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Employees who decline genetic testing could face penalties under proposed bill – Washington Post

Employers could impose hefty penalties on employees who decline to participate in genetic testing as part of workplace wellness programs if a bill approved by a U.S. House committee this week becomes law.

In general, employersdon’t have that power under existing federal laws, which protect genetic privacy and nondiscrimination. But a bill passed Wednesday by theHouse Committee on Education and the Workforce would allow employers to get around thoseobstacles if the information is collected as part of a workplace wellness program.

Suchprograms which offer workers a variety ofcarrots and sticksto monitor and improve their health, such as lowering cholesterol have become increasingly popularwith companies.Some offer discounts on health insurance to employees who complete health-risk assessments. Others might charge people more for smoking.Under the Affordable Care Act, employers are allowed to discount health insurance premiums by up to 30 percent and in some cases 50 percent for employees who voluntarily participate in a wellness program.

[Obamacare revision clears two House committees as Trump, others tried to tamp down backlash]

The bill is under review by other House committees and still must be considered by the Senate. But it has already faced strong criticism from a broad array of groups, as well as House Democrats. In a letter sent to the committee earlier this week, nearly 70 organizations representing consumer, health and medical advocacy groups, including the American Academy of Pediatrics, AARP, March of Dimes and the National Women’s Law Center said the legislation, if enacted, would undermine basic privacy provisions of the Americans With Disabilities Act and the 2008 Genetic Information Nondiscrimination Act(GINA).

Congress passed GINA to prohibit discrimination by health insurers and employers based on the information that people carry in their genes. There is an exception that allows for employees to provide that information as part of voluntary wellness programs. But the law states that employee participation must be entirely voluntary, with no incentives for providing the dataor penalties for not providing it.

But theHouse legislation would allow employers to impose penalties of up to 30 percent of the total cost of the employee’s health insurance on those who choose to keep such information private.

[Rich Americans seem to have found a way to avoid paying a key Obamacare tax]

It’s a terrible Hobson’s choice between affordable health insurance and protecting one’s genetic privacy, said Derek Scholes, director of science policy at the American Society of Human Genetics, which represents human genetics specialists. The organization sent aletter to the committee opposing the bill.

The average annual premium for employer-sponsored family health coverage in 2016 was $18,142, according to the Kaiser Family Foundation. Under the plan proposed in the bill, a wellness program could charge employees an extra $5,443 in annual premiums if they choose not to share their genetic and health information.

The bill, Preserving Employee Wellness Programs Act, HR 1313, was introduced by Rep. Virginia Foxx, (R-N.C.), who chairs the Committee on Education and the Workforce. A committee statement said the bill provides employers the legal certainty they need to offer employee wellness plans, helping to promote a healthy workforce and lower health care costs. It passed on a party-line vote, with all 22 Republicans supporting it and all 17 Democrats opposed.

The bills supporters in the business community have argued that competing regulations in federal laws make it too difficult for companies to offer these wellness programs. In congressional testimony this month, the American Benefits Council, which represents major employers, said the burdensome rules jeopardize wellness programs that improve employee health, can increase productivity and reduce health care spending.

A House committee spokeswoman told CNBC that those opposed to the bill are spreading false informationin a desperate attempt to deny employees the choice to participate in a voluntary program that can reduce health insurance costs and encourage healthy lifestyle choices.

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Employees who decline genetic testing could face penalties under proposed bill – Washington Post

Genetics organization opposes Stefanik-backed workplace wellness … – Glens Falls Post-Star (blog)

A national society of genetics researchers, counselors, nurses and college professors is opposing legislation U.S. Rep. Elise Stefanik, R-Willsboro, co-sponsored to clarify nondiscrimination rules for employee health insurance programs that provide incentives, rebates, surcharges or penalties based on lifestyle choices such as being over weight or smoking.

The proposed legislation would allow employers to ask invasive questions of employees and penalize employees who choose not to disclose the information, the American Society of Human Genetics said in a press release issued on Wednesday.

While ASHG applauds efforts to improve employee wellness, employee protections against genetic discrimination must not be sacrificed, said Nancy Cox, president of the society. Americans must be able to continue to volunteer for research and benefit from genetic-based-clinical advances without fear of workplace discrimination based on its findings.

Stefanik on Tuesday co-sponsored the legislation, dubbed the Preserving Employee Wellness Act, which Rep. Virginia Foxx, R-N.C., introduced March 2, according to the Library of Congress government information web site.

The legislation HR 1313 had three co-sponsors, as of Thursday all Republicans.

Congress has a strong tradition of protecting and preserving employee workplace programs, including programs that utilize a health risk assessment, biometric screening, or other resources to inform and empower employees in making healthier lifestyle choices, the legislation reads. Health promotion and prevention programs are a means to reduce the burden of chronic illness, improve health and limit the growth of health care costs.

The legislation includes language to protect privacy.

Congress has struck an appropriate balance among employees, health care providers, and wellness plan sponsors to protect individual privacy and confidentiality in a wellness program which is designed to improve health outcomes, the legislation reads.

Follow staff writer Maury Thompson at All Politics is Local blog, at PS_Politics on Twitter and at Maury Thompson Post-Star on Facebook.

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Genetics organization opposes Stefanik-backed workplace wellness … – Glens Falls Post-Star (blog)

Mutations in CWC27 result in a spectrum of developmental conditions – Medical Xpress

March 10, 2017

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

“CWC27 is a new disease-associated gene,” said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

“In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago,” said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. “We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient.”

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

“Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision,” Xu said.

“When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27,” Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

“This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions,” Xu said. “To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patient’s CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function.”

“This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes,” Xu said. “Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases.”

Explore further: Improving the view on the genetic causes of retinitis pigmentosa

More information: Mingchu Xu et al. Mutations in the Spliceosome ComponentCWC27Cause Retinal Degeneration with or without Additional Developmental Anomalies, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.02.008

Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects …

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Researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital with funding from Fight for Sight, in collaboration with a team from Baylor College of Medicine in the USA, have discovered a new retinitis pigmentosa …

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By the time they turn 50, half of European men have some degree of hair loss. For many, it will begin far earlier than that, and yet male pattern baldness is poorly understood.

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Mutations in CWC27 result in a spectrum of developmental conditions – Medical Xpress

Using DNA as a Tool to Understand Human History – Penn Current

If you want to know the secrets of human ancestry and evolution, look no further than genetics, says Theodore Schurr, a Penn professor of anthropology.

Genetics allows you to look at population dynamics, the history of genetic lineages, and relationships between individuals. With genetics, you can try to reconstruct the processes that gave rise to the human diversity we see today and determine where its roots lie, he says. Those kinds of questions interest me.

Broadly speaking, Schurrs research falls under the category of biological or physical anthropology, or the study of human behavior, bones, and biology. But thats putting it too simply. During a career that has spanned more than three decades, hes traveled the globe working with villagers in Turkey, Inuit in the Canadian Arctic, and a dozen other under-studied communities in far-flung outposts. He builds trust with the people, and then immerses himself to better understand their origins using DNA analysis. The goal is to create a comprehensive picture of each groups genetic history and the factors that have shaped it.

