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Scientist Who Discovered BRCA1 Gene to Give Free Talk on Cancer And Genetics – Noozhawk

By Caitlin O'Hara for UCSB Arts & Lectures | January 15, 2020 | 9:00 a.m.

UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara co-present Understanding Genetics and Cancer, a free community event featuring Mary-Claire King, the scientist who discovered the BRCA1 gene,7:30 p.m. Thurs., Feb. 6, at UCSB Campbell Hall.

King's lecture will be followed by a panel of experts discussing genetics, cancer and you, providing resources and answering pertinent questions

UCSB Arts & Lectures and the Santa Barbara Cancer Foundation will present a free community event Understanding Genetics and Cancer, featuring a lecture by human geneticist Mary-Claire King, the scientist who discovered the BRCA1 gene.

Her talk, at 7:30 p.m. Thursday, Feb. 6, at UCSB Campbell Hall, will be followed by a panel of experts discussing genetics, cancer and you.

King discovered the genetic mutation responsible for breast cancer, a finding that has revolutionized the course of cancer research and transformed the way patients are diagnosed and treated.

A recipient of the National Medal of Science for her bold, imaginative and diverse contributions to medical science and human rights, Dr. King will discuss the genetics of inherited cancers.

Following the talk, a panel of experts will address genetics, cancer and you, including the following topics:

Lifestyle and cancer risk reductionFamily history and ethnicity risk factorsGenetic testing as cancer preventionPrivacy of genetic testing resultsBenefits and perils of ancestry testingLocal resources for cancer risk assessment and counseling

King is American Cancer Society professor in the Department of Medicine and the Department of Genome Sciences at the University of Washington in Seattle. She was the first to show that breast cancer is inherited in some families, as the result of mutations in the gene that she named BRCA1.

In addition to inherited breast and ovarian cancer, her research interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in children, and human genetic diversity and evolution.

King pioneered the use of DNA sequencing for human rights investigations, developing the approach of sequencing mitochondrial DNA preserved in human remains, then applying this method to the identification of kidnapped children in Argentina and subsequently to cases of human rights violations on six continents.

King grew up in Chicago. She received her bachelor's degree cum laude in mathematics from Carleton College in Northfield, Minn.; her doctorate in genetics from the University of California at Berkeley; and her postdoctoral training at UC San Francisco.

Her Ph.D. dissertation with Allan Wilson was the demonstration that protein-coding sequences of humans and chimpanzees are 99 percent identical. She was professor at UC Berkeley from 1976-95 and at the University of Washington in Seattle since 1995.

King has served on multiple councils and study sections of the N.I.H. and the U.S. National Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes Tribunals.

She is past president of the American Society of Human Genetics and a past member of the Council of the National Academy of Sciences. King has been elected to the American Academy of Arts and Sciences, the National Academy of Medicine, American Philosophical Society, and as a foreign member of the French Academy of Sciences.

Understanding Genetics and Cancer is co-presented by UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara in association with Breast Cancer Resource Center, Ridley-Tree Cancer Center at Sansum Clinic, Santa Barbara Neighborhood Clinics and UCSB Department of Molecular, Cellular and Developmental Biology.

Sponsored by the Cancer Foundation of Santa Barbara, supporter of the Ridley-Tree Cancer Center and its Genetic Counseling Program.

For more, call UCSB Arts & Lectures, 805-893-3535 or visit http://www.ArtsAndLectures.UCSB.edu.

UCSB Arts & Lectures acknowledges Community Partners the Natalie Orfalea Foundation & Lou Buglioli and Corporate Season Sponsor SAGE Publishing for their support of the 2019-20 season.

Caitlin O'Hara for UCSB Arts & Lectures.

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Scientist Who Discovered BRCA1 Gene to Give Free Talk on Cancer And Genetics - Noozhawk

Genetic testing firm 23andMe is first to create a drug using its customers’ DNA – The Times

Users pay 100 to the Silicon Valley company 23andme for a breakdown of their ancestryALAMY

The ancestry company 23andme has become the worlds first genetics testing firm to create a drug created from its customers DNA samples.

The Silicon Valley company has developed and sold a drug designed to treat inflammatory diseases such as psoriasis. It is based on its database of around 10 million DNA samples it has collected since it was founded in 2006.

23andme has sold the rights to the drug to the Spanish pharmaceutical company Almirall for an undisclosed sum.

The companys chief executive is Anne Wojcicki, whose sister, Susan, is the chief executive of YouTube and whose ex-husband Sergey Brin is the co-founder of Google.

It is one of several genetics companies that offers home testing kits which allow people to get a breakdown of

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Genetic testing firm 23andMe is first to create a drug using its customers' DNA - The Times

Hackensack Meridian Health Center for Discovery and Innovation to Host Genomic Medicine Symposium – P&T Community

NUTLEY, N.J., Jan. 17, 2020 /PRNewswire/ --Genomic medicine's groundbreaking treatments, and its future promise, will be the focus of a full-day symposium at the Hackensack Meridian Health Center for Discovery and Innovation (CDI) on Wednesday, February 19.

This emerging discipline for tailoring active clinical care and disease prevention to individual patients will be the focus of presentations given by eight experts from medical centers in the U.S.A. and Canada.

"The Genomic Medicine Symposium convenes a diverse group of scientific experts who help serve as a vanguard for precision medicine," said David Perlin, Ph.D., chief scientific officer and vice president of the CDI. "At the Center for Discovery and Innovation, we are working to make genomics a central component of clinical care, and we are delighted to host our peers and partners from other institutions."

"The event is one-of-a-kind," said Benjamin Tycko, M.D., Ph.D., a member of the CDI working in this area, and one of the hosts. "We are bringing together great minds with the hope it will help inform our planning for genomic medicine within Hackensack Meridian Health and inspire further clinical and scientific breakthroughs."

Cancer treatments, neuropsychiatric and behavioral disorders, cardiometabolic conditions, autoimmune disease, infectious disease, and a wide array of pediatric conditions are areas where DNA-based strategies of this type are already employed, and new ones are being tested and refined continually.

The speakers come from diverse medical institutions and will talk about a variety of clinical disorders in which prevention, screening, and treatment can be informed through genomic and epigenomic data.

Among the speakers are: Daniel Auclair, Ph.D., the scientific vice president of the Multiple Myeloma Research Foundation; Joel Gelernter, M.D., Ph.D., Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neuroscience and Director, Division of Human Genetics (Psychiatry) at Yale University; James Knowles, M.D., Ph.D., professor and chair of Cell Biology at SUNY Downstate Medical Center in Brooklyn; Tom Maniatis, Ph.D., the Isidore S. Edelman Professor of Biochemistry and Molecular Biophysics, director of the Columbia Precision Medicine Initiative, and the chief executive officer of the New York Genome Center; Bekim Sadikovic, Ph.D., associate professor and head of the Molecular Diagnostic Division of Pathology and Laboratory Medicine at Western University in Ontario; Helio Pedro, M.D., the section chief of the Center for Genetic and Genomic Medicine at Hackensack University Medical Center; Kevin White, Ph.D., the chief scientific officer of Chicago-based TEMPUS Genetics; and Jean-Pierre Issa, M.D., Ph.D., chief executive officer of the Coriell Research Institute.

The event is complimentary, but registration is required. It will be held from 8 a.m. to 4:30 p.m. at the auditorium of the CDI, located at 111 Ideation Way, Nutley, N.J.

The event counts for continuing medical education (CME) credits, since Hackensack University Medical Center is accredited by the Medical Society of New Jersey to provide continuing medical education for physicians.

Hackensack University Medical Center additionally designates this live activity for a maximum of 7 AMA PRA Category 1 Credit TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

For more information, visit https://www.hackensackmeridianhealth.org/CDIsymposium.

ABOUTHACKENSACKMERIDIAN HEALTH

Hackensack Meridian Health is a leading not-for-profit health care organization that is the largest, most comprehensive and truly integrated health care network in New Jersey, offering a complete range of medical services, innovative research and life-enhancing care.

Hackensack Meridian Health comprises 17 hospitals from Bergen to Ocean counties, which includes three academic medical centers Hackensack University Medical Center in Hackensack, Jersey Shore University Medical Center in Neptune, JFK Medical Center in Edison; two children's hospitals - Joseph M. Sanzari Children's Hospital in Hackensack, K. Hovnanian Children's Hospital in Neptune; nine community hospitals Bayshore Medical Center in Holmdel, Mountainside Medical Center in Montclair, Ocean Medical Center in Brick, Palisades Medical Center in North Bergen, Pascack Valley Medical Center in Westwood, Raritan Bay Medical Center in Old Bridge, Raritan Bay Medical Center in Perth Amboy, Riverview Medical Center in Red Bank, and Southern Ocean Medical Center in Manahawkin; a behavioral health hospital Carrier Clinic in Belle Mead; and two rehabilitation hospitals - JFK Johnson Rehabilitation Institute in Edison and Shore Rehabilitation Institute in Brick.

Additionally, the network has more than 500 patient care locations throughout the state which include ambulatory care centers, surgery centers, home health services, long-term care and assisted living communities, ambulance services, lifesaving air medical transportation, fitness and wellness centers, rehabilitation centers, urgent care centers and physician practice locations. Hackensack Meridian Health has more than 34,100 team members, and 6,500 physicians and is a distinguished leader in health care philanthropy, committed to the health and well-being of the communities it serves.

The network's notable distinctions include having four hospitals among the top 10 in New Jersey by U.S. News and World Report. Other honors include consistently achieving Magnet recognition for nursing excellence from the American Nurses Credentialing Center and being named to Becker's Healthcare's "150 Top Places to Work in Healthcare/2019" list.

The Hackensack Meridian School of Medicine at Seton Hall University, the first private medical school in New Jersey in more than 50 years, welcomed its first class of students in 2018 to its On3 campus in Nutley and Clifton. Additionally, the network partnered with Memorial Sloan Kettering Cancer Center to find more cures for cancer faster while ensuring that patients have access to the highest quality, most individualized cancer care when and where they need it.

Hackensack Meridian Health is a member of AllSpire Health Partners, an interstate consortium of leading health systems, to focus on the sharing of best practices in clinical care and achieving efficiencies.

For additional information, please visit http://www.HackensackMeridianHealth.org.

About the Center for Discovery and Innovation:

The Center for Discovery and Innovation, a newly established member of Hackensack Meridian Health, seeks to translate current innovations in science to improve clinical outcomes for patients with cancer, infectious diseases and other life-threatening and disabling conditions. The CDI, housed in a fully renovated state-of-the-art facility, offers world-class researchers a support infrastructure and culture of discovery that promotes science innovation and rapid translation to the clinic.

View original content to download multimedia:http://www.prnewswire.com/news-releases/hackensack-meridian-health-center-for-discovery-and-innovation-to-host-genomic-medicine-symposium-300989060.html

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Hackensack Meridian Health Center for Discovery and Innovation to Host Genomic Medicine Symposium - P&T Community

Transposons Identified as Likely Cause of Undiagnosed Diseases – The Scientist

When Wellcome Sanger Institute geneticist Eugene Gardner set out to look for a specific type of genetic mutation in a massive database of human DNA, he figured itd be a long shot. Transposonsalso known as jumping genes because they can move around the genomecreate a new mutation in one of every 15 to 40 human births, but thats across the entire 3 billion base pairs of nuclear DNA that each cell carries. The sequencing data that Gardner was working with covered less than two percent of that, with only the protein-coding regions, or exons, included. Doing a quick calculation, he determined that, in the best-case scenario, he could expect to find up to 10 transposon-generated variants linked to a developmental disease. And we really might get zero, he says. This whole thing might be for naught.

But Gardner had recently developed the perfect tool to find the sort of de novo mobile element insertions that come about as a result of transposon movements and are often overlooked in genetic screens and analyses. As a graduate student in Scott Devines lab at the University of Maryland, Baltimores Institute for Genome Sciences, he had spent many hours making the software for the mobile element locator tool he dubbed MELT. The program was easy to use, so when Gardner moved across the Atlantic for a postdoc in Matthew Hurless lab at Sanger near Cambridge and gained access to a database of exomes from 13,000 patients with developmental disorders, he figured running the tool was worth a try.

