twins exhibit different patterns of activity-affecting modification from early stages of development. A review article in the journal Human Genetics discussed the implications of the many known examples of 'disease-causing mutations' that fail to cause disease in at least a proportion of the individuals who carry them. The authors noted that in some cases the ability of a bad gene to cause disease appears to require the presence of one or more genetic variants at other loci. An unstated implication of this is that when a typically pathogenic genetic variant is compensated by a second one, replacing it by its wild type or common counterpart would likely cause problems.

Surveying a rash of new data casting doubt on soundness of the received corpus of human genetics, a recent editorial in the journal Nature asserted in that many [human] genetic mutations have been misclassified as harmful. This accompanied a news feature that began Lurking in the genes of the average person are 54 mutations that look as if they should sicken or even kill their bearer. But they dont.

Part of the reason for the disarray in the field is the notion, long rejected by geneticists but difficult to completely dispel, that individual genes map one-to-one to specific traits or diseases. But recent research suggests that the problems of genotype-phenotype mapping go much deeper, to the concept of the gene itself. One problem is the fact that genomes have unique evolutionary histories. The genes that helped establish the basic body plans and organ structures of animals around 600 million years ago still operate in present-day species, but they have diverged in their precise functions, partnering with different accessory genes in different kinds of animals, even when making the same structure (an eye, a heart, a limb). Consequently, members of the same species (including individual humans) can use variable genetic means to accomplish the same or similar ends. This rewiring effect is known to evolutionary biologists as developmental system drift.

Another even more serious difficulty in assigning definite functions to genes is that their protein products do not have fixed identities. For more than half a century molecular biology was dominated by what came to be called Anfinsens dogma, the doctrine that the polypeptide chains specified by a gene fold in unique fashions, and that the resulting proteins therefore perform similarly in all contexts. It is now recognized, however, that many proteins have one or more intrinsically disordered domains, and the context-dependent interactions among them constitute a protein-based system of inheritance that does not depend on changes in DNA. Intrinsic disorder is particularly prevalent among gene products that control the expression of other genes in complex, multicellular organisms, undermining standard ideas of how gene regulatory networks regulate embryonic development and organ physiology.

Thus, even the most precise alteration of a known gene with CRISPR is fraught with uncertainties. This may be worth the risk in an existing person with a disabling or mortal condition for which there is no other effective treatment. But it would never be so in an embryo, where the intention would be to improve a prospective individuals biological characteristics. Certainly a trait could be altered by gene editing, but not without the possibility of deranging other traits that may well have turned out normally in the unmodified embryo. Stated differently, engineering an organism, in analogy to engineering a mechanism or machine, is an inapplicable notion.

Commentators writing about reproductive biotechnologies with an ethical orientation often express valid concerns about the prospects of inequitable distribution or eugenic hazards of the anticipated benefits of gene manipulation improvements to health, intelligence, physical beauty but rarely question the ability of the purveyors to deliver on their promises. It can be seen from the foregoing that, as with anyone else trying to sell something, it makes sense to look behind the smoke and mirrors.

Link:
CRISPR Will Never Be Good Enough to Improve People | The ... - Huffington Post

Once research has shown it is safe to do so, human embryos, sperm and eggs could all be genetically manipulated to mend faulty genes which are known to cause serious disease or disability. Photograph: TEK image/Getty Images/Science Photo Library RF

Powerful gene editing procedures could one day be allowed to prevent people from passing on serious medical conditions to their children, according to a major report from senior US researchers.

The cautious endorsement from two of the most prestigious US science institutions means that human embryos, sperm and eggs could all be genetically manipulated to mend faulty genes which are known to cause serious disease or disability, once research has shown it is safe to do so.

The report from the National Academy of Sciences and the National Academy of Medicine says the procedure is highly contentious because any genetic changes that are made are then inherited by the next generation. The technology would therefore cross a line many have viewed as ethically inviolable, it states.

Most scientists agree that far more work is needed before clinical trials of so-called germline therapies can begin in humans. But the report argues that if the procedure is found to be safe and effective in the years ahead, it should not be ruled out in exceptional cases.

We have identified a very strict set of criteria which, if satisfied, could make it permissible to start clinical trials, said Alta Charo, co-chair of the report committee and professor of law and bioethics at the University of WisconsinMadison. While gene editing is unlikely to affect the prevalence of diseases any time soon, it could provide some families with their best hope for having healthy children.

According to the report, human embryos, sperm and eggs should only be considered for gene editing to prevent serious conditions and when no other alternative is available. To go ahead, scientists would have to be confident they could stop a disorder by rewriting the DNA in a faulty gene to make it into a healthy version already found in the population.

The report stresses the need for a stringent oversight system for any such trials to make sure scientists, patients and the broader public understand the risks and benefits, and to come down hard on any clinics that offer treatment for less serious disorders or for human enhancement.