What Ive aimed to do with my work is to determine where there are interesting historical questions to answer using genetic data, identify patterns of diversity that we dont fully understand, and go to places where people havent yet traveled to do this kind of biological research, he says.

Some might view this kind of science as extending beyond the boundaries of anthropology, given the heavy reliance on genetics and DNA analysis. But once you look closely at how Schurr got where he is today, it makes sense.

His work-life began in the laboratory of Douglas Wallace, then at Emory University and now a professor at Penns Perelman School of Medicine and at the Childrens Hospital of Philadelphia (CHOP). Together, they studied human mitochondrial genetics, at that time a new field Wallace founded, one that centers on mitochondrial DNA (mtDNA) and biology.

Mitochondrial DNA differs from nuclear DNA in that it only comes from the mother and has a very high rate of mutation. Researchers can learn from how it interacts with nuclear DNA (which exists in cell nuclei), as well as use it to study certain diseases and reconstruct the genetic migration of women.

What Ive aimed to do with my work is to determine where there are interesting historical questions to answer using genetic data, identify patterns of diversity that we dont fully understand, and go to places where people havent yet traveled to do this kind of biological research.

It gives us a clear picture of maternal lines that extend back in time many generations, and ultimately to the ancestresses of our species, Schurr explains.

When Schurr began working as a technician in Wallaces lab, few other researchers were thinking about mtDNA. The pair co-authored the first paper showing that it could cause disease, and pioneered a new way to study it, using well-tested anthropological practices.

We only studied indigenous people. Thats critical to avoid drawing erroneous conclusions resulting from more recent migrations and genetic mixture, Wallace says. If you go back to the indigenous people, you find that they have very specific lineages that arose with the original population and are linked to the populations identity. Tads research has continued to make this critical connection between careful anthropological research and exacting molecular genetic analysis. This is true molecular anthropology, and is the approach now used around the world.

In graduate school, Schurr studied mtDNA variation in Siberia as it related to Native Americans, then began incorporating Y-chromosomes and autosomal markers into research to understand the entire familial genetic backstory. Y-chromosomes pass from father to son and complement the matrilineal mitochondrial DNA. Autosomeschromosomes that are not sex-linkedreveal information about both parents that cant be traced back to the other two ancestry signals.

Each of these different kinds of DNA gives us a slightly different picture of genetic history and the forces that have shaped it, Schurr says.

Spend any time talking with Schurr about the places hes been and the people hes met, however, and its clear the work is about much more than DNA strands and genes. Schurr tries to visit every community in person to accomplish the anthropological aspects of his work that are impossible to do remotely.

There is no substitute for actually being on location and seeing a place and what the landscape looks like, meeting the people living there, talking to them, getting a sense of their history, he says. Its personal contact, which makes the work more interesting. People all have the same questions about their history and genealogy, and their interest facilitates our efforts to elucidate them. Most communities are pretty welcoming to the researchas long as they understand the work taking place.

He cites the example of aboriginal Australians he and a team published about in late 2016 in the Journal of Human Genetics. This group was, in relatively modern history, exploited and killed by white Europeans, and in the post-colonial context, marginalized socially and politically. As such, they were reticent to participate in any sort of genetic research, leaving large gaps in the understanding of their genetic history, and by extension, modern human ancestry.

Recent policy changes have started to offer them more protections. In coordination with an aboriginal Australian researcher, and strictly following the aboriginal communities ethical guidelines, Schurr and colleagues gained access to and the trust of more than 500 such Australians. The researchers were able to conduct the first systematic mtDNA survey there, discovering new lineages.

Its a testament to how [collaborating] with communities on projects like this can be successfully done and the results are fairly extraordinary because of their participation. Its mutually beneficial, he says. You can work with individual communities on genetic studies and learn a tremendous amount by engaging with them.

Hes seen this time and again. In Turkey, research revealed that religious and ethnic backgrounds varied slightly from village to village. Some ancestry traced back to the Greeks, others to people from the Caucuses, some to invading Turkic tribes. In Trinidad, in the Caribbean, he discovered what he calls a complex genetic dance compounded by the arrival of non-natives.

The indigenous [people] have their origins in these areas, Schurr explains, but also, they themselves are the product of historical mixing of African, European, and South Asian peoples since colonial entry there.

Schurr says he tries to return to communities to share his results with participants, but if going back in person isnt possible, he finds another way to communicate his findings. He also aims to publish all his data in peer-reviewed journals or as book chapters, to build on the archive of material about the path of the worlds people.

[Theodore Schurrs] research has continued to make this critical connection between careful anthropological research and exacting molecular genetic analysis. This is true molecular anthropology, and is the approach now used around the world.

Hes been prolific: Schurr currently has three papers in press, about the genetic diversity of the Svan people in the country of Georgia, variations in Y-chromosomes in native South American populations, and a possible link between susceptibility to human papillomavirus and mtDNA in Argentinean populations. That doesnt count the four additional papers he thinks will come in the near future, and another dozen or so in development.

His methods have also made their way into clinical settings, by way of people like his former graduate student Matthew Dulik, now a director in the clinical diagnostics lab at CHOP. In Schurrs lab they worked on the genetic diversity of southern Siberias Altai-Sayan region. Dulik sequenced and analyzed mtDNA and Y-chromosomal DNA samples from indigenous Altaians, and he says he became familiar with techniques and equipment that he still uses today.

Youre always going to learn something but its also an enjoyable time, Dulik says, of working with Schurr. In his lab, there is a structure but he also gives you enough free rein to explore ideas and really lets you develop as a researcher.

Its this combination of structure and freedom, of tying together DNA analysis and genetics with anthropological practices, that has allowed Schurr to make true scientific headway. Wallace calls him a leader in the field.

Hes been extraordinarily successful. Hes done a great job, Wallace says. Hes doing a lot of really beautiful work.

Work that will, with any luck, continue to unlock the mysteries of how people became who they are in some of the farthest reaches of the world.

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Using DNA as a Tool to Understand Human History – Penn Current

For the first time ever, scientists have edited the genetic makeup of viable human embryos – Quartz

Our genetically edited future is nigh. Chinese researchers, who have been at the forefront of experimenting with human embryos using a technology called CRISPR, are improving on their results year after year.

For the past three years, these researchers had been experimenting on non-viable human embryos, which are created when two sperms fertilize the same egg. Such embryos do not have a chance of becoming a full-grown human. Despite CRISPR being heralded as the most precise genetic copy-paste tool ever developed, its error rate had been too high to allow, ethically speaking, experiments on viable human embryos.

That has now changed. Researchers made the case that non-viable embryos were so genetically abnormal that their inaccurate results didnt give a true picture of the state of the technology. So, in a new study published in Molecular Genetics and Genomics, researchers at the Guangzhou Medical University have used CRISPR on viable human embryos. As they had hoped, the studys results are more promising than the work done in non-viable embryos.