There is tremendous value for these families that get a diagnosis.

Dan Koboldt, Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Childrens Hospital

Of those 13,000, Gardner focused on 9,738 people in the Deciphering Developmental Disorders (DDD) study whose parents exomes had also been sequenced, making it easier to single out variants present in the child but not in mom and dad. And as it turned out, he did get some hits. MELT picked up 40 potentially transposon-generated variants, which Gardner sat down at his computer to review using the raw sequencing data. Nine appeared to be true de novo mobile element insertions. I remember being in my desk doing the visualization of all the putative de novo variants after I got the first results off the pipeline, he recalls. I remember being excited: I think I might have found a diagnostic de novo!

Discussing the literature on the genes affected by such insertions with clinicians and other colleagues, Gardner narrowed the list down to four insertions found in genes that may be causing or contributing to four different patients disorders. He sent these results off to the physicians who had referred each of the patients to the database, and all the doctors confirmed that the results made sense to them given what had been published on those genes and what they knew about other cases involving patients with mutations in the same sequences. In one case, the physician had already linked the patients disorder to the gene Gardner had identified; in the other three cases, the patients were still undiagnosed.

There is tremendous value for these families that get a diagnosis, says human geneticist Dan Koboldt, who has collaborated with Hurles in the past and has used MELT in his studies of rare disease at the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Childrens Hospital in Columbus, Ohio, but who was not involved in Gardners recent study. A genetic answer not only can help physicians connect patients to appropriate medical and counseling resources; it puts an end to the diagnostic odyssey that families affected by rare disease often endure.

Whats more, the finding of four potentially causative hits out of the nearly 10,000 cases provides first estimate of how commonly such mobile element insertions underlie developmental disorders. Whats interesting about this study is that its taking a very broad approach, says Ian Adams, a developmental biologist at the University of Edinburghs MRC Human Genetics Unit who was not involved in the research. Rather than look for transposon activity in a specific disorder, its casting a much broader net in trying to find what type of diseases this class of mutations could be contributing to.

This approach is important, agrees Adamss MRC Human Genetics Unit colleague Jose Garcia-Perez, a transposable elements expert who was also not involved in the new research. In the last few years, two studies have used a tool developed around the same time as MELT to search for de novo mobile elements in people with autism spectrum disorder, but neither identified any that were likely to be responsible for the patients symptoms. [Gardners] study shows that, no matter whats [been found] recently, its something that should be explored in further detail in the future, says Garcia-Perez. [The study] actually shows a real connection between . . . transposition with that particular [type of] disorder. Koboldt adds: The reason this is an important study is that it establishes [that these] variants do occur and [that] they can be pathogenic.

Gardner says he hopes that his methods can be used to explore other diseases, from both a research and a clinical perspective. Adams says MELT does appear to be widely applicable to other datasets. Such a tool could be a boon to research on transposons, given that their movements are often missed by normal screening tools, Adams adds. I think [MELT is] something that could be readily built into existing pipelines.

Jef Akst is managing editor ofThe Scientist. Email her atjakst@the-scientist.com.

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Transposons Identified as Likely Cause of Undiagnosed Diseases - The Scientist

11 Year-Old Bertrand Might Cant Cry Scientists Have Now Discovered Why – SciTechDaily

11-year-old Bertrand Might (center) surrounded by his family, including his father, Matt Might (second from right), and his mother, Cristina Might (second from left). Credit: The Might family

Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency a rare disorder first described in 2012 lack sufficient water channel proteins called aquaporins. The discovery was published in Cell Reports and may help explain the disorders wide-ranging symptoms including the inability to produce tears, seizures and developmental delays and opens new avenues to find therapies to treat the disorder.

Our findings uncover a new and completely unexpected job for NGLY1, which was originally thought to only cleave sugars from proteins, says Hudson Freeze, Ph.D., director, and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. This new information, which includes the molecular signals NGLY1 uses to drive aquaporin production, fundamentally shifts how we approach drug development. Most immediately, we can begin to screen for existing FDA-approved drugs that may increase aquaporin levels.

Burst cells are shown in orange, and intact cells are shown in blue (the dye used stains the DNA in a nucleus). Unlike normal cells (left), cells missing the NGLY1 protein (right) refused to split open when placed in distilled water. The cells pictured are from mice. Credit: Sanford Burnham Prebys

The first patient with NGLY1 deficiency, then-four-year-old Bertrand Might, was diagnosed in 2012. The condition occurs when both copies of the NGLY1 gene contain mutations. As a result, children with NGLY1 deficiency produce little or no N-glycanase1 a protein that removes sugars from proteins during the cells regular recycling process. Today, approximately 60 people in the world have been identified with NGLY1 deficiency. There is no cure, and existing treatments only address a few of the disorders symptoms.

This discovery is a giant leap forward in our understanding of NGLY1 deficiency and our ability to find a drug for the condition, says Matt Might, Ph.D., Bertrand Mights father and chief scientific officer of NGLY1.org, which funded the research. In addition to exploring new treatment avenues, we can immediately start to test currently available drugs to see if they may help Bertrand and other children living with NGLY1 deficiency.

Because of NGLY1s established role in helping recycle proteins, scientists predicted that cells that lack NGLY1 would fill with unrecycled proteins. However, despite numerous experiments by Freeze and others, this has not been observed.

Hudson Freeze, Ph.D., director and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. Credit: Sanford Burnham Prebys

Mitali Tambe, Ph.D., a postdoctoral associate in the Freeze lab and the first author of the study, set out to shed light on this mystery when she made an unexpected discovery. While normal cells burst open when placed in distilled water, cells from children with an NGLY1 mutation refused to pop open.

At first I thought what every scientist initially thinks: I made a mistake, says Tambe. But this observation actually revealed a previously unknown role for NGLY1 protein.

The unexpected finding prompted the scientists to dig in deeper. In addition to studying skin cells from three children with NGLY1 deficiency, the researchers created human and obtained mouse cells that either lacked NGLY1 or produced excess amounts of the protein. In these studies, they found that cells that lacked the NGLY1 protein had fewer aquaporins proteins that connect the inside and outside of a cell and control water movement and were resistant to bursting open when placed in water. These results were reversed in cells that were given excess levels of NGLY1. The researchers also identified the molecular signals NGLY1 uses to instruct cells to produce aquaporins, proteins called Atf1 and Creb1, which may lead to useful drug targets.

In addition to regulating tear and saliva production, aquaporins are involved in many brain functions, such as cerebrospinal fluid production, explains Tambe. Lack of aquaporins may explain many of the symptoms seen in children who are NGLY1-deficient.

The scientists devised a clever experiment to determine if NGLY1 is regulating aquaporin levels through its expected sugar-removal function or in another manner. They created two cell types that either produced a normal NGLY1 protein or NGLY1 with the sugar-cleaving area disabled. The altered protein successfully altered aquaporin levels indicating that NGLY1 has a second function in addition to its sugar-removing (enzymatic) activities.

Our study shows there is more to NGLY1 than its well-known function of removing sugars from proteins, says Freeze. Together, our findings open important new paths to understanding the pathogenesis of NGLY1 deficiency and ultimately finding treatments.

Reference: N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity by Mitali A. Tambe, Bobby G. Ng and Hudson H. Freeze, 24 December 2019, Cell Reports.DOI: 10.1016/j.celrep.2019.11.097

Research reported in this article was supported by the Bertrand Might Research Fund and NGLY1.org. Additional study authors include Bobby Ng.

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11 Year-Old Bertrand Might Cant Cry Scientists Have Now Discovered Why - SciTechDaily

Do genetic ancestry tests know if you’re Palestinian? A cautionary tale of race and science – ABC News

The personal, the political, and the science of ancestry tests.

Palestinian-American cartoonist and illustrator MargueriteDabaiespat into a test-tube and sent her DNA off to the genetic testing company, 23andMe.

To her surprise the results told her somethingsignificantlydifferent to what she understood about herself and her family.

Then, two years later, 23andMe sent her an update, andthe resultsradicallychanged.

Whats going on? And, with what consequences?Is genomic science way too white?

This is one of your and our favourite Science Friction features from the year for ABC RN's Summer Season.

One of your and our favourite Science Friction programs from 2019 for the RN Summer Season.

GUESTSMargueriteDabaieCartoonist and illustrator, New YorkDr Joanna MountainSenior Director of Research23andMe, USAProfessor SarahTishkoffDavid and LynSilfenUniversity Professor in Genetics and BiologyUniversity of Pennsylvania, USA

FURTHER INFORMATION23andMe doesnt know what makes a PalestinianCartoon by MargueriteDabaie(The Nib, 2019)

23andMes Global Genetics Project

The missing diversity in human genetics studiesGiorgioSirugo, Scott M. Williams, Sarah A.TishkoffCell,177, March212019

Presenter:Natasha Mitchell

Producers:Natasha Mitchell and Jane Lee

Sound engineer:Ariel Gross

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Do genetic ancestry tests know if you're Palestinian? A cautionary tale of race and science - ABC News

Controlling Our Own Evolution: What is the Future of Gene-Editing? – The Globe Post

In November 2018, Chinese biophysics researcher He Jiankuimade a historic announcement.

Two twin girls nicknamed Lulu and Nana had become the worlds first genetically modified human beings.

Using a gene-editing technology known as CRISPR, He had manipulated the DNA of the embryos that would become the girls in an effort to make them immune to the HIV virus.

What first seemed like a historic triumph of science, however, quickly became one of the most infamous scandals in medical history.

The researcher was swiftly fired from his university, put under police investigation, and denounced by experts around the world who said he jumped the gun and carried out an experiment that was unsafe and unethical.

In December, He was sentenced to three years in prison for illegally carrying out human embryo gene-editing intended for reproduction. Its unclear whether the experiment caused any genetic damage to Lulu and Nana or if they are even resistant to the HIV virus.

Kiran Musunuru, one of the worlds foremost genetics researchers, was the first expert to publically condemn Hes experiment.

Nonetheless, Musunuru says the birth of the Chinese twins marks the beginning of a new human era, the possibilities of which are boundless.

Potential future implications of gene-editing technology range from preventing genetic diseases to producing designer babies with custom traits to creating superhumans and controlling our own evolution.

With the release of his new book, The CRISPR Generation: The story of the Worls First Gene-Edited Babies, The Globe Posts Bryan Bowmanspoke to Musunuru about where this technology could go from here and what it could mean for the future of humanity.

The following interview is lightly condensed and edited for length and clarity.

Bowman: Could you explain what CRISPR is broadly and how that technology evolved to where it is today?

Musunuru: CRISPR is one type of gene-editing tool. Gene editing is a technology that allows us to make changes to genes in the DNA and in the cells in the body. If were talking about human beings, typically were talking about changes that are related to health or disease.

There are several types of gene editing tools, but CRISPR is by far the most popular one. CRISPR is interesting because it wasnt invented. It actually exists naturally in all sorts of bacteria. It evolved as a sort of an immune system that can fight off viral infections. Just like we can get viral infections, it turns out bacteria can get viral infections as well. And so bacteria created a system by which they can fight off viruses. So thats where CRISPR came from.

Over the past couple of decades, a variety of very talented scientists identified it, discovered it in bacteria, and then were able to adapt it into a gene-editing tool that can now be used in human cells.

What we can do with CRISPR is either turn off genes and thats easier to do or we can make more precise changes to genes such as correcting a mutation that causes disease.

Bowman: Last year, there was the famous or infamous case where Dr. He Jiankui in China covertly created the first gene-edited babies. And I understand that you were the first expert to publicly condemn the experiment. What exactly did Dr. He do and why did you feel it was so unethical?

Musunuru: What he was trying to do was use CRISPR to turn off a gene called CCR5. By turning off this gene, he was hoping to make the babies that were born resistant to HIV infection, HIV being the virus that causes AIDS.

There are many people who are naturally born with this chain turned off and theyre resistant to HIV. So the rationale was, well, Im going to try to create babies who have the same trait.