There is an enormous amount of research that has to go into this, and then the question is what are the conditions where youd even consider it, and those are very tightly defined, said Rudolf Jaenisch, a member of the report committee and professor of biology at MIT. It would be conditions where no other options exist to have a healthy baby.

One example is when an adult carries two copies rather than one of the gene that causes Huntingtons disease, a devastating condition that steadily damages nerves in the brain. If that person has children they will inherit at least one copy and will develop the disease. With gene editing, harmful copies could potentially be fixed in the parents sperm or eggs, or in any embryos created through IVF.

Under British law, gene edited embryos, or embryos made with genetically engineered sperm or eggs, cannot be implanted into a woman. The only exception, endorsed by parliament in 2015, is for a procedure called mitochondrial transfer, which aims to prevent women from passing on genetic diseases to their children. In the US, the Food and Drug Administration is currently not allowed to consider applications for germline therapy clinical trials, but the temporary restriction is only in place until April this year.

The national academies report comes at a time when scientists are making spectacular progress in genome editing. With the latest gene editing tool, named Crispr-cas9, scientists can alter single letters of the DNA code, or rewrite whole genes. The technique has given researchers unprecedented insights into the basic biology of development and cancer, but has also been tested in animals as a treatment for a wide range of diseases. Last year, a Chinese group became the first to launch a trial of Crispr-cas9 to treat patients with aggressive lung cancer for whom all other therapies had failed.

In separate research published in Nature Communications on Wednesday, scientists at the University of Washington in Seattle used gene editing to rewrite faulty genes responsible for Duchenne muscular dystrophy in adult mice. Were a long way from clinical application but theres no doubt that the results of this study are exciting, said Darren Griffin, a geneticist at the University of Kent. Other studies reporting progress with different diseases emerge at least every month.

The national academies report goes on to back the use of genome editing to correct faulty genes in adult tissues, such as the liver, lungs and heart, where the changes will not be passed on to children. But while it recommends that the tool is used only to prevent and treat diseases and disabilities, the report points out that in the future, the same interventions could potentially enhance peoples natural abilities. For example, a gene editing therapy that boosts the muscles of patients with muscular dystrophy could perhaps be given to healthy people to give them superhuman strength. We need an ongoing public conversation about how much value we place on some of these so-called enhancements, said Charo. Until we know that, we cant know how to value them against the risks.

Even the academies heavily-caveated endorsement of gene editing will raise fears of a slippery slope that leads to a society of genetic haves and have-nots. But Richard Hynes, a report chair and cancer researcher at MIT, said that regulations could effectively block the use of the tools for enhancement. The slope is not very slippery. Friction is introduced by the regulatory system, he said.

Charo ruled out the use of gene editing to boost peoples intelligence, which is thought to be influenced by hundreds, if not thousands, of genes. We have no idea how to define intelligence, let alone how to manipulate it genetically, Charo said. Its one of the examples that is raised all the time, but its one of the least likely to be relevant, because we dont have a clue how wed do that.

Read more from the original source:
Major report prepares ground for genetic modification of human embryos - The Guardian

Liv Osby , losby@gannett.com Published 4:59 p.m. ET Feb. 16, 2017 | Updated 18 hours ago

Self Regional Hall(Photo: Craig Mahaffey/Clemson University)

A new facility that will house the Clemson University Center for Human Genetics has opened at the Greenwood Genetic Center.

The $6 million 17,000-square-foot structure, named Self Regional Hall, will allowClemsons growing genetics program to collaborate closely withresearchers at the center and to focus on early diagnostic tools for autism, cognitive developmental disorders, cancer and rare metabolic disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disordersand their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements, who has a child with special needs.

As you all know," he added, "an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty, officials said.

GCC director Dr. Steve Skinner said the facilityis the nextstep in a collaboration of more than 20 years.

"We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders, he said.

For more information about GGC, go towww.ggc.org.

Read or Share this story: http://grnol.co/2lcrenp

View original post here:
New research facility opens at Greenwood Genetics Center - Anderson Independent Mail

The Clemson Center for Human Genetics is open on the campus of Greenwood Genetic Center in Greenwood.

The new 17,000-square-foot facility, known as Self Regional Hall, will allow Clemson Universitys genetics program researchers and students to work closely with research teams at GGC, according to a news release. The center will initially focus on discovering and developing early diagnostic tools and therapies for autism, cognitive developmental disorders, oncology and lysosomal disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disorders, and their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements during the opening of the facility on Feb. 15. As the parent of a child with special needs the kind of research that you are doing here is especially meaningful and important to me and my family.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty. Mark Leising, interim dean of the College of Science at Clemson, said the facility provides the resources our scientists need to understand the genetic underpinnings of disorders.

This facility, and its proximity to the Greenwood Genetic Center, elevates our ability to attract the brightest scientific talent to South Carolina and enhances our efforts to tackle genetic disorders, Leising said, in the release.

Read more here:
Human genetics center opens in Greenwood - GSA Business