The current aim of the researchers is to try and edit out simple genetic mutations that we know cause disease. For instance, a mutation called beta41-42 causes the blood disease beta-thalassaemia. In 2015, the attempts to remove the mutated gene were successful in fewer than one in ten cases.

In the latest study, the researchers used donated immature eggs. Usually such eggs are discarded, but if used for fertilization there have been cases that have resulted in viable embryos that went on to become full-grown humans. The researchers fertilized six such eggs with sperm from two men who each carried a different genetic mutation. One had a mutation in the gene that codes for the G6PD enzyme and causes favism (a condition where eating fava beans causes destruction of red blood cells). The other had the mutation for beta-thalassaemia.

Using CRISPR, the researchers fixed one embryo fully to cure favism, and fixed some of the cells in two other embryos. Such partial fixes result in mosaics, where if the embryo were to come to term it would result in a human having some cells in the body with the mutation and others without. Mosaicism is not ideal, but with some diseases, such as metabolic liver disease, it does result in a cure. Two embryos did not have any fixes and in one CRISPR caused wrong mutations.

It is encouraging, Robin Lovell-Badge of the Francis Crick Institute told the New Scientist, to see that viable embryos show slightly better results. But, he warned, the study was done on too few human embryos for firm takeaways just yet.

Beyond China, two other research groups in the UK and Sweden are working on CRISPR-editing viable human embryos. The New Scientist also notes rumors that three or four studies on the use of CRISPR in human embryos have been completed but not yet published. Our genetically edited future appears to be closer than most people think.

Read next: 2015 was the year it became OK to genetically engineer babies

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For the first time ever, scientists have edited the genetic makeup of viable human embryos – Quartz

Mutations in CWC27 result in spectrum of conditions – Baylor College of Medicine News (press release)

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

CWC27 is a new disease-associated gene, said co-senior author Dr. Rui Chen, associate professor of molecular and human genetics at Baylor College of Medicine.

One of the goals of the Chen lab is to identify genes involved with human retinal disease, such as retinitis pigmentosa, a condition characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually impaired around the world due to this untreatable disease.

In our search for genes linked to retinitis pigmentosa, we identified a patient with the condition more than two years ago, said co-first author Mingchu Xu, graduate student in molecular and human genetics in the Chen lab. We identified a frameshift mutation in CWC27. The patient did not have other conditions in addition to the vision problems. To study the condition, we mimicked the human mutation in a mouse model, and at 6 months of age the mice showed retinal degeneration and no other conditions, just as we had observed in the human patient.

CWC27 is one of more than 100 genes that participate in the formation and function of the spliceosome, a molecular machine that is involved in the correct expression of the proteins that carry out the functions of all the cells in the body. Until now, most disease-associated genes of the spliceosome had been involved in two non-overlapping conditions. For instance, mutations in certain proteins of the spliceosome cause syndromes that involve mainly craniofacial and skeletal conditions, while mutations in other spliceosome genes result only in retinitis pigmentosa. CWC27 seemed to belong to the second group of genes.

Surprising results

Interestingly, our collaborator Dr. Daniel Schorderet, director of the Institute for Research in Ophthalmology in Switzerland and co-senior author of the paper, was working with patients who have mutations in CWC27 and present with more severe clinical conditions than our patient, including craniofacial and skeletal problems in addition to problems with vision, Xu said.

When we looked at the clinical characteristics of all the patients, we did not anticipate that they would have mutations in the same gene. Only when we looked at the genes did we realize that the spectrum of clinical characteristic in the patients was the result of various mutations in the same gene, CWC27, Chen said.

By applying exome sequencing to multiple families and modeling the disease in two mouse models the researchers were able to appreciate the spectrum of clinical conditions that mutations in the same gene can cause.

This is the first time a mutation of a gene in the spliceosome has been described to result in an entire spectrum of clinical conditions, Xu said. To explain why our patient presented only with vision problems, we hypothesized that the mutation in our patients CWC27 was milder than those of other patients. By analyzing the results on mouse models and patient samples, we found that the mutant gene in our patient probably retains a residual function, while the genes in the patients of the other groups have a more severe loss of function.

This study also shows the power of collaboration within the genetics community when looking for new disease-associated genes, Xu said. Initially, we only identified one patient and then we collected more cases via two platforms, GeneMatcher and the European Retinal Disease Consortium. We would not have been able to present this interesting story without the contributions of researchers from nine countries. With exome sequencing accessible to more patients and researchers, these platforms will most likely speed up the process of finding the genetic causes of human diseases.

Seea complete list of authors and their affiliations and the financial support for this project.

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Mutations in CWC27 result in spectrum of conditions – Baylor College of Medicine News (press release)

Social phobia: Indication of a genetic cause: Study supports link with … – Science Daily


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Social phobia: Indication of a genetic cause: Study supports link with …
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People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life. Researchers have now …

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Social phobia: Indication of a genetic cause: Study supports link with … – Science Daily

House Republicans would let employers demand workers’ genetic test results – STAT

A

little-noticed bill moving through Congress would allow companiesto require employees to undergo genetic testing or risk paying a penalty of thousands of dollars, and would let employerssee that genetic and other health information.

Giving employers such power is now prohibited by legislation including the 2008 genetic privacy and nondiscrimination law known as GINA. The new bill gets around that landmark law by stating explicitly that GINA and other protections do not apply when genetic tests are part of a workplace wellness program.

The bill was approved by a House committee on Wednesday, with all 22 Republicans supporting it and all 17 Democrats opposed. It has been overshadowed by the debate over the House GOP proposalto repeal and replace the Affordable Care Act, but the genetic testing bill isexpected to be folded into a second ACA-related measure containing a grab-bag of provisions that do not affect federal spending, as the main bill does.

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What this bill would do is completely take away the protections of existinglaws, said Jennifer Mathis, director of policy and legal advocacy at the Bazelon Center for Mental Health Law, a civil rights group. In particular, privacy and other protections for genetic and health information in GINA and the 1990 Americans with Disabilities Act would be pretty much eviscerated, she said.

Employers say they need the changes because those two landmark laws are not aligned in a consistent manner with laws about workplace wellness programs, as an employer group said in congressional testimony last week.

Top wellness award goes to workplace where many health measures got worse

Employers got virtually everything they wanted for their workplace wellness programs during the Obama administration. The ACA allowed them to charge employees 50 percent more for health insurance if they declined to participate in the voluntary programs, which typically include cholesterol and other screenings; health questionnaires that ask about personal habits including plans to get pregnant; and sometimes weight loss and smoking cessation classes. And in rules that Obamas Equal Employment Opportunity Commission issued last year, a workplace wellness program counts as voluntary even if workers have to pay thousands of dollars more in premiums and deductibles if they dont participate.

Despite those wins, the business community chafed at what it saw as the last obstacles to unfettered implementation of wellness programs: the genetic information and the disabilities laws. Both measures, according to congressional testimony last week by the American Benefits Council, put at risk the availability and effectiveness of workplace wellness programs, depriving employees of benefits like improved health and productivity. The Council represents Fortune 500 companies and other large employers that provide employee benefits. It did not immediately respond to questions about how lack of access to genetic information hampers wellness programs.