What he did was problematic for two reasons. One, it was, to put it lightly, a scientific disaster. Everything you worry about going badly with CRISPR actually did happen. Any technology has a potential for a lot of good with the potential for bad. I compare it to fire. It can be very useful. But if youre not careful, it can cause wildfires and a lot of damage and hurt a lot of people. Its the same with CRISPR. It can do a lot of good. It can help patients who have bad diseases. But if youre irresponsible with it, it could actually cause unintended genetic damage.

Its not clear whether these kids that were born they were twin girls nicknamed Lulu and Nana its not clear whether theyre actually protected against HIV infection. Its not clear whether they might have suffered some genetic damage that might have health consequences for them. Its not clear whether the genetic damage if it did occur could get passed down to their children and affect future generations.

So scientifically, there are a lot of problems with it. The work was very premature. I would say that if we were ever going to do this in a reasonable, rational, safe way, were years away from doing it. But he went ahead and just did it anyway. You can call him a rogue scientist, as clich as it is. And he did it in conditions of secrecy. There was essentially no oversight. And potentially these twins and future generations might suffer the consequences.

The other problem is a problem of ethics. The way in which he did it basically violated every principle of ethical medical research in the textbook. Basically, everything that you could do wrong, he did it wrong.

Whenever we do an experimental procedure, we hope that the benefits greatly outweigh the risks. What he was trying to do was protect these kids from HIV. But the truth is, they were in no particular danger of getting HIV compared to the average person. In China, the prevalence of HIV is about 0.1 percent. So there wasnt really much for them to gain. Even if they did somehow during their lifetime get the HIV infection, we have good treatments to prevent it from proceeding to full-blown AIDS.

So what was the benefit of doing this procedure? You have to balance that against the harms. And the genetic damage thats possible that raises risks of things like cancer and heart disease and other diseases. When you have those risks and very little benefit, then its just not a favorable ratio. And thats intrinsically unethical.

Bowman: Seeing as you said that were years away from doing something like this in a more responsible and ethical way, what are the greatest challenges to getting to a point where parents will have the option to go forth with a gene-editing procedure that might prevent their children from suffering from some kind of genetic disease?

Musunuru: There are really two aspects to this. One is a scientific or medical aspect. Can we get to a place where gene-editing of embryos is well-controlled? Where we know that what were doing is truly safe and appropriate from that perspective?

The second issue is really a decision more for broader society. Is this something that we should be doing, something we want to be doing? This is less about the science and more about ethics and morality and legality and religious values and all sorts of other things. Reasonable people can disagree on whats appropriate and whats not appropriate.What complicates things here is that its not really an all or nothing decision. There are different scenarios where you could see parents using gene-editing on behalf of their unborn children.

I like to break it down is three scenarios. The first scenario is with parents who have medical issues that make it so that theres no way they can have natural biological children or healthy babies if they both have a bad disease and theyre going to pass it on to all of their kids unless you do something like editing. These are unusual situations, but they do exist.

The second scenario is one where parents might want to quite understandably reduce the risk of their child having some serious illness at some point in their lifetime. Im talking about things that are fairly common, like Alzheimers disease or breast cancer or heart disease or whatnot. Theres no guarantee that the editing will eliminate that risk. But you can see how parents might want to stack the odds in their kids favor. Its still medical, but its not perhaps as severe a situation with a kid whos definitely going to get the disease unless you do something.

The third scenario would be cases in which parents want to make changes that are not really medical but are more of what we would think of as enhancements. These could be cosmetic changes like hair color, eye color, things like that.

But it could potentially be much more serious things like intelligence or athletic ability or musical talent. Now, to be fair, thats theoretical. I dont think we are anywhere near knowing enough about how genes influence these things to be able to do it anytime soon. You might actually have to change hundreds of genes in order to make those changes. But you can imagine how certain parents might want to do that, might want to advance their children in the ways that they feel personally are desirable.

Bowman: Can gene editing only be performed on embryos or is it possible to edit genes in later stages of pregnancy or even post-birth?

Musunuru: Theres actually a lot of exciting work going on using gene editing to help patients, whether its adults or children. Right now its been focused mostly on adults who have terrible diseases and its really being used as a treatment to alleviate their suffering or potentially cure the diseases.

Just recently, we got the exciting news that two patients one in the U.S. and one in Europe were participating in a clinical trial. They each had a severe blood disorder. One of them had sickle cell disease. The other had a disease called beta-thalassemia. Earlier this year, they got a CRISPR-based treatment. And whats very exciting is that it looks like not only have their conditions improved significantly, it looks like they might actually be cured.

If that bears out, it would really be historic because these are diseases that affect millions of people around the world and were previously incurable. This treatment is also being explored for things ranging from cancer to liver disease to heart disease.

So theres enormous potential for benefit for living people who have serious diseases. But its a very different situation than editing embryos because youre talking about a person who is in front of you. We are trying to alleviate their suffering. That patient has the ability to freely give consent to the procedure, to weigh the benefits and risks and come up with a decision.

Bowman: How does that work? Is it some kind of cell transplant where the new cells then replicate throughout the rest of the body?

Musunuru: Yeah. It depends on the situation. I mentioned those two patients with the blood disorders. The way it worked there was the medical team used bone marrow stem cells. They basically took bone marrow as if they were going to do a transplant and then edited blood stem cells in a dish outside of the body to fix the genetic problem. And then they took those edited stem cells and put them back into the same patient. Those cells start making the blood cells that are now corrected or repaired. And by doing that, to cure the disease.

Another potential implementation is I work on heart disease. And what wed like to be able to do is turn off cholesterol genes in the liver. So what I envision is that a patient with heart disease would get a single treatment and it would deliver CRISPR into the liver and just the liver. It would turn off genes that produce cholesterol in the liver. The effect of that is permanent reduction of cholesterol levels and lifelong protection against heart disease.

This actually works really well in mice. Ive been working on this in my own laboratory for six, almost seven years now experimenting with it in monkeys. And if looks like it works and Im pretty confident that it will work we could be looking at clinical trials in a few years where were taking patients who have really bad heart disease or a very high risk for heart disease and actually giving them the single treatment within their own bodies that would turn off these cholesterol genes.

Bowman: In terms of more cosmetic applications, theres this popular idea that designer babies will be a reality at some point in the future. But how feasible would it be to use gene-editing for something very basic like choosing eye color or hair color? Are there many genes involved in determining traits like that? Are we close to being able to do that if we choose to?

Musunuru: Well, eye color, hair color, those actually turned out to be fairly simple. Theres only a small number of genes that control those. So in theory, if you wanted to do it, it wouldnt be that difficult.

Personally, my point of view is thats a trivial thing. Like why would you go through all that trouble? Do I care if your kid has blue eyes versus green eyes versus brown eyes? Maybe some parents feel that thats very important. So I think simple things like hair color, like eye color, it could be done fairly readily. I just dont see it as serious enough to warrant doing it.

The more complex things like intelligence, gosh, thats going to be so challenging. I mean, intelligence is just such a complex phenomenon. Theres some genetics involved in it, but there are so many other factors that come into that like upbringing and environment. Were not even getting close to an understanding of how someones intelligence comes about, to be perfectly honest about it.

I will point out that even though some of these things are simpler, in general, the vast majority of people are very, very uncomfortable with the idea of using gene editing of embryos for enhancements.

And I think this reflects a couple of things. I think this reflects the fact that people are more sympathetic if something like this is being used for medical purposes and much less comfortable if its being done to give a child an advantage in a way thats not medical.

It brings to mind the recent scandal where wealthy parents were trying to get their kids into good colleges by actively bribing admissions officers, faking test scores, fabricating resums. That kind of thing makes people very uncomfortable that certain people, particularly wealthy people, might try to use this technology to an extreme to advantage their children.

Theres an economic aspect to that. Wealthy parents might have better access to this technology than those who are not as wealthy. And what does that mean? If wealthy parents are somehow able to make designer babies who somehow are advantaged and other people are not, does that exacerbate socio-economic inequalities in our society?

So I think there are a few reasons why people are uncomfortable with the idea of enhancement, whereas on the whole, the majority seem to be at least somewhat open to the idea that there might be good medical uses.

Bowman: Im really happy that you brought up that socio-economic inequality aspect because I was going to ask you about that. But if we table those concerns for a moment and go way out there, theres this notion you write about that we could ultimately, theoretically, control our own evolution.

Ive heard it suggested that it could be theoretically possible to incorporate traits from other organisms that could be advantageous into our own DNA and essentially enter a new post-human stage of evolution. Is that total science fiction or do you think were entering a period where that is increasingly possible?

Musunuru:Well, with the way things are going with this technology. I mean, weve taken a step towards that. But there are many, many, many, many steps that would need to be taken to actually get to that point. But I think youre right. You see the path. We have the technology. Then its a question of perfecting the technology. A question of learning more about what genes from other species might be advantageous.

The cats out of the bag. The technology is here. Whether its five years from now or 10 years from now or 50 years from now or 100 years from now, these sorts of things will inevitably start to happen. And Im not sure theres much that those who would like to not see that happen will be able to do to stop it in the long run.

China Jails Scientist Who Gene-Edited Babies

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Controlling Our Own Evolution: What is the Future of Gene-Editing? - The Globe Post

There is a new player in adult bone healing – Baylor College of Medicine News

Adult bone repair relies on the activation of bone stem cells, which still remain poorly characterized. Bone stem cells have been found both in the bone marrow and in the outer layer of tissue, called periosteum, that envelopes the bone. Of the two, periosteal stem cells are the least understood.

Having a better understanding of how adult bones heal could reveal new ways of repair fractures faster and help find novel treatments for osteoporosis. Dr. Dongsu Park and his colleagues at Baylor College of Medicine investigate adult bone healing and recently uncovered a new mechanism that has potential therapeutic applications.

Previous studies have shown that bone marrow and periosteal stem cells, although they share many characteristics, also have unique functions and specific regulatory mechanisms, said Park, who is assistant professor of molecular and human genetics and of pathology and immunology at Baylor.

It is known that these two types of bone stem cells comprise a heterogeneous population that can contribute to bone thickness, shaping and fracture repair, but scientists had not been able to distinguish between different subtypes of bone stem cells and study how their different functions are regulated.

In the current study, Park and his colleagues developed a method to identify different subpopulations of periosteal stem cells, define their contribution to bone fracture repair in live mouse models and identify specific factors that regulate their migration and proliferation under physiological conditions.

The researchers discovered specific markers for periosteal stem cells in mice. The markers identified a distinct subset of stem cells that showed to be a part of life-long adult bone regeneration.

We also found that periosteal stem cells respond to mechanical injury by engaging in bone healing, Park said. They are important for healing bone fractures in the adult mice and, interestingly, they contribute more to bone regeneration than bone marrow stem cells do.

In addition, the researchers found that periosteal stem cells also respond to inflammatory molecules called chemokines, which are usually produced during bone injury. In particular, they responded to chemokine CCL5.

Periosteal stem cells have receptors molecules on their cell surface called CCR5 that bind to CCL5, which sends a signal to the cells to migrate toward the injured bone and repair it. Deleting the CCL5 or the CCR5 gene in mouse models resulted in marked defects or delayed healing. When the researchers supplied CCL5 to CCL5-deficient mice, bone healing was accelerated.

The findings suggested potential therapeutic applications. For instance, in individuals with diabetes or osteoporosis in which bone healing is slow and may lead to other complications resulting from limited mobility, accelerating bone healing may reduce hospital stay and improve prognosis.

Our findings contribute to a better understanding of how adult bones heal. We think this is one of the first studies to show that bone stem cells are heterogeneous, and that different subtypes have unique properties regulated by specific mechanisms, Park said. We have identified markers that enable us to tell bone stem cell subtypes apart and study what each subtype contributes to bone health. Understanding how bone stem cell functions are regulated offers the possibility to develop novel therapeutic strategies to treat adult bone injuries.

Find all the details of this study in the journal journal Cell Stem Cell.

Other contributors to this work include Laura C. Ortinau, Hamilton Wang, Kevin Lei, Lorenzo Deveza, Youngjae Jeong, Yannis Hara, Ingo Grafe, Scott Rosenfeld, Dongjun Lee, Brendan Lee and David T. Scadden. The authors are affiliated with one of the following institutions: Baylor College of Medicine, Texas Childrens Hospital, Pusan National University School of Medicine and Harvard University.

This study was supported by the Bone Disease Program of Texas Award and The CarolineWiess Law Fund Award, the NIAMS of the National Institutes of Health under award numbers 1K01AR061434 and 1R01AR072018 and U54 AR068069 and the NIDDK of the NIH.

By Ana Mara Rodrguez, Ph.D.

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There is a new player in adult bone healing - Baylor College of Medicine News

Air Pollution, Evolution, and the Fate of Billions of Humans – The New York Times

The threat of air pollution grabs our attention when we see it for example, the tendrils of smoke of Australian brush fires, now visible from space, or the poisonous soup of smog that descends on cities like New Delhi in the winter.

But polluted air also harms billions of people on a continuing basis. Outdoors, we breathe in toxins delivered by car traffic, coal-fired plants and oil refineries. Indoor fires for heat and cooking taint the air for billions of people in poor countries. Over a billion people add toxins to their lungs by smoking cigarettes and more recently, by vaping.

Ninety-two percent of the worlds people live in places where fine particulate matter the very small particles most dangerous to human tissues exceeds the World Health Organizations guideline for healthy air. Air pollution and tobacco together are responsible for up to 20 million premature deaths each year.

Airborne toxins damage us in a staggering number of ways. Along with well-established links to lung cancer and heart disease, researchers are now finding new connections to disorders such as diabetes and Alzheimers disease.

Scientists are still figuring out how air pollution causes these ailments. They are also puzzling over the apparent resilience that some people have to this modern onslaught.

Some researchers now argue that the answers to these questions lie in our distant evolutionary past, millions of years before the first cigarette was lit and the first car hit the road.

Our ancestors were bedeviled by airborne toxins even as bipedal apes walking the African savanna, argued Benjamin Trumble, a biologist at Arizona State University, and Caleb Finch of the University of Southern California, in the December issue of the Quarterly Review of Biology.

Our forebears evolved defenses against these pollutants, the scientists propose. Today, those adaptations may provide protection, albeit limited, against tobacco smoke and other airborne threats.

But our evolutionary legacy may also be a burden, Dr. Trumble and Dr. Finch speculated. Some genetic adaptations may have increased our vulnerability to diseases linked to air pollution.

It is a really creative, interesting contribution to evolutionary medicine, said Molly Fox, an anthropologist at the University of California, Los Angeles, who was not involved in the new study.

The story begins about seven million years ago. Africa at the time was gradually growing more arid. The Sahara emerged in northern Africa, while grasslands opened up in eastern and southern Africa.

The ancestors of chimpanzees and gorillas remained in the retreating forests, but our ancient relatives adapted to the new environments. They evolved into a tall, slender frame well suited to walking and running long distances.

Dr. Finch and Dr. Trumble believe that early humans faced another challenge that has gone largely overlooked: the air.

Periodically, the savanna would have experienced heavy dust storms from the Sahara, and our distant ancestors may have risked harm to their lungs from breathing in the silica-rich particles.

When the dust is up, were going to see more pulmonary problems, Dr. Finch said. Even today, Greek researchers have found that when Sahara winds reach their country, patients surge into hospitals with respiratory complaints.

The dense foliage of tropical forests gave chimpanzees and gorillas a refuge from dust. But the earliest humans, wandering the open grasslands, had nowhere to hide.

Dust was not the only hazard. The lungs of early humans also may have been irritated by the high levels of pollen and particles of fecal matter produced by the savannas vast herds of grazing animals.

Dr. Finch and Dr. Trumble maintain that scientists should consider whether these new challenges altered our biology through natural selection. Is it possible, for instance, that people who are resilient to cigarette smoke have inherited genetic variants that protected their distant ancestors from cave fires?

One way to answer these questions is to look at genes that have evolved significantly since our ancestors moved out of the forests.

One of them is MARCO, which provides the blueprint for production of a molecular hook used by immune cells in our lungs. The cells use this hook to clear away both bacteria and particles, including silica dust.

The human version of the MARCO gene is distinctively different from that of other apes. That transformation happened at least half a million years ago. (Neanderthals carried the variant, too.) Breathing dusty air drove the evolution of MARCO in our savanna-walking ancestors, Dr. Finch and Dr. Trumble hypothesize.

Later, our ancestors added to airborne threats by mastering fire. As they lingered near hearths to cook food, stay warm or keep away from insects, they breathed in smoke. Once early humans began building shelters, the environment became more harmful to their lungs.

Most traditional people live in a highly smoky environment, Dr. Finch said. I think it has been a fact of human living for us even before our species.

Smoke created a new evolutionary pressure, he and Dr. Trumble believe. Humans evolved powerful liver enzymes, for example, to break down toxins passing into the bloodstream from the lungs.

Gary Perdew, a molecular toxicologist at Penn State University, and his colleagues have found evidence of smoke-driven evolution in another gene, AHR.

This gene makes a protein found on cells in the gut, lungs and skin. When toxins get snagged on the protein, cells release enzymes that break down the poisons.

Other mammals use AHR to detoxify their food. But the protein is also effective against some of the compounds in wood smoke.

Compared to other species, the human version produces a weaker response to toxins, perhaps because AHR protein is not the perfect protector the fragments it leaves behind can cause tissue damage.

Before fire, our ancestors did not need to use AHR very often; in theory, their bodies could tolerate the limited damage the protein caused.

But when we began breathing smoke regularly and needing the AHR protein constantly, the gene might have become dangerous to our health.

Dr. Perdew believes that humans evolved a weaker AHR response as a way to find a sweet spot, a compromise that minimized the damage of airborne pollutants without causing too many side effects.

These adaptations were never perfect, as evidenced by the fact that millions of people still die today from indoor air pollution. But evolution doesnt seek perfect health.

All that matters from an evolutionary standpoint is that you reproduce, Dr. Perdew said. If you die in your forties, so what? Its kind of a cold, heartless way to think about it, but it is what it is.

Our species arrived at the Industrial Revolution two centuries ago with bodies that had been shaped for millions of years by this highly imperfect process.

Clean water, improved medicines and other innovations drastically reduced deaths from infectious diseases. The average life expectancy shot up. But our exposure to airborne toxins also increased.

If we compressed the last five million years into a single year, it wouldnt be until Dec. 31, 11:40 p.m., that the Industrial Revolution begins, Dr. Trumble said. We are living in just the tiniest little blip of human existence, yet we think everything around us is whats normal.

The Industrial Revolution was powered largely by coal, and people began breathing the fumes. Cars became ubiquitous; power plants and oil refineries spread. Tobacco companies made cigarettes on an industrial scale. Today, they sell 6.5 trillion cigarettes every year.

Our bodies responded with defenses honed over hundreds of thousands of years. One of their most potent responses was inflammation. But instead of brief bursts of inflammation, many people began to experience it constantly.

Many studies now suggest that chronic inflammation represents an important link between airborne toxins and disease. In the brain, for example, chronic inflammation may impair our ability to clear up defective proteins. As those proteins accumulate, they may lead to dementia.

Pathogens can hitch a ride on particles of pollutants. When they get in our noses, they can make contact with nerve endings. There, they can trigger even more inflammation.

They provide this highway thats a direct route to the brain, Dr. Fox, of the University of California, Los Angeles, said. I think thats what makes this a particularly scary story.

Some genetic variants that arose in our smoky past may offer some help now. They might allow some people to live long despite smoking, Dr. Finch and Dr. Trumble suggest.

But the researchers have studied another gene for which the opposite seems to be true: a variant that was once helpful has become harmful in an age of rising air pollution.

The variant, ApoE4, first came to light because it drastically raises the risk of developing Alzheimers disease. More recently, researchers have also discovered that ApoE4 increases the risk that exposure to air pollution leads to dementia.

But these studies were restricted to industrialized countries. When researchers looked to other societies such as farmers in poor villages in Ghana, or indigenous forest-dwellers in Bolivia ApoE4 had a very different effect.

In these societies, infectious diseases remain a major cause of death, especially in children. Researchers have found that in such places, ApoE4 increases the odds that people will survive to adulthood and have children.

Natural selection may have favored ApoE4 for hundreds of thousands of years because of this ability to increase survival. But this gene and others may have had harmful side effects that remained invisible until the sooty, smoky modern age.

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Air Pollution, Evolution, and the Fate of Billions of Humans - The New York Times

A New York Times column on ‘Jewish genius’ draws criticism for linking to a debunked University of Utah study – Salt Lake Tribune

When it was first published last week, a controversial New York Times column about the secrets of Jewish genius linked to a 2005 study from a researcher labeled an extremist, revered by white supremacists and discredited by scientists and who, for years, worked as a distinguished professor at the University of Utah.

Citing the late U. anthropologist Henry Harpending, expectedly, touched off criticism. Hours after it appeared online, The Times commentary was updated with an editors note saying it had been a mistake to mention the study, which has been widely questioned and long seen as an argument of racial superiority.

The note suggests that conservative columnist Bret Stephens did not know that Harpending promoted racist ideas. It also says Stephens was not endorsing the study or its authors views but acknowledges that his reference to the research, nevertheless, left an impression with many readers that Mr. Stephens was arguing that Jews are genetically superior. That was not his intent.

The paragraph Stephens wrote about Harpendings research has since been deleted online. And on Friday, the University of Utah deleted a complimentary memorial post from its Department of Anthropology that had said Harpendings scholarly and personal footprint will be long lasting in the field.

The U. also noted in response to the column that none of the three authors of the paper Harpending, Gregory Cochran or then-student Jason Hardy work at the school any longer. Harpending was there from 1997 until he died of a stroke in 2016.

Statements attributed to Henry Harpending that promote ideas in line with white nationalist ideology stand in direct opposition to the University of Utahs values of equity, diversity and inclusion ... " said Annalisa Purser, the universitys spokeswoman.

As such, we will meet these words with ours: Racist views and rhetoric that position one race as superior to another are inaccurate and harmful," she said. "The University of Utah is bolstered by its diversity, which allows individuals from different backgrounds and perspectives to come together to address challenges in new and creative ways.

Neither Cochran nor Hardy could not be reached by The Salt Lake Tribune for comment. Its unclear why none of the researchers faced censure while at the university for publishing the piece, though Purser added, Speech even when it is racist is protected by the U.S. Constitution and is necessary for the free exchange of ideas.

This has been a very painful time already for Jews in the United States, said Amy Spiro, a Jewish journalist whose work has been published in Variety, Jewish Insider and The Jerusalem Post. And then this column came out, she told The Tribune in a phone interview. Its just generated a lot of controversy. It doesnt seem like this is helpful in any way.

In their disputed study, the U. researchers focused on Ashkenazi Jews, or those who settled in central and Eastern Europe (as opposed to Spain or the Middle East). Among supremacists, the group is often seen as pure because many are white.

Harpending, Cochran and Hardy argue that Ashkenazi Jews have higher IQs, on average, than the general public (including other non-Ashkenazi Jews). Their theory is that in medieval times, individuals in the faith group in Europe were pushed into finance jobs because of the Christian prohibition of usury, or lending money for interest. Over time, many became rich and had more surviving children than poorer families who worked on farms. They also married within the community and stayed fairly isolated.

The University of Utah has long been known as an expert in genetic research, but this paper Natural History of Ashkenazi Intelligence is typically seen as a low point in that expertise. The authors created their own algorithm for determining genetic makeup and cited several scientists also viewed as racist.

The researchers have been criticized on and off since the study came out in 2005 and was published in The Journal of Biosocial Science the next year; that publication was previously called The Eugenics Review up until the 1970s. Eugenics is the controversial pseudo-science popular among Nazis for improving the human race by forced sterilization of poor people.