Rigorous studies by researchers not tied to the $8 billion wellness industry have shown that the programs improve employee health little if at all. An industry group recently concluded that they save so little on medical costs that, on average, the programs lose money. But employers continue to embrace them, partly as a way to shift more health care costs to workers, including by penalizing them financially.

Do workplace wellness programs improve employees health?

The 2008 genetic law prohibits a group health plan the kind employers have from asking, let alone requiring, someone to undergo a genetic test. It also prohibits that specifically for underwriting purposes, which is where wellness programs come in. Underwriting purposes includes basing insurance deductibles, rebates, rewards, or other financial incentives on completing a health risk assessment or health screenings. In addition, anygenetic information canbe provided to the employer only in a de-identified, aggregated form, rather than in a way that reveals which individual has which genetic profile.

There is a big exception, however: as long as employers makeproviding genetic information voluntary, theycan ask employees for it. Under the House bill, none of the protections for health and genetic information provided by GINA or the disabilities lawwould apply to workplace wellness programs. As a result, employers could demand that employees undergo genetic testing and health screenings.

While the information returned to employers would not include workers names, its not difficult, especially in a small company, to match a genetic profile with the individual.

That would undermine fundamentally the privacy provisions of those laws, said Nancy Cox, president of the American Society of Human Genetics, in a letter to the House Committee on Education and the Workforce the day before it approved the bill. It would allow employers to ask employees invasive questions about genetic tests they and their families have undergone and to impose stiff financial penalties on employees who choose to keep such information private, thus empowering employers to coerce their employees into providing their genetic information.

If an employer has a wellness program but does not sponsor health insurance, rather than increasing insurance premiums, the employer could dock the paychecks of workers who dont participate.

The privacy concerns also arise from how workplace wellness programs work. Employers, especially large ones, generally hire outside companies to run them. These companies are largely unregulated, and they are allowed to see genetic test results with employee names.

They sometimes sell the health information they collect from employees. As a result, employees get unexpected pitches for everything from weight-loss programs to running shoes, thanks to countless strangers poring over their health and genetic information.

Sharon Begley can be reached at sharon.begley@statnews.com Follow Sharon on Twitter @sxbegle

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House Republicans would let employers demand workers’ genetic test results – STAT

What does it mean to be human? – The Independent

The Rock of Gibraltar appears out of the plane window as an immense limestone monolith sharply rearing up from the base of Spain into the Mediterranean. One of the ancient Pillars of Hercules, it marked the end of the Earth in classical times. Greek sailors didnt go past it. Atlantis, the unknown, lay beyond.

In summer 2016, Gibraltar is in the throes of a 21st-century identity crisis: geographically a part of Spain, politically a part of Britain; now torn, post-Brexit, between its colonial and European Union ties. For such a small area less than seven square kilometres Gibraltar is home to an extraordinarily diverse human population. It has been home to people of all types over the millennia, including early Europeans at the edge of their world, Phoenicians seeking spiritual support before venturing into the Atlantic, and Carthaginians arriving in a new world from Africa.

But Ive come to see who was living here even further back, between 30,000 and 40,000 years ago, when sea levels were much lower and the climate was swinging in and out of ice ages. It was a tough time to be alive and the period saw the species that could, such as birds, migrate south to warmer climes, amid plenty of local extinctions. Among the large mammal species struggling to survive were lions, wolves and at least two types of human: our own modern human ancestors, and the last remaining populations of our cousins, the Neanderthals.

By understanding more about these prehistoric people, we can learn about who we are as a species today. Our ancestors experiences shaped us, and they may still hold answers to some of our current health problems, from diabetes to depression.

Im picked up outside my hotel by archaeologists Clive and Geraldine Finlayson, in a car that itself looks fairly ancient. Typical for this crowded little peninsula, they are of diverse origins he, pale-skinned and sandy-haired, can trace his ancestry back to Scotland; she, olive-skinned and dark-haired, from the Genoese refugees escaping Napoleons purges. How different we humans can look from each other. And yet the people whose home I am about to visit truly were of a different race.

We dont know how many species of humans there have been, how many different races of people, but the evidence suggests that around 600,000 years ago one species emerged in Africa that used fire, made simple tools from stones and animal bones, and hunted big animals in large cooperative groups. And 500,000 years ago, these humans, known as Homo heidelbergensis, began to take advantage of fluctuating climate changes that regularly greened the African continent, and spread into Europe and beyond.

The use of tools could be part of a wider breadth of survival adaptations, including resistance to plague and HIV ( Tom Sewell)

By 300,000 years ago, though, migration into Europe had stopped, perhaps because a severe ice age had created an impenetrable desert across the Sahara, sealing off the Africans from the other tribes. This geographic separation enabled genetic differences to evolve, eventually resulting in different races, although they were still the same species and would prove able to have fertile offspring together. The race left behind in Africa would become Homo sapiens sapiens, or modern humans; those who evolved adaptations to the cooler European north would become Neanderthals, Denisovans and others whom we can now only get a glimpse of with genetics.

Neanderthals were thriving from Siberia to southern Spain by the time a few families of modern humans made it out of Africa around 60,000 years ago. These Africans encountered Neanderthals and, on several occasions, had children with them. We know this because human DNA has been found in the genomes of Neanderthals, and because everyone alive today of European descent including me has some Neanderthal DNA in their genetic makeup. Could it be that their genes, adapted to the northerly environment, provided a selective advantage to our ancestors as well?

After driving through narrow tunnels on a road that skirts the cliff face, we pull up at a military checkpoint. Clive shows the guard our accreditation and were waved through to park inside. Safety helmets on to protect from rockslides, we leave the car and continue on foot under a low rock arch. A series of metal steps leads steeply down the cliff to a narrow shingle beach, 60 metres below. The tide is lapping the pebbles and our feet must negotiate the unstable larger rocks to find a dry path.

Ive been concentrating so hard on keeping my footing that it is something of a shock to look up and suddenly face a gaping absence in the rock wall. We have reached Gorhams Cave, a great teardrop-shaped cavern that disappears into the white cliff face and, upon entering, seems to grow in height and space. This vast, cathedral-like structure, with a roof that soars high into the interior, was used by Neanderthals for tens of thousands of years. Scientists believe it was their last refuge. When Neanderthals disappeared from here, some 32,000 years ago, we became the sole inheritors of our continent.

I pause, perched on a rock inside the entrance, in order to consider this people not so different from myself once sat here, facing the Mediterranean and Africa beyond. Before I arrived in Gibraltar, I used a commercial genome-testing service to analyse my ancestry. From the vial of saliva I sent them, they determined that 1 per cent of my DNA is Neanderthal. I dont know what health advantages or risks these genes have given me testing companies are no longer allowed to provide this level of detail but it is an extraordinary experience to be so close to the intelligent, resourceful people who bequeathed me some of their genes. Sitting in this ancient home, knowing none of them survived to today, is a poignant reminder of how vulnerable we are it could so easily have been a Neanderthal woman sitting here wondering about her extinct human cousins.