The Times piece on the study was largely uncritical beyond that; it was written by reporter Nicholas Wade, who later wrote his own book on genetics that shares some ideas with Harpending and Cochran. (Cochran had previously written about incorrect claims that being gay was caused by an infectious disease.)

The head of New York Universitys human-genetics program said: Its bad science not because its provocative, but because its bad genetics and bad epidemiology.

In a 2007 press release about later research by Harpending, the school acknowledged his 2005 paper had created a stir and that critics had questioned the quality of the science.

Harpending continued to speak, though, including at white supremacist conferences, about his also inaccurate ideas that black people are genetically prone to be lazy. His profile on the Southern Poverty Law Centers page lists him as a white nationalist and an extremist who believed in eugenics.

In other words, as an anthropologist looking around the world, he said in 2009 at the Preserving Western Civilization conference, what I see is that men work and produce things when theyre forced into it, and when theyre not, they quit. And Im thinking about, you know tribes in central Africa, but you know its true in Baltimore too, right?

His obituary noted he came to Utah from Pennsylvania State University after earning his doctorate at Harvard.

Stephens, who is Jewish, ultimately argues in his column that theres a cultural not genetic explanation for Jewish genius, stemming from Judaisms religious tradition of encouraging believers to not only observe and obey but also discuss and disagree. He also believes group members became more innovative and creative by typically being in the minority wherever theyve lived.

His original mention of the study read: The common answer is that Jews are, or tend to be, smart. When it comes to Ashkenazi Jews, its true. Ashkenazi Jews have the highest average I.Q. of any ethnic group for which there are reliable data, noted one 2005 paper. During the 20th century, they made up about 3 percent of the U.S. population but won 27 percent of the U.S. Nobel science prizes and 25 percent of the ACM Turing awards. They account for more than half of world chess champions.

That data on awards is not technically wrong, though it broadly counts anyone as Jewish who has a grandparent with ancestry in the faith.

Stephens mentioned Albert Einstein and Franz Kafka and Karl Marx as prime examples of Jewish intelligence, before asking: How is it that a people who never amounted to even one-third of 1 percent of the worlds population contributed so seminally to so many of its most pathbreaking ideas and innovations?

His use of the paper is just stunning, Kennedy told The Tribune, saying the study was obviously a main tenet of Stephens argument, and not a minor point, like the editors note suggests. I think it should have been killed before it ever got published.

In the later edits, all references to Ashkenazi Jews (which also appeared in two other places in the column) were removed. Many have questioned why Stephens referred to Ashkenazi Jews at all if he didnt agree with the paper and was generally talking about Jewish culture, and not superiority.

What was even the point of the column? Spiro asked. Its confusing.

Stephens joined The Times in 2017, after winning a Pulitzer Prize for his work at The Wall Street Journal in 2013 and serving as editor in chief of The Jerusalem Post. He has previously come under fire for bullying a professor who called him a bedbug.

Some have called for his resignation, particularly liberal readers who disagree with his more conservative pieces, but Kennedy believes the Jewish genius piece is a new low. The associate professor, who teaches ethics in journalism at Northeastern, said the commentary needed more than an editors note about the concerns raised.

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A New York Times column on 'Jewish genius' draws criticism for linking to a debunked University of Utah study - Salt Lake Tribune

Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows – Gaucher Disease News

Treatment with ambroxol a medication used to treat respiratory conditions associated with excessive mucus reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old girl with Gaucher disease (GD) type 1, a case study shows.

Titled Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease, the case study was published in the Journal of Human Genetics.

Mutations in the GBA gene in people with Gaucher alter the formation of the beta-glucocerebrosidase enzyme, which in turn leads to the toxic buildup of a lipid (fat) called glucocerebroside in the spleen, liver, lung, bone, and brain cells.

Ambroxol, an available cough and cold medicine, is known to boost beta-glucocerebrosidase activity. It works as a chaperone therapy, a type of small molecule that binds to faulty enzymes and helps them fold properly. High-dose oral ambroxol also has shown promise in easing the neurological symptoms of patients with GD type 3.

Enzyme replacement therapy (ERT) has been the mainstay treatment for people with GD type 1. It has led to significant improvements in complications such as the abnormal enlargement of abdominal organs, called hepatosplenomegaly, and blood disorders. However, it has shown limited efficacy to the progressive skeletal manifestations in GD, the researchers said.

A team from China now described the case of a 5-year-old girl with complaints of severe pain in both legs, which restrained her from walking independently. According to her parents, the child had intermittent GD-related bone crises over two years. These were worse in the winter and eased upon several days of rest.

Clinical examination revealed enlargement of the girls spleen and liver. Imaging showed that both femurs, or thighbones, had aseptic necrosis, meaning that the bone tissue had died due to lack of blood supply. Aseptic necrosis is a well-known skeletal complication in GD.

Results of abone marrow biopsy and a measurement of beta-glucocerebrosidase activity levels were consistent with a diagnosis of GD. Genetic testing showed the girl had two distinct mutations in the GBA gene.

Given her age and manifestations, ERT and substrate reduction therapy were both contraindicated. After obtaining parental consent, doctors enrolled the patient in a compassionate use clinical protocol for ambroxol.

The girl received up to 15 mg/kg of daily ambroxol for three years without any side effects. No further bone crisis was seen after treatment initiation. Importantly, ambroxol reduced liver and spleen volume, and slightly increased white and red blood cell counts after two years.

In addition, disease severity gradually decreased after almost three years, as measured by the blood activity of chitotriosidase, a GD biomarker.

Annual imaging also showed a reversal of damage in the top part of the girls femurs, allowing the near-normal growth of the femoral heads.

Cellular assays revealed increased activity of beta-glucocerebrosidase in the patients lymphocytes, a type of white blood cell. The scientists suggested that ambroxols small size might contribute to its efficient penetration into bone tissue as indicated by the observed skeletal improvements.

In conclusion, this is the first report describing the therapeutic effects of oral ABX [ambroxol] on the bone and hematological manifestations of a child with an established [GD1], the scientists said.

Randomized and controlled clinical trials are necessary to further assess and confirm these findings, they added.

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

Total Posts: 24

Jos is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimers disease.

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Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows - Gaucher Disease News

Gene editing breakthroughs that cured genetic diseases in 2019 – The Star Online

IN the summer of 2019, a mother in Nashville, Tennessee in the United States, with a seemingly incurable genetic disorder finally found an end to her suffering by editing her genome.

Victoria Grays recovery from sickle cell disease, which had caused her painful seizures, came in a year of breakthroughs in one of the hottest areas of medical research gene therapy.

I have hoped for a cure since I was about 11, the 34-year-old said.

Since I received the new cells, I have been able to enjoy more time with my family without worrying about pain or an out-of-the-blue emergency.

Over several weeks, Grays blood was drawn so that doctors could get to the cause of her illness stem cells from her bone marrow that were making deformed red blood cells.

The stem cells were sent to a Scottish laboratory, where their DNA was modified using Crispr/Cas9 pronounced Crisper a new tool informally known as a molecular scissors.

The genetically-edited cells were transfused back into Grays veins and bone marrow. A month later, she was producing normal blood cells.

Medics warn that caution is necessary, but theoretically, she has been cured.

This is one patient. This is early results. We need to see how it works out in other patients, said her doctor, Haydar Frangoul, at the Sarah Cannon Research Institute in Nashville.

But these results are really exciting.

In Germany, a 19-year-old woman was treated with a similar method for a different blood disease beta thalassemia.

She had previously needed 16 blood transfusions per year. Nine months later, she is completely free of that burden.

For decades, the DNA of living organisms such as corn and salmon has been modified. But Crispr, invented in 2012, made gene editing more widely accessible.

It is much simpler than preceding technology, cheaper and easy to use in small labs.

The technique has given new impetus to the perennial debate over the wisdom of humanity manipulating life itself.

Its all developing very quickly, said French geneticist Emmanuelle Charpentier, one of Crisprs inventors and the co-founder of Crispr Therapeutics, the biotech company conducting the clinical trials involving Gray and the German patient.

Gene cures

Crispr was the latest breakthrough in a year of great strides in gene therapy, a medical adventure that started three decades ago, when the first TV telethons were raising money for children with muscular dystrophy.

Scientists practising the technique insert a normal gene into cells containing a defective gene.

It does the work the original could not, such as making normal red blood cells in Grays case or making tumour-killing super white blood cells for a cancer patient.

Crispr goes even further: instead of adding a gene, the tool edits the genome itself.

After decades of research and clinical trials on a genetic fix to genetic disorders, 2019 saw a historic milestone: approval to bring to market the first gene therapies for a neuromuscular disease in the US and a blood disease in the European Union.

They join several other gene therapies bringing the total to eight approved in recent years to treat certain cancers and an inherited blindness.

Serge Braun, the scientific director of the French Muscular Dystrophy Association, sees 2019 as a turning point that will lead to a medical revolution.

Twenty-five, 30 years, thats the time it had to take, he said. It took a generation for gene therapy to become a reality. Now, its only going to go faster.

Just outside Washington, at the US National Institutes of Health (NIH), researchers are also celebrating a breakthrough period.

We have hit an inflection point, said US NIHs associate director for science policy Carrie Wolinetz.

These therapies are exorbitantly expensive, however, costing up to US$2 million (RM8.18 million) meaning patients face grueling negotiations with their insurance companies.

They also involve a complex regimen of procedures that are only available in wealthy countries.

Gray spent months in hospital getting blood drawn, undergoing chemotherapy, having edited stem cells reintroduced via transfusion and fighting a general infection.

You cannot do this in a community hospital close to home, said her doctor.

However, the number of approved gene therapies will increase to about 40 by 2022, according to Massachusetts Institute of Technology (MIT) researchers.

They will mostly target cancers and diseases that affect muscles, the eyes and the nervous system.

In this Oct 10, 2018, photo, He speaks during an interview at his laboratory in Shenzhen, China. The scientist was recently sentenced to three years in prison for practicing medicine illegally and fined 3 million yuan (RM1.76 million). AP

Bioterrorism potential

Another problem with Crispr is that its relative simplicity has triggered the imaginations of rogue practitioners who dont necessarily share the medical ethics of Western medicine.

In 2018 in China, scientist He Jiankui triggered an international scandal and his excommunication from the scientific community when he used Crispr to create what he called the first gene-edited humans.

The biophysicist said he had altered the DNA (deoxyribonucleic acid) of human embryos that became twin girls Lulu and Nana.

His goal was to create a mutation that would prevent the girls from contracting HIV (human immunodeficiency virus), even though there was no specific reason to put them through the process.

That technology is not safe, said Kiran Musunuru, a genetics professor at the University of Pennsylvania, explaining that the Crispr scissors often cut next to the targeted gene, causing unexpected mutations.

Its very easy to do if you dont care about the consequences, he added.

Despite the ethical pitfalls, restraint seems mainly to have prevailed so far.

The community is keeping a close eye on Russia, where biologist Denis Rebrikov has said he wants to use Crispr to help deaf parents have children without the disability.

There is also the temptation to genetically edit entire animal species, e.g. malaria-causing mosquitoes in Burkina Faso or mice hosting ticks that carry Lyme disease in the US.

The researchers in charge of those projects are advancing carefully however, fully aware of the unpredictability of chain reactions on the ecosystem.

Charpentier doesnt believe in the more dystopian scenarios predicted for gene therapy, including American biohackers injecting themselves with Crispr technology bought online.

Not everyone is a biologist or scientist, she said.

And the possibility of military hijacking to create soldier-killing viruses or bacteria that would ravage enemies crops?

Charpentier thinks that technology generally tends to be used for the better.

Im a bacteriologist -- weve been talking about bioterrorism for years, she said. Nothing has ever happened. AFP Relaxnews

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Gene editing breakthroughs that cured genetic diseases in 2019 - The Star Online

Digid8 and the Emergence of DNA Matchmaking – Study Breaks

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Dating apps such as Tinder, Bumbleand Plenty of Fish (POF) are changing dating patterns and habits. Instead of traditional ways of courtship, individuals are meeting others online. Today, millions of users download such apps to connect with other singles. Matching on these apps rely on an algorithm, in which a score is assigned to each user. This score depends on the number of swipes or likes received. People with similar scores are matched together.