Gorhams Cave seems an oddly inaccessible place for a home. But Clive, who has been meticulously exploring the cave for 25 years, explains that the view was very different back then. With the sea levels so much lower, vast hunting plains stretched far out to sea, letting people higher on the rock spot prey and signal to each other. In front of me would have been fields of grassy dunes and lakes wetlands that were home to birds, grazing deer and other animals. Further around the peninsula to my right, where the dunes gave way to shoreline, would have been clam colonies and mounds of flint. It was idyllic, Clive says. The line of neighbouring caves here probably had the highest concentration of Neanderthals living anywhere on Earth. It was like Neanderthal City, he adds.

Deep inside the cave, Clives team of archaeologists have found the remains of fires. Further back are chambers where the inhabitants could have slept protected from hyenas, lions, leopards and other predators. They ate shellfish, pine seeds, plants and olives. They hunted big game and also birds. There was plenty of fresh water from the springs that still exist under what is now seabed, Clive says. They had spare time to sit and think they werent just surviving.

Solid writing: Neanderthal engravings might be the first examples of text ( Tom Sewell)

He and Geraldine have uncovered remarkable evidence of Neanderthal culture in the cave, including the first example of Neanderthal artwork. The hashtag, a deliberately carved rock engraving, is possibly evidence of the first steps towards writing. Other signs of symbolic or ritualistic behaviour, such as the indication that Neanderthals were making and wearing black feather capes or headdresses as well as warm clothes, all point to a social life not so different to the one our African ancestors were experiencing.

Clive shows me a variety of worked stones, bone and antler. I pick up a flint blade and hold it in my hand, marvelling at how the same technology is being passed between people biologically and culturally linked but separated by tens of thousands of years. Other sites in Europe have uncovered Neanderthal-made necklaces of strung eagle talons dating back 130,000 years, little ochre clamshell compacts presumably for adornment, and burial sites for their dead.

These people evolved outside of Africa but clearly had advanced culture and the capability to survive in a hostile environment. Consider modern humans were in the Middle East perhaps 70,000 years ago, and reached Australia more than 50,000 years ago, says Clive. Why did it take them so much longer to reach Europe? I think it was because Neanderthals were doing very well and keeping modern humans out.

But by 39,000 years ago, Neanderthals were struggling. Genetically they had low diversity because of inbreeding and they were reduced to very low numbers, partly because an extreme and rapid change of climate was pushing them out of many of their former habitats. A lot of the forested areas they depended on were disappearing and, while they were intelligent enough to adapt their tools and technology, their bodies were unable to adapt to the hunting techniques required for the new climate and landscapes.

In parts of Europe, the landscape changed in a generation from thick forest to a plain without a single tree, Clive says. Our ancestors, who were used to hunting in bigger groups on the plains, could adapt easily: instead of wildebeest they had reindeer, but effectively the way of capturing them was the same. But Neanderthals were forest people.

It couldve gone the other way if instead the climate had got wetter and warmer, we might be Neanderthals today discussing the demise of modern humans.

Although the Neanderthals, like the Denisovans and other races we are yet to identify, died out, their genetic legacy lives on in people of European and Asian descent. Between 1 and 4 per cent of our DNA is of Neanderthal origins, but we dont all carry the same genes, so across the population around 20 per cent of the Neanderthal genome is still being passed on. Thats an extraordinary amount, leading researchers to suspect that Neanderthal genes must be advantageous for survival in Europe.

Interbreeding across different races of human would have helped accelerate the accumulation of useful genes for the environment, a process that would have taken much longer to occur through evolution by natural selection. Neanderthal tweaks to our immune system, for example, may have boosted our survival in new lands, just as we prime our immune system with travel vaccines today. Many of the genes are associated with keratin, the protein in skin and hair, including some that are linked to corns and others that play a role in pigmentation Neanderthals were redheads, apparently. Perhaps these visible variants were considered appealing by our ancestors and sexually selected for, or perhaps a tougher skin offered some advantage in the colder, darker European environment.

Some Neanderthal genes, however, appear to be a disadvantage, for instance making us more prone to diseases like Crohns, urinary tract disorders and type 2 diabetes, and to depression. Others change the way we metabolise fats, risking obesity, or even make us more likely to become addicted to smoking. None of these genes are a direct cause of these complicated conditions, but they are contributory risk factors, so how did they survive selection for a thousand generations?

Its likely that for much of the time since our sexual encounters with Neanderthals, these genes were useful. When we lived as hunter-gatherers, for example, or early farmers, we would have faced times of near starvation interspersed with periods of gorging. Genes that now pose a risk of diabetes may have helped us to cope with starvation, but our new lifestyles of continual gorging on plentiful, high-calorie food now reveal harmful side effects. Perhaps it is because of such latent disadvantages that Neanderthal DNA is very slowly now being deselected from the human genome.

While I can (sort of) blame my Neanderthal ancestry for everything from mood disorders to being greedy, another archaic human race passed on genes that help modern Melanesians, such as people in Papua New Guinea, survive different conditions. Around the time that the ancestors of modern Europeans and Asians were getting friendly with Neanderthals, the ancestors of Melanesians were having sex with Denisovans, about whom we know very little. Their surviving genes, however, may help modern-day Melanesians to live at altitude by changing the way their bodies react to low levels of oxygen. Some geneticists suspect that other, yet-to-be-discovered archaic races may have influenced the genes of other human populations across the world.

Interbreeding with Neanderthal and other archaic humans certainly changed our genes, but the story doesnt end there.

I am a Londoner, but Im a little darker than many Englishwomen because my father is originally from Eastern Europe. We are attuned to such slight differences in skin colour, face shape, hair and a host of other less obvious features encountered across different parts of the world. However, there has been no interbreeding with other human races for at least 32,000 years. Even though I look very different from a Han Chinese or Bantu person, we are actually remarkably similar genetically. There is far less genetic difference between any two humans than there is between two chimpanzees, for example.

The reason for our similarity is the population bottlenecks we faced as a species, during which our numbers dropped as low as a few hundred families and we came close to extinction. As a result, we are too homogeneous to have separated into different races. Nevertheless, variety has emerged through populations being separated geographically and culturally, in some cases over thousands of years. The greatest distinctions occur in isolated populations where small genetic and cultural changes become exaggerated, and there have been many of them over the 50,000 years since my ancestors made the journey out of Africa towards Europe.

According to the analysis of my genome, my haplogroup is H4a. Haplogroups describe the mutations on our mitochondrial DNA, passed down through the maternal line, and can theoretically be used to trace a migratory path all the way back to Africa. H4a is a group shared by people in Europe, unsurprisingly, and western Asia. It is, the genome-testing company assures me, the same as Warren Buffets. So what journey did my ancestors take that would result in these mutations and give me typically European features?

I was dumped by helicopter in the wilderness with two other people, a Russian and an indigenous Yukaghir man, with our dogs, our guns, our traps, a little food and a little tea. There we had to survive and get food and furs in the coldest place on Earth where humans live naturally minus 60 degrees.

Eske Willerslev lived for six months as a trapper in Siberia in his 20s. Separately, his identical twin brother Rane did the same. When they were teenagers, their father had regularly left them in Lapland to survive alone in the wilderness for a couple of weeks, fostering a passion for the remote tundra and the people who live there, and they went on increasingly lengthy expeditions. But surviving practically alone was very different. It was a childhood dream, but it was the toughest thing I have ever done, Eske admits.

These experiences affected the twins deeply, and both have been driven towards a deeper understanding of how the challenge of survival has forged us as humans over the past 50,000 years. It led Eske into the science of genetics, and to pioneering the new field of ancient DNA sequencing. Now director of the Centre for GeoGenetics at the Natural History Museum of Denmark, Eske has sequenced the worlds oldest genome (a 700,000-year-old horse) and was the first to sequence the genome of an ancient human, a 4,000-year-old Saqqaq man from Greenland. Since then, he has gone on to sequence yet more ancient humans and, in doing so, has fundamentally changed our understanding of early human migration through Europe and beyond. If anyone can unpick my origins, it is surely Eske.

First, though, I go to meet his twin Rane, who studied humanities, went into cultural anthropology and is now a professor at Aarhus University. Hes not convinced that his brothers genetic approach can reveal all the answers to my questions: There exists an uneasy relationship between biology and culture, he tells me. Natural scientists claim they can reveal what sort of people moved around, and they are not interested in having their models challenged. But this cannot tell you anything about what people thought or what their culture was.

To put this point to Eske, I visit him in his delightful museum office, opposite a petite moated castle and in the grounds of the botanic gardens there could scarcely be a more idyllic place for a scientist to work. Greeting him for the first time, just hours after meeting Rane, is disconcerting. Identical twins are genetically and physically almost exactly the same looking back, many years from now, at DNA left by the brothers, it would be all but impossible to tell them apart or even to realise that there were two of them.

Eske tells me that he is increasingly working with archaeologists to gain additional cultural perspective, but that genetic analysis can answer questions that nothing else can. You find cultural objects in certain places and the fundamental question is: Does that mean people who made it were actually there or that it was traded? And, if you find very similar cultural objects, does that mean there was parallel or convergent cultural evolution in the two places, or does that mean there was contact? he explains.

For example, one theory says the very first people crossing into the Americas were not Native Americans but Europeans crossing the Atlantic, because the stone tools thousands of years ago in America are similar to stone tools in Europe at the same time. Only when we did the genetic testing could we see it was convergent evolution, because the guys carrying and using those tools have nothing to do with Europeans. They were Native Americans. So the genetics, in terms of migrations, is by far the most powerful tool we have available now to determine: was it people moving around or was it culture moving around? And this is really fundamental.

What Eske went on to discover about Native American origins rewrote our understanding completely. It had been thought that they were simply descendants of East Asians who had crossed the Bering Strait. In 2013, however, Eske sequenced the genome of a 24,000-year-old boy discovered in central Siberia, and found a missing link between ancient Europeans and East Asians, the descendants of whom would go on to populate America. Native Americans can thus trace their roots back to Europe as well as East Asia.

And what about my ancestors? I show Eske the H4a haplotype analysed by the sequencing company and tell him it means Im European. He laughs derisively. You could be and you could be from somewhere else, he says. The problem with the gene-sequencing tests is that you cant look at a population and work back to see when mutation arose with much accuracy the error bars are huge and it involves lots of assumptions about mutation rates.

This is why ancient genetics and ancient genomics are so powerful you can look at an individual and say, Now we know we are 5,000 years ago, how did it look? Did they have this gene or not?

The things that we thought we understood about Europeans are coming unstuck as we examine the genes of more ancient people. For example, it was generally accepted that pale skin evolved so we could get more vitamin D after moving north to where there was little sun and people had to cover up against the cold. But it turns out that it was the Yamnaya people from much further south, tall and brown-eyed, who brought pale skins to Europe. Northern Europeans before then were dark-skinned and got plenty of vitamin D from eating fish.

It is the same with lactose tolerance. Around 90 per cent of Europeans have a genetic mutation that allows them to digest milk into adulthood, and scientists had assumed that this gene evolved in farmers in northern Europe, giving them an additional food supply to help survive the long winters. But Eskes research using the genomes of hundreds of Bronze Age people, who lived after the advent of farming, has cast doubt on this theory too: We found that the genetic trait was almost non-existent in the European population. This trait only became abundant in the northern European population within the last 2,000 years, he says.

It turns out that lactose tolerance genes were also introduced by the Yamnaya. They had a slightly higher tolerance to milk than the European farmers and must have introduced it to the European gene pool. Maybe there was a disaster around 2,000 years ago that caused a population bottleneck and allowed the gene to take off. The Viking sagas talk about the sun becoming black a major volcanic eruption that could have caused a massive drop in population size, which could have been where some of that stock takes off with lactose.

While ancient genomics can help satisfy curiosity about our origins, its real value may be in trying to unpick some of the different health risks in different populations. Even when lifestyle and social factors are taken into account, some groups are at significantly higher risk of diseases such as diabetes or HIV, while other groups seem more resistant. Understanding why could help us prevent and treat these diseases more effectively.

It had been thought that resistance to infections like measles, influenza and so on arrived once we changed our culture and started farming, living in close proximity with other people and with animals. Farming started earlier in Europe, which was thought to be why we have disease resistance but Native Americans dont, and also why the genetic risks of diabetes and obesity are higher in native Australian and Chinese people than in Europeans.

We sequenced a hunter-gatherer from Spain, and he showed clear genetic resistance to a number of pathogens that he shouldnt have been exposed to, says Eske. Clearly, Europeans and other groups have a resistance that other groups dont have, but is this really a result of the early agricultural revolution in Europe, or is something else going on?

Eskes analysis of people living 5,000 years ago has also revealed massive epidemics of plague in Europe and Central Asia, 3,000 years earlier than previously thought. Around 10 per cent of all skeletons the team analysed had evidence of plague. Scandinavians and some northern Europeans have higher resistance to HIV than anywhere else in the world, Eske notes. Our theory is that their HIV resistance is partly resistance towards plague.

It could be that the cultural changes we have made, such as farming and herding, have had less influence on our genes than we thought. Perhaps it is simply the randomness of genetic mutation that has instead changed our culture. Theres no doubt that where mutations have occurred and spread through our population, they have influenced the way we look, our health risks and what we can eat. My ancestors clearly didnt stop evolving once theyd left Africa were still evolving now and they have left an intriguing trail in our genes.

At the Gibraltar Museum, a pair of Dutch archaeology artists have created life-size replicas of a Neanderthal woman and her grandson, based on finds from nearby. They are naked but for a woven amulet and decorative feathers in their wild hair. The boy, aged about four, is embracing his grandmother, who stands confidently and at ease, smiling at the viewer. Its an unnerving, extraordinarily powerful connection with someone whose genes I may well share, and I recall Clives words from when I asked him if modern humans had simply replaced Neanderthals because of our superior culture.