However, if that wasnt enough, imagine if a dating app was to determine matching based on each persons genetics. Harvard geneticist George Church announced that he has decided to partner with Barghavi Govindarajans digid8 to create a DNA-based dating app. The products end goal is to avoid the births of people who could inherit severe genetic diseases. Matches are determined by whether individuals are dominant or recessive carriers of certain genes. Incompatible or screened-out matches are those that, in the event of pregnancy between the two people, would result in severe illnesses that could lead to premature death and strenuous pain for the offspring. Approximately 5% of the matches would be ruled out, but according to Church, about 7,000 genetic diseases such as Tay-Sachs disease, cystic fibrosis, sickle cell anemia and thalassemia would be eliminated by using digiD8. This would lead to huge savings in medical costs and expenses. It would also play a significant role in affecting health and longevity in the long run.

After Churchs 60 Minutes appearance, many are outraged about the potential harms of digiD8. Many liken his idea to eugenics, a set of beliefs that promotes the improvement of the genetic quality of the human population through means of forced sterilization, breeding and extermination. This ideology was ultimately promoted by the Nazis to create a pure Aryan race. Fordham ethics professor Elizabeth Yuko claims that by having a DNA-based app, humans would be classified into a group of acceptables and another that was classified as the others. A slippery slope would emerge as trans people, people of certain races, along with the disabled and chronically sick would be further socially stigmatized. They would be targeted for being different and diversity would be reduced. Standards of perfection would also be imposed, instead of accepting the beauty in human flaws and the uniqueness in individuals appearances.

Despite that, Church claims that the app had no intentions of trying to categorize certain individuals as inferior, and that unlike eugenics, which was forced on different human beings, the app will rely on its users consent.

Like other forms of tech, there are additional concerns regarding privacy and data security. Many are unsure if the company would misuse the results for their own economic gain. App developers could utilize genetic research about complex traits to program the app for their own purposes. The data could also be sold to biomedical companies and firms without informing users.

Another valid concern pertains to data protection, as many DNA testing companies such as MyHeritage Ancestry have faced scrutiny for data breaches. The usernames, passwords, emails and account information of over 92 million users were compromised. Thankfully, no actual genetic data was leaked. If information about peoples DNA and genes were leaked, hackers could profit illegally from selling and copying genetic code, as well as individuals health histories. In the FAQ for the app, Church has stated that the app would rely on encryption and blockchain to keep the data safe.

The app is still a work in progress. When digiD8 is finally released, it will be interesting to see how people respond to it. There are some who might be interested in finding love based on genetics. Others who are less interested about reproduction might overlook such an app. Pending research would have to be done to observe the correlation between love and DNA.

Besides that, its important to observe how law will respond to this technological catalyst. How will laws address issues that arise from the dating app?

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Digid8 and the Emergence of DNA Matchmaking - Study Breaks

The Face of Science – Clemson World magazine

That next day, Drake preferred sleeping over eating. But then, thats common with newborns. Tarah and Eric would wake him for feeding, careful to make sure he got plenty of nourishment.

By Saturday, these experienced parents became uneasy. Drake was just too lethargic. It was harder to wake him for feedings. The OSullivans called Drakes doctor and were assured there was nothing to be concerned about; Drake had been healthy when he left the hospital two days ago. And, the doctors office assured them, they would be checking him again on Monday at a scheduled office visit.

But the OSullivans disquiet grew by the hour. By Sunday evening, Drake would not open his eyes or respond to them. He was growing limp and struggling to breathe. The OSullivans rushed Drake to the hospital where the staff flew into emergency mode. Too sick for care at the local hospital, Drake was stabilized for transport to the pediatric intensive care unit (PICU) at Greenville Memorial Hospital. Just 72 hours after birth, Drake lapsed into a coma. And no one knew why.

That unforgettable night was the beginning of a long journey of test after test and a diagnosis by elimination.

Drake continued to decline as each negative test pushed aside another horrible possibility. You would think that eliminating terrible diseases would be a good thing, says Eric. But that just meant we were looking at something very rare.

Finally, blood tests revealed an ever-elevating level of glycine in Drakes blood, a symptom of an extremely rare, genetic metabolic disease called nonketotic hyperglycinemia or NKH.

The words nonketotic hyperglycinemia meant nothing to Tarah and Eric. But the next words were clear: Drake had a less than 10 percent chance of survival.

The diagnosis was like a starters pistol for the OSullivans. From that moment, everything would be a race against time to save Drake.

After 28 days of tests, monitors, tubes and wires, Drake was released to go home. There, as Tarah explains, Our house became a sort of lab. There were blood tests, feedings, medications and monitoring day and night, 24/7. Glycine became the OSullivans obsession as they tried desperately through medication and diet to moderate Drakes levels. They began to search for information, research, treatment, medical advice anything to save his life.

The OSullivans contacted anyone who might know about NKH, have a related research project or could tell them more. They learned that NKH affects fewer than 500 people worldwide and has no cure. There was no research underway, and no funding for research. And because there is no medically recognized cure for NKH, all treatments are considered experimental and not covered by medical insurance. Period.

So Tarah became a lay scientist. She read everything, called and emailed medical researchers and established the Drake Rayden Foundation to raise awareness for NKH, fight for better treatment and support research. She entered a world of genetics and vectors, glycine and metabolic pathways. Tarah had quit college just shy of completing her business degree. Now she desperately needed the scientific expertise that would help her understand the disease and find the cure.

Tarah decided to return to college.

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The Face of Science - Clemson World magazine

Etched in DNA: Decoding the secrets of the past – Christian Science Monitor

The study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

A decade ago, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. Their findings ushered in a new decade of discovery and understanding. The sequence was not only a marvel of new technology; it shed light on a debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.Paleogeneticists are also digging into ancient genomes looking for biological answers to those questions.

But piecing together a fuller story will take a multidisciplinary approach.Im done with who questions, says archaeology professor John Shea. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how.

Human origins research. The phrase probably evokes an image of dusty scientists hunched over in the sun, combing the ground for scraps left behind by people of millennia past. The field has long been the realm of stones and bones, with test tube-filled laboratories playing second fiddle.

But thats changing. Paleoanthropology has found a second home in the lab, as geneticists have joined the field, extracting DNA from fossils in search of new insights into early human history.

Its white coat science, says John Shea, a professor of archaeology at Stony Brook University. Its not bluejeans and khaki shirt science.

Over the past decade, the study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

I cant tell you how many times Ive had to rewrite lectures because of new paleogenetics revelations, says Jennifer Raff, an anthropological geneticist at the University of Kansas. I cant wait to see what the next decade brings.

Ancient DNA, or aDNA, was just beginning to catch on when Dr. Raff finished her dual Ph.D. in anthropology and genetics in 2008. Fragments of ancient genomes were being sequenced, analyzed, and discussed. But Dr. Raff was unsure if science could ever recover full genomes from long back in time.

But then it happened. The following year, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. They published their findings in May 2010 in the journal Science, ushering in a new decade of discovery and understanding.

The sequence was not only a marvel of this new technology; it shed light on a long-standing debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.

For decades, scientists categorized hominins based on the differences in the shape of their bones. But DNA has brought a faster way to get more definitive answers about the identities of ancient peoples.

Im done with who questions, Dr. Shea says. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how. How did a group of ancient people move across a forbidding landscape? How did they survive through frigid winters?

Those questions can help to animate our view of the past, and deepen our understanding of where we come from. Paleogeneticists are digging into ancient genomes looking for biological answers to those questions, too, but piecing together a fuller story will take a multidisciplinary approach, says Dr. Raff.

Theres a whole field of anthropology that talks about what makes us human, and thats not just our biology, she says. Its also culture and technology and behavior and ecology. Theres just so much that goes into understanding the past.

The revelation that Neanderthals interbred with early Homo sapiens has raised some fundamental questions about what it means to be human.

Traditionally, the line between species is defined by whether they can interbreed and produce viable offspring that can, in turn, produce viable offspring. But, due to similarities in the bones and now the genetic evidence, some anthropologists have labeled Neanderthals as Homo sapiens neanderthalensis and anatomically modern humans as Homo sapiens sapiens.

One such researcher is Fred Smith, professor emeritus of anthropology and biology at Illinois State University. He argues it from a morphological point of view, too.

You would never mistake a Neanderthal for anything but a human, Dr. Smith says. It might not be a human that youd like to go on a blind date with, but if you saw one, you wouldnt think of it as not being human.

By that logic, many researchers refer to other members of the genus Homo as human, too. But some say it might be our understanding of speciation that needs revising, not the distinctions among species in the genus.

The pattern of evolutionary thinking is that you have a point in time where two lineages diverge, after which they do not cross again, says Rick Potts, director of the Smithsonian National Museum of Natural Historys Human Origins Program.

But that branching model of evolution and speciation is proving to be too simplistic across biology, with hybridizing appearing among present-day creatures, too. Evolution and the formation of species are a process, not an event, he says.

Regardless of whether we can call Neanderthals one of us, the revelation of prehistoric trysts between the two peoples has changed our perception of those other humans.

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Before ancient DNA came on the scene, Neanderthal was often lobbed as an insult and sometimes still is. When archaeologists suggested that they had found Neanderthal art and musical instruments, they were dismissed quickly, as the logic went that only Homo sapiens could have the cognitive abilities for that level of creativity. But with the revelation that we are similar enough to them that we could interbreed, that kind of research has been entertained and discussed more frequently.

I think it gives a very important correction on those who would see the Neanderthal simply as incapable of thought, incapable of being clever, Dr. Potts says. And it also, I think, gives a bit of humility to ourselves for those who are willing to look at it.

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Etched in DNA: Decoding the secrets of the past - Christian Science Monitor

Aborting Babies Because They’re Gay: Coming Soon to China – Patheos

DNA with rainbow colors behind (CC0 NeedPix)

New scientific discoveries mean that parents can do some selection regarding the sexual orientation of their children. They can determine a little bit about the probability their child will be homosexual and abort if they dont like those odds. It seems that sexual orientation has certain genetic factors but is not determined. I think this creates a conundrum for many who support abortion and in-vitro fertilization, but also think discriminating against homosexuals is wrong. Aborting people because they are more likely to be homosexuals is extreme discrimination. I will list the science, a bit of the Chinese and American cultural reactions, and then note a Catholic response.

The Genetic Literacy Project reported:

In October 2018, geneticist Andrea Ganna and his team at the Broad Institute reported that their review of markers across the entire genome of more than 493,000 test participants identified 4 genome-wide significant loci for homosexual behavior, with many more loci identified for partner count (meaning lifetime number of sexual partners) in heterosexuals. These results led researchers to estimate that 8-20% of variation in non-heterosexual behavior could be attributed to common genetic variants (those most likely to be detected through GWAS) found in this study. Some these genes display curious overlap with others that affect biological processes such as smell and hormone production, hinting at complex cross-genome relationships between sexual preference and other phenotypes. Previous twin and family studies had already suggested that about40 percentof our sexual orientation is genetically heritable.

The significance of these results isnt their confirmation of a genetically heritable component to homosexuality, but rather their identification of some of the specific gene variants involved. Scientists need to know which variants, or SNPs (single-nucleotide polymorphisms) are associated with which phenotypic traits to employ such technologies as PGD (preimplantation genetic diagnosis) and gene editing to alter the genetic makeup of future children. Identifying the SNPs associated with homosexual behavior means that manipulating the genetics of sexual orientation could one day become possible.

The reaction here is vastly different in the West and the East. In the USA, testing to eliminate homosexual babies is unlikely to take hold but this will likely become a standard part of pre-implantation diagnosis done in IVF cases. The Genetic Literacy Project notes how this is received in the West:

In the United States, the political and party divisions that separate the conservative-religious right from the social-justice left do not prevent them from agreeing on the issue of gene-editing technologies, albeit for very different reasons. Typically, conservatives are afraid of playing God, while liberals are more focused on worsening inequality or harming vulnerable minority groups.

The article goes on to note how homosexuality is no longer stigmatized in North America or Europe.

GLP also notes the attitude in China, which are quite different

With no law prohibiting selectionagainstorforspecific sexual preferences yet in place, it remains possible that prospective parents may one day be able to choose or alter a future childs sexual preferences.

With strong growth in preimplantation genetic diagnosis procedures and no laws directly prohibiting selection of sexual orientation, its possible that Chinese parents could soon begin deciding their childs likely sexual preferences. The implications of this lie deep within the cultural context, as here homosexuality was banned for most of the 20thcentury. After legalization in 1997, it was finally removed from the official list of mental illnesses in 2001. Still, many taboos against homosexuals remain, and the status of LGBT culture is semi-underground. []

Unlike in American culture where fears of eugenics and an elite genetic class still linger after experiences from the first half of the 20thcentury, PGD [Pre-Implantation Diagnosis] in China has little stigma attached. The practice is being widely adopted across the country, and this continues to accelerate.

First of all, abortion is always wrong. There is no moral reason to directly kill an innocent baby in the womb or tiny zygote before implantation. We were all zygotes.

Second, using abortion for discrimination adds a layer of nastiness. This is why the Church has been doubly against sex-selective abortions. The catechism speaks out about discriminating against persons who have homosexual tendencies in 2358:

They [men and women who have deep-seated homosexual tendencies] must be accepted with respect, compassion, and sensitivity. Every sign of unjust discrimination in their regard should be avoided. These persons are called to fulfill Gods will in their lives and, if they are Christians, to unite to the sacrifice of the Lords Cross the difficulties they may encounter from their condition.

The latter part of that reminds us to call these people to live Christian chastity.It is important to note that all humans are genetically predisposed to certain sins more than others and this varies per person. Some are more prone to anger or gluttony. We should not use this either to consider homosexuality different or use a genetic predisposition to change the moral code.

We Catholic should speak out about the intrinsic discrimination in any form of PGD as we should respect the humanity of each human conceived.

Hopefully, this never comes to the USA or Canada. Hopefully, it helps to humanize the unborn so people realize that an unborn baby is a person. If we will avoid this for homosexuality, why not also avoid it for other issues like Downs Syndrome?

Note: Please support me via Patreon so I can write more on the Catholic approach to genetic bioethics. If you cant give monthly, a one-time Christmas gift would be appreciated.

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Aborting Babies Because They're Gay: Coming Soon to China - Patheos

Mutants among us: "Natural short sleepers" reveal the genetics of sleep – Inverse

Humans spend about one-third of our lives asleep, but scientists still dont fully understand how sleep works and why some people have different sleep habits than others. Natural short sleepers are a perfect example: The average person requires seven hours a night, but these folks only need about four to six hours of snooze time.

In August 2019, scientists discovered that these natural short sleepers have something unusual a mutation in the gene ADRB1. The finding suggests genetics may at least in part underlie natural short sleepers tendencies. Understanding why they need different doses of daily rest than the average Joe could help scientists finally pinpoint just how much sleep humans really need to be well-rested.

This is #2 on Inverses 25 most WTF science stories of 2019

Lead study author Ying-Hu Fu, a neurology professor at UC San Francisco, told Inverse at the time she hoped the finding would not only bring relief to those who suffer from sleep problems, but increase sleep efficiency for everyone to ensure healthy aging.

Fu and her team analyzed a family of short sleepers genes and found that they all carried mutations in ADRB1. The gene is involved in neurons in a brain region called the dorsal pons which play a role in regulating sleep-wake behavior.

From there, they compared the mutated ADRB1 genes protein to that of a non-mutated version, and found that the mutant version of the protein was less stable. This suggests that the mutation doesnt interact with the neurons as expected that may explain why carriers of the genetic variant have an atypical sleep-wake cycle.

To confirm their results, the researchers bred mice with the mutated ADRB1 gene and compared them to controls. The mutant mice woke up 55 minutes earlier than the control mice on average. They also saw that the gene was expressed at high levels in the mutant mices brains dorsal pons region.

Untangling the genetics underlying sleep could one day help people get better at sleeping, said Fu. Her team has also found that natural short sleepers may carry a different mutation in the DEC2 gene, which helps regulate circadian rhythms. And there are likely more discoveries to come as scientists get to grips with the biology of this universal human activity.

As 2019 draws to a close, Inverse is counting down the 25 science stories from this year that made us say WTF. Some are incredible, some are icky, and some are just plain strange. This has been #2. Read the original article here.

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Mutants among us: "Natural short sleepers" reveal the genetics of sleep - Inverse

The End of Infertility Is in Sight – UCSF News Services

Fertility expert Marcelle Cedars discusses the future of reproductive medicine.

By Ariel Bleicher UCSF Magazine

Advances in medicine and public health have dramatically extended the human lifespan. Our hearts, lungs, and other vital organs now last 79 years on average. For women, however, the ovaries which stop functioning at an average 51 years remain a stubborn exception. That may soon change, says fertility expert Marcelle Cedars, MD, during a conversation on the future of reproductive medicine.

There are two aspects. One is qualitative. As a woman ages, the quality of her eggs meaning their capacity to make a healthy baby declines. We understand very little about what causes this decline. If we understood that process better, we could dramatically impact fertility success rates.

The other aspect is quantitative. Women are born with a finite number of eggs, and they lose those eggs throughout their lifetime. In fact, that rapid decline in egg numbers starts even before birth. Theres a peak in utero of five to six million eggs. At birth, a woman has only about 1.5 million eggs; at the time of puberty, about 500,000. Through genetics research, were learning that the rate of this decline and the variability from woman to woman is largely driven by ones genes.

Exactly. But what if we could use your genetics and other biological data to understand your unique fertility risks and develop therapies specifically for you or for groups of women like you? This approach is called precision medicine. It has made a huge impact in the world of cancer in terms of improving survival rates. But in the field of reproductive health, precision medicine is still in its infancy.

Potentially. If we can pinpoint the mechanisms of ovarian aging, we could potentially develop a therapy that enables you to still have healthy eggs into your 50s, possibly your 60s. But just because we can do something doesnt always mean we should do it. We know that as women get older, pregnancies are more complicated. You have higher risk for things like high blood pressure, diabetes, and preterm labor. There are many downstream implications, both for the mothers health and the childs.

I dont think the goal should be to enable women to get pregnant into their 60s. Rather, we want women to have the best reproductive lifespan possible to be able to have children when they want to and to not have children when they don't want to and to have a society that supports women across that spectrum.

Were starting to believe that some of the same cellular mechanisms that underlie general aging might also control ovarian aging. This revelation makes the ovary even more interesting to study because its early demise could be a unique window into the bodys aging process. If we can identify cases of accelerated ovarian aging and understand the underlying causes, we might be able to improve not only reproductive function in individual women but also overall health and longevity for all women.

Samesex couples having genetically related children is probably on the horizon. Scientists are learning how to take skin cells or blood cells and turn them into stem cells, which can then be turned into eggs or sperm. Thats not science fiction; its already happening. We just need to figure out how to do it well and safely in humans.

Well probably also see germline engineering. Thats the process of editing genes in reproductive cells or embryos. It has the potential to cure disease before birth. This technology is here. But will society be ready to accept it? A lot of questions need to be answered before its put to use. In addition to technical hurdles, there are innumerable social issues. For instance, if we can eliminate a certain disease, will there be less focus on treatments for people who still have the disease? And what about access to care and social equity? Who would be able to afford these procedures? How will they be applied?

Restrictions are currently preventing the U.S. government from funding research that involves the manipulation of human embryos. As a result, funding for reproductive science is low, which has driven a lot of experts out of academia. If we want to see a revolution in reproductive health, like whats happening with precision cancer medicine, we need to invest in the development of scientific knowledge that will move this field forward.

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The End of Infertility Is in Sight - UCSF News Services

Who is a Jew? DNA home testing adds new wrinkle to age-old debate – The Jewish News of Northern California

Part one of our three-part PAST LIVES series on Jewish genealogical research. Parts two and three will be available next week.

Jennifer Ortiz has a screenshot saved on her computer. Its an image that captures a moment that changed her life.

Right there on the screen: Stewart Bloom is your father, she said, describing the message she received when she logged in to see the results of her home DNA test.

Ortiz is one of millions of people who have taken a DNA test like the ones sold by 23andMe or Ancestry.com. Ortiz, who grew up Catholic in Utah, found out from the test that she was 50 percent Ashkenazi Jewish a result that led to the discovery that she was the child of Bloom, a Jewish photographer in San Francisco, and not the man who raised her.

Thats when my world changed, she said.

But what is 50 percent Jewish?

The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are (among other things).

Its a very interesting, different and complicated and morally ambiguous moment, said Steven Weitzman, director of the Katz Center for Advanced Judaic Studies at the University of Pennsylvania and former director of the Taube Center for Jewish Studies at Stanford University.

In the past few years, commercial gene testing has taken off, driven by aggressive advertising that purports to tell the real story behind your ancestry. The magazine MIT Technology Review analyzed available data to estimate that more than 26 million people had taken at-home tests since they first went on the market more than a decade ago.

Its really beginning to seep into peoples consciousness, Weitzman said.

Sunnyvale-based 23andMe and Ancestry.com, headquartered in Utah, will ask you to spit in a tube and then, several weeks later, will give you a pie chart that might say, for example, 20 percent Swedish, 8 percent Greek and 11 percent German. Or, perhaps, 39 percent Ashkenazi Jewish.

But is there such a thing as 39 percent Ashkenazi? Yes, according to professor of epidemiology and biostatistics Neil Risch, director of UCSFs Institute for Human Genetics.

Its very easy to identify someone whos Ashkenazi Jewish, said Risch, who also does research on population genetics for Kaiser Permanente Northern California.

Thats because there are genetic markers distinct to the Eastern European Jewish population, partly due to a population founder effect, a way of saying that they descend from a small number of ancestors. Also, Jews in Europe tended to marry other Jews, making them endogamous.

Jews were not allowed to intermarry, Risch said. He added that on top of that, there were other external factors; for centuries, Christian churches forbade their flock from marrying Jews.

Ashkenazi Jews share a genetic profile so distinct that even commercial tests can spot it, unlike the difference between, say, Italians and Spaniards, who share a more diffuse Southern European profile. Risch said that although commercial genetic tests will show a percentage of your heritage from very specific regions in Europe, these results should be taken with a grain of salt.

Those kinds of subtle differences are challenging and have to be looked at with some skepticism, Risch said.

I call it entertainment genetics, said Marcus Feldman, a Stanford biology professor and co-director of the universitys Center for Computational, Evolutionary and Human Genetics, when you go and find out where your ancestors came from.

But for Ashkenazi Jews, heritage is pretty clear. Pick a street, Feldman said. Then pick any two Ashkenazi Jews at random walking down it.

Theyd be fifth to ninth cousins at the genetic level, Feldman said. Ashkenazi Jews are actually that closely related, all descended from a small group of people.

But what about Sephardic Jews looking to get a quantitative peek at their heritage? Theyre out of luck. 23andMe communications coordinator Aushawna Collins said that the company hasnt collected enough data on those populations yet to be able to pinpoint what makes them unique in terms of genes. Risch said its because genetically they are not distinct enough from other Mediterranean peoples.

But even if science can determine whether people have Ashkenazi genes, can one extrapolate from that how Jewish they are?

What is 39 percent Jewish? Thats nonsense, said Weitzman, a former professor of Jewish culture and religion at Stanford, where in 2012 he started an interdisciplinary course on Jewish genetics with biology professor Noah Rosenberg. You cant be half Jewish. Youre either Jewish or not Jewish.

Rabbi Yehuda Ferris of Berkeley Chabad would agree.

You cant be part kosher, you cant be part pregnant, you cant be part Jewish, he said.

However, even Ferris and his wife, Miriam, have done at-home DNA tests although they did it to find relatives, not to figure out their Jewishness.

It was extremely shocking, Ferris said dryly. Im 100 percent Ashkenazi Jewish and shes 99 percent.

For zero dollars we could have told you the same thing, Miriam Ferris added.