That replacement theory is a kind of racism. Its a very colonialist mentality, he said. Youre talking almost as if they were another species.

This articlewas first published by Wellcomeon Mosaic and is republished here under a Creative Commons licence

Professor Eske Willerslev is a research associate at the Wellcome Trust Sanger Institute, which is funded by a core grant from the Wellcome Trust, which publishes Mosaic

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What does it mean to be human? – The Independent

Genetic sequencing offers same-day TB testing – HealthCanal.com (press release) (blog)

Researchers have for the first time shown that standard tuberculosis (TB) diagnostic tests can be replaced by a sub-24 hour genetic test applied to the TB bacteria in a patients sputum.

It currently takes up to two months to obtain the full diagnostic information for a patient with TB, as the bacteria grow very slowly in the laboratory. Scientists have sought for years to bypass this time-consuming step by examining the bacterial DNA directly from a sputum sample. However since most of the cells in sputum are human, it is difficult to spot the signal (TB DNA) within the noise (human and other bacteria) and even harder to find a method that might be affordable and practical across the world.

The new process, led by researchers from the University of Oxford and described in the Journal of Clinical Microbiology, rapidly processes the sputum to preferentially retain TB, using simple and relatively affordable materials, and then sequences and analyses the bacterial DNA. The Oxford team worked with researchers from the University of Nottingham, the Foundation for Medical Research, Mumbai, and Public Health England.

Until recently, DNA sequencing has required heavy machines and a well-equipped laboratory, which has limited its potential applications in the field. In this study, researchers have also shown that by using a new, real-time, handheld sequencing device (Oxford Nanopore MInION) they can achieve identical results, but with a process that might be applied anywhere in the world. In one example they achieved an effective turnaround time of 12.5 hours.

By using DNA sequencing, not only does this method detect drug-resistant TB bugs vital information for the patient but it also enables the tracking the geographical spread of strains, which is hugely valuable to public health workers, and something traditional tests cannot do.

TB is one of the top causes of death by infectious disease in the world, with 10.4 million cases of the disease in 2015, and 1.1 million deaths directly attributable to TB.

Dr Zamin Iqbal from the Wellcome Trust Centre of Human Genetics at Oxford University, who co-led the study, said: One of the great challenges with the management of TB is the need for rapid, comprehensive tests that do not require a hi-tech laboratory. We have shown that it is possible to get all information needed both for clinical management and for tracking disease spread, all within 24 hours of taking the sample from the patient. Further, by achieving this with a handheld device, we open the door to in-field diagnostic tests for TB.

Dr Antonina Votintseva, lead author, said: Although genome sequencing has been used increasingly in research for analysing TB, the limiting factor has continued to be the weeks spent culturing the bacteria in the laboratory. By developing an affordable and simple method for extracting M. tuberculosis DNA direct from sputum, and thereby cutting turnaround time to below 24 hours, we have taken a great step towards comprehensive point-of-care diagnosis.

There is more work to be done of course our goal is to return test results before the patient leaves their clinic, with huge potential for reducing transmission of the disease, and of drug resistance.

Dr Stephen Caddick, Wellcome Trust Director of Innovation, said: It can take many weeks for conventional tests for TB to provide results. Dr Iqbal and his team have made a significant breakthrough by developing a low-cost DNA extraction method which enables TB whole genome sequencing direct from patient samples and provides results in less than a day. The ability to use this technology to identify bacterial strains that may be resistant to antibiotic treatment, particularly in low and middle income countries, could be invaluable in the fight to tackle drug-resistant infections.

The full paper, Same-day diagnostic and surveillance data for tuberculosis via whole genome sequencing of direct respiratory samples, can be read in the Journal of Clinical Microbiology (JCM).

This research was funded by the Wellcome Trust, Royal Society and the NIHR Oxford Biomedical Research Centre.

University of Oxford

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Genetic sequencing offers same-day TB testing – HealthCanal.com (press release) (blog)

Short men are more likely to go BALD claim genetic scientists after exhaustive study – Mirror.co.uk

Keeping a thick head of hair into your twilight years could be more difficult if you’re short.

Researchers at the University of Bonn in Germany have linked hair loss in the human genome to height, skin colour and bone density.

We were able to identify 63 alterations in the human genome that increase the risk of premature hair loss,” said Dr Stefanie Heilmann-Heimbach, the leader of the study.

“Some of these alterations were also found in connection with other characteristics and illnesses, such as reduced body size.”

The data comes from analysing 11,000 men with premature balding and 12,000 that hadn’t experienced any hair loss.

The genetic findings also confirm the link between hair loss and an increased risk of prostate cancer.

The link with heart disease is much more complicated. Genes that reduce the risk were found along with genes that increase the risk.

“We have also found links to light skin colour and increased bone density,” explains Prof. Markus Nthen, Director of the Institute of Human Genetics at the University of Bonn.

“These could indicate that men with hair loss are better able to use sunlight to synthesise vitamin D. They could also explain why white men in particular lose their hair prematurely.”

However, specifically which molecular mechanisms create the link between premature hair loss and other illnesses is only partly understood.

The team says it will be looking into more detail about it in the future. But they did state that losing your hair doesn’t mean a fast-track to cancer.

“Men with premature hair loss do not need to be concerned,” reassured Prof. Nthen.

“The risks of illness are only increased slightly. It is, however, exciting to see that hair loss is by no means an isolated characteristic, but instead displays various relationships with other characteristics.”

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Short men are more likely to go BALD claim genetic scientists after exhaustive study – Mirror.co.uk

A mysterious medical condition gets a name – and a genetic link to deafness – Napa Valley Register

He loves dancing to songs, such as Michael Jacksons Beat It and the Macarena, but he cant listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs dont allow him to walk without support.

He is one in a million, literally.

Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the persons ability to communicate.

Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute.

It is relatively common for folks in deaf community to marry each other, he said, and whats key is whether each of the couple has a specific genetic misspelling that causes a syndrome called Waardenburg 2A. If yes, theres the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.

Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.

When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.

A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.

We just closed that discussion quick, Withrow recalled through an interpreter. It is sad when people think, Oh well, he is going to be disabled so go ahead and end his life. Its in Gods hands. It was not my decision to make, and it wasnt my husbands decision to make.

Even though he could not see, Orions right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to jumbo contact lensescalled shellsinserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.

COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.

COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: He would think its morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep.

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A mysterious medical condition gets a name – and a genetic link to deafness – Napa Valley Register

Study identifies 90 genes in fat that may contribute to dangerous diseases – Science Daily

Study identifies 90 genes in fat that may contribute to dangerous diseases
Science Daily
Unlike many genetics studies, the huge project looked at how genes' activity actually manifests in human patients — in this case, 770 Finnish men. The results will help doctors and scientists better understand how normal gene variations can affect

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Study identifies 90 genes in fat that may contribute to dangerous diseases – Science Daily

History is Altoona man’s hobby, and genetics is livelihood – Altoona Mirror

Mirror photo by Cherie Hicks Michael Farrow sits in his Altoona home next to an 1850 marble fireplace that came from his aunts house in Philadelphia. The author of Altoonas Historic Mishler Theatre will receive the 2016 Angel of the Arts award from the Blair County Foundation on Saturday.

Michael Farrow was educated in human genetics and spent a career in the emerging field. But he has spent his retirement indulging his love of history and the arts, roused by youthful summers spent at his grandparents in Philadelphia.

He researched and wrote Altoonas Historic Mishler Theatre, published last year. For that, the Blair County Arts Foundation is honoring him with its 2016 Angel of the Arts award at its annual dinner on Saturday.

He devoted three years of his life to it and is giving all the proceeds to the Mishler, said Kate Shaffer, BCAF executive director.

She said the 174-page hardback book created a magnificent retrospective of the Mishlers past, present and potential.

Farrow said the award surprises him because even though he was born and mostly raised in Altoona, he went away for his college and career.

Im just somebody who came back to town (six) years ago after being gone for years, he said.

Farrow wasnt supposed to grow up here. Less than a year after he was born, his father, a medical doctor, took the family and his practice to a Boston suburb to take care of soldiers returning from World War II.

But, in 1943, when Farrow was 4, his father contracted strep throat from a patient and died; penicillin, only recently discovered, was not widely available.

The family eventually returned to Altoona, where Farrow attended Adams Elementary, Roosevelt Junior High and Altoona High, graduating in 1957. Summers were spent crisscrossing Philadelphia for its historical sites, museums and art.

For 12 years, I was immersed in all this history, said Farrow.

Although his grandparents were of Lebanese descent having immigrated in the late 19th century they lived near a neighborhood of working-class Italian immigrants, who would sit on their front stoops, talk and listen to music blaring from inside. That is where Farrow picked up his love of opera.

He bragged on the Altoona schools music programs, and he was in the band. He also spent a lot of time in movie theaters there were 10 in Altoona in the 1950s, he noted.

Farrow didnt consider music or art as a career because he was afraid he would end up as a teacher, an occupation he didnt want.

Just as he was getting his bachelors in biology from Juniata College in 1961, details of DNA were emerging, even though research had been devoted to agriculture.

Farrow then went to West Virginia University, earning his masters and doctorate in human genetics in 1970. He spent a one-year fellowship as a genetic counselor at WVU, fielding questions from mothers in the regions hollows and researching drugs used in leukemia patients.

Genetics was an up and coming field and the more I got into it, I found it fascinating, he said.

Drug companies began studying how their drugs and chemicals affected human genetics. Farrow went to work for Wyeth in Philadelphia, creating its first genetics lab and conducting tests to determine the toxicologic effect of chemicals and drugs on bacteria, animals and humans.

Then the federal Environmental Protection Agency began researching the effects of pesticides on humans and contracted with research companies to set up testing procedures. Farrow left Wyeth for Washington, D.C., and got in on the ground floor of breakthrough government research.

He worked for several contractors, building genetics laboratories, developing testing protocols and researching the effects of pesticides and drugs on humans. He spent the last two dozen years of his career working to get drugs and chemicals registered for government controls.

Farrow retired in 2005 and decided five years later to return to Altoona to be near his siblings after his mother died.

He delved into history research, publishing his first book on all those movie theaters he had visited as a youngster. Now Showing: A History of Altoona and Blair County Theatres was published in 2013 and sold out in two months.

Then he took a month off before starting Altoonas Historic Mishler Theatre.

Farrow now works on myriad projects for the Blair County Historical Society and its Baker Mansion, as a board member, and researching historical venues and conducting lectures and tours, such as historical neighborhoods and churches.

The fourth-generation Lebanese-American also plans to write a history on the 100 or so families that immigrated from Lebanon and Syria to Altoona well over a century ago.

If you really love something that doesnt have a lot of opportunities, make it your hobby and make a living at something you love as well, he said.

That hobby, he said, also helps him support causes that he loves.

I like Altoona and all the arts. They need money, he said. How can I support them if Im not a millionaire? I can lend my talent. Plus I get a high finding the history and these little unknown tidbits that are fascinating.

Mirror Staff Writer Cherie Hicks is at 949-7030.

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History is Altoona man’s hobby, and genetics is livelihood – Altoona Mirror

Lab-grown humans soon – Times LIVE

Cambridge University researchers mixed two kinds of mouse stem cell and placed them on a 3D scaffold. After four days of growth in a tank of chemicals designed to mimic conditions in the womb, the cells formed the structure of a living mouse embryo.

The breakthrough has been described as a “masterpiece” in bioengineering that might eventually allow scientists to grow human embryos without sperm or an egg.

Growing embryos would help researchers study the early stages of human life so they could understand why some pregnancies fail but the research is likely to raise questions about what constitutes human life.

Currently scientists can carry out experiments on embryos left over from IVF treatments but they are in short supply and must be destroyed after 14 days.

Scientists say that being able to create unlimited numbers of embryos in the lab could speed up research and perhaps overcome some of the ethical boundaries.

“We think that it will be possible to mimic a lot of the embryological development events occurring before 14 days using human stem cells,” said the university’s Magdalena Zernicka-Goetz, who led the research.

“We are very optimistic that this will allow us to study key events of this critical stage of human development without having to work on [IVF] embryos. Knowing how development normally occurs will allow us to understand why it so often goes wrong.”

The embryos were created using genetically engineered stem cells coupled with extra-embryonic trophoblast stem cells, which form the placenta in a normal pregnancy.

Previous attempts to grow embryos using only one kind of stem cell proved unsuccessful because the cells would not assemble into their correct positions. But scientists discovered that when they added the second “placental” stem cells the two types of cell began to “talk to each other”, telling each other where to assemble.

Together they eventually melded to form an embryonic structure, with two distinct clusters of cells at each end and a cavity in the middle in which the embryo would continue to develop. The embryo would not grow into a mouse because it lacked the stem cells that would make a yolk sack.

However, such work raises ethical questions about the “sanctity” of human life and whether it should be manipulated or created in the lab. Critics warn that allowing embryos to be grown for science opens the door to designer babies and genetically modified humans.

David King, director of the watchdog group Human Genetics Alert, said: “What concerns me about the possibility of artificial embryos is that this might become a route to creating genetically modified or even cloned babies.

“Until there is an enforceable global ban on those possibilities, as we saw with mitochondrial transfer, this kind of research risks doing the groundwork for entrepreneurs, who will use the technologies in countries with no regulation.”

UK scientists will need to get permission from the Human Fertility and Embryology Authority before attempting to create human embryos using the technique, and experts have called for international dialogue before research can be allowed to progress.

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Lab-grown humans soon – Times LIVE

A mysterious medical condition gets a name – and a genetic link to deafness – Reading Eagle

Special To The Washington Post.

He loves dancing to songs, such as Michael Jackson’s “Beat It” and the “Macarena,” but he can’t listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs don’t allow him to walk without support.

He is one in a million, literally.

Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the person’s ability to communicate.

Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute.

“