As an Orthodox rabbi, Ferris goes not by percentages but by the matrilineal rule in establishing Jewishness.

If your mother is Jewish, youre Jewish, he said. Thats it.

The concept of matrilineal descent is an old one, but genetics are giving it a new twist, especially in Israel where the Chief Rabbinate has used gene testing to weigh in on the crucial question of who is a Jew. (In Israel, immigrants must prove their Jewish status to marry, be buried in a Jewish cemetery or undergo other Jewish life-cycle rituals.)

Thats an interesting and disturbing new phenomenon, Weitzman said.

The way the rabbinate has used gene testing is by examining mitochondrial DNA, which gives much less information than testing of the more extensive DNA in the cell nucleus, which is what home tests do. But unlike nuclear DNA, mitochondrial DNA is almost always passed from mothers to their children. This dovetails nicely with the notion of matrilineal Jewish descent, and rabbis in Israel have now begun accepting mitochondrial DNA testing for people, primarily immigrants or children of immigrants from the former Soviet Union, who have inadequate documentation of their Jewish status.

The test can identify Jews descended from four founder women ancestors. However, it can be used only to prove a positive, as half of Ashkenazi Jews dont have the characteristic mitochondrial chromosomes at all. Still, for people who have no paper or eyewitness proof of Jewish descent, genetic testing can be the deciding factor.

When you dont have enough information, it might be the linchpin, Ferris commented.

The rabbinates use of mitochondrial DNA testing is controversial, with some critics calling it humiliating. The Yisrael Beiteinu party, which represents Russian-speaking immigrants, is trying to challenge it in Israels Supreme Court.

Outside of Israel, too, not everyone is comfortable with using science to figure out who is a Jew. Its something the world has seen before.

People were also using science to figure out who people were. We called that race science, Weitzman said.

And the people who did it?

I mean Nazis, he clarified.

Genetics have been used against Jews in the most virulent way, said UCSFs Risch. But he thinks that Jews are inclined right now to trust the science because its a field filled with Jewish researchers. We love science because were all the scientists! he said.

In the past two decades, there has been a rash of research on the genetic components of Judaism, a boom coinciding with the Human Genome Project, which ran from 1990 to 2003. Much of it was done by Jewish scientists. The initial research on mitochondrial DNA in Ashkenazi Jews was done in 2006 by Israeli geneticist Doron Behar; he is now CEO of genetic analysis company Igentify.

In 1997, a study of traits in the Y chromosome, passed only from father to son, found that more than 50 percent of men with the last name Cohen (or Kahan or Kahn or other variants) had a certain marker, giving some support to the idea of a hereditary Jewish priesthood.

In 2010, medical geneticist Harry Ostrer did work that found various communities of Jews shared a common Middle East ancestry. And in 2009, Feldman, who is also director of Stanfords Morrison Institute for Population Biology and Resource Studies, studied to what degree Jewish groups in different places were related. (This last topic has been studied further, including by Risch.)

But Feldman himself has experienced firsthand how his own research has been twisted for what he called racist conclusions when economists drew inferences from his work with fellow Stanford professor Rosenberg to suggest theres a genetic basis for economic success.

We were outraged because those two people were using our data to make these quite racist statements, Feldman said.

Feldman said its common for the public to seize on genome research and try to use it to explain everything from intelligence to criminality; he said scientists have a responsibility to be on alert all the time.

Theres been too much emphasis on the genetic basis of a lot of human behaviors, he said. When genetics is your hammer, everything becomes a nail, he said. So it doesnt matter what human trait youre interested in.

Even if geneticists like Feldman consider home testing kits entertainment, their popularity shows that people are interested in using genetics to figure out who they are, including how Jewish. Weitzman said it might be connected to how hard it is for most Ashkenazi Jews in this country to trace their roots; Jews in Central and Eastern Europe didnt have last names until the 18th or 19th centuries.

A lot of us, we dont know a lot about our ancestors prior to our grandparents, Weitzman said.

So in searching for ancestors, people are turning to the companies that promise results. 23andMes Collins told J. theyd sold 10 million kits in total, and Ancestry.com in May issued an announcement claiming to have tested more than 15 million people.

Cantor Doron Shapira of Peninsula Sinai Congregation in Foster City is one of them. He was always into Sephardic music and food. As a percussionist, he felt drawn to the rhythms.

People have very often asked me, Are you Sephardic? he said. And I always said, Not to my knowledge.

Last year he saw an ad for Ancestry.com, got his DNA testing kit and sent it in with his sample.

It comes back 94 percent no surprise Russian Ashkenazi Jewish European roots, he said.

But the test also revealed 6 percent of his roots were other, including from Southern Europe and the Iberian Peninsula. Maybe Shapira had a Sephardic ancestor after all?

He started to think about which side of the family it could be and considered asking his mom to get tested. It wasnt that the result suggesting a Sephardic ancestor changed his perception of who he was, he said, but it validated something about himself that he and others had always noticed.

I got a little bit excited, he admitted.

And then he got an email update from Ancestry.com.

It says, scratch that, youre now 100 percent Ashkenazi Jewish, he said with a laugh.

But even with the change in result, Shapira says hes not against using home genetic testing to get a peek into his ancestry.

Im inclined to do another one, he said. Just to see if its consistent.

Many others are taking the tests and their results very seriously. People are making life decisions now on the results of this test, Weitzman said. Theyre deciding whether theyre Jewish or not.

Thats what Ortiz has done. If you ask her now if shes Jewish, the 53-year-old has an answer.

Yes, I am, she said. Ill say yes.

She had never been told that the father who raised her was not her biological dad, and when she confronted her parents, they denied it. But she knew it was no mistake when the DNA testing company delivered a startling message with the name of her biological father thats the screenshot shes got saved on her computer.

Ortiz immediately made contact with Stewart Bloom and flew down to San Francisco last year from her home in Portland to visit. There was a lot to process, of course, but for Ortiz its been a wonderful thing and that includes embracing Jewishness, something she said shed always been drawn to.

When I found out Im actually 50 percent, on one level it didnt surprise me, she said.

Now shes converting that number into something deeper: Shes planning a ceremony in Portland with a Jewish Renewal rabbi not a conversion, but something to celebrate her new identity.

It would help me take a step into Judaism, she said. Not just from a biological level but a little more than that.

Thinking about Jewishness in terms of biology is something that bothers Emma Gonzalez-Lesser, a Ph.D. candidate at the University of Connecticut and the author of an article titled Bio-logics of Jewishness. If being Jewish is something in the genes, then that excludes people who have come to Judaism in other ways.

People who convert may not be seen as legitimately Jewish as someone who has 30-something percent ancestry from a genetic test, she said.

And beyond that, she added, there are some ideas underlying the current fascination with genetics that arent being questioned, like the question of whether Jews are a race.

I think part of our societal fascination with genetic testing really rests on this assumption that race is really this biological function, she said.

(Prominent researchers like Feldman, Rosenberg and Risch have been caught up in the sensitive question of whether studying the genomics of populations leads to a biological definition of race; the issue has been written about at length and remains controversial.)

Weitzman said the interest in ancestry reflects a trend around the world of turning to biology, genetics and race as a way to encode identity.

Part of whats going on in the Jewish world right now is a reflection of a broader revival of ethno-nationalism, Weitzman said.

In addition, at a time when American Jews are less likely to go to synagogue or practice rituals in the home, they face more questions about what it means to be Jewish. That may incline them to trust in science to determine their identity, especially when they have only a few dusty boxes of papers, if that, to show their family history. That makes Jewish genes a door into the past.

Theres something hiding inside of you that is preserving your identity intact, Weitzman said. To me, thats part of the appeal.

See the article here:

Who is a Jew? DNA home testing adds new wrinkle to age-old debate - The Jewish News of Northern California

Humans and autoimmune diseases continue to evolve together – Medical News Today

The ability to fight disease is a driving force in human survival. Inflammation has emerged as a key weapon in this process. As pathogens change and evolve, the immune system adapts to keep up.

However, to what extent might such evolutionary adaptations also give rise to autoimmune conditions such as lupus and Crohn's disease?

This was a central question in a recent Trends in Immunology review by two scientists from Radboud University, in Nijmegen, Netherlands.

To address the issue, first author Jorge Domnguez-Andrs, a postdoctoral researcher in molecular life science, and senior author Prof. Mihai G. Netea, chair of experimental internal medicine, examined studies in the fields of virology, genetics, microbiology, and immunology.

They focused on people of African or Eurasian descent and how their ancestral origins may have influenced their risk of autoimmune diseases.

Of particular interest was how common pathogens in different communities related to changes in people's DNA, particularly when this involved inflammation.

The team found that the genetic changes made it harder for pathogen infections to take hold.

Over time, however, it seems that inflammation-related diseases, such as inflammatory bowel disease, Crohn's disease, and lupus, have emerged alongside improvements in immune defenses.

The findings also suggest that the human immune system continues to evolve and adapt to changes in environment and lifestyle.

"There seems to be a balance," says Domnguez-Andrs.

"Humans evolve to build defenses against diseases," he continues, "but we are not able to stop disease from happening, so the benefit we obtain on one hand also makes us more sensitive to new diseases on the other hand."

He observes that autoimmune diseases in today's humans tend to emerge later in life. These would not have caused health problems for our ancestors because their lives were much shorter.

"Now that we live so much longer," he explains, "we can see the consequences of infections that happened to our ancestors."

One of the examples that Domnguez-Andrs and Netea cover in detail in their review is malaria.

"Among various infectious diseases," they write, "malaria has exerted the highest evolutionary pressure on the communities across the African continent."

Malaria is a mosquito-borne disease that makes people very ill with flu-like symptoms, such as chills and a high fever.

While there has been much progress in the fight to control and eliminate the potentially fatal disease, it continues to threaten nearly half of the world's population, according to the World Health Organization (WHO).

The cause of malaria is parasites belonging to the species Plasmodium. These parasites spread to humans through the bites of infected female Anopheles mosquitoes.

Domnguez-Andrs and Netea note that Plasmodium has been infecting people in Africa for millions of years. During that period, the immune systems of those human populations have evolved stronger resistance to infection by increasing inflammation.

However, the downside of increasing inflammation to withstand infectious disease is that it favors health problems that tend to occur later in life.

Modern humans of African descent are more prone to developing such conditions, which include atherosclerosis and other cardiovascular diseases.

Another example of how ancestral changes in DNA leave imprints in the immune systems of modern humans is the interbreeding of early Eurasians with Neanderthals.

Modern humans whose genomes harbor remnants of Neanderthal DNA have immune systems that are better able to withstand staph infections and HIV-1. However, they are also more prone to asthma, hay fever, and other allergies.

Improvements in technology are making it more possible to find the downsides that can accompany disease-fighting adaptations.

Next generation sequencing, for example, is allowing scientists to delve more deeply into what happens at the DNA level between pathogens and the organisms that they infect.

Not only is new technology getting better at revealing genetic changes that occurred in our ancestors, but it is also showing that the human immune system continues to evolve and adapt.

In Africa, there are still tribes that hunt for food as their ancestors did. Thanks to new tools, scientists can see how the gut bacteria of these tribes are more diverse than those of, for example, contemporary African American people, who buy food in stores.

Other changes that have had an effect on DNA are the improvements in hygiene that have occurred in recent centuries. These have reduced exposure to pathogens and the diversity of gut bacteria.

"This reduced microbiota diversity in Western societies," the authors observe, "has been associated with a higher incidence of the so-called 'diseases of civilization,' such as cardiovascular diseases, diabetes, obesity, and autoimmune disorders, which are very unusual in hunter-gatherer societies, compared with communities living a Western-type lifestyle."

Domnguez-Andrs and Netea are extending their research to populations whose ancestry is other than African or Eurasian.

"Today, we are suffering or benefiting from defenses built into our DNA by our ancestors' immune systems fighting off infections or growing accustomed to new lifestyles."

Jorge Domnguez-Andrs, Ph.D.

See more here:

Humans and autoimmune diseases continue to evolve together - Medical News Today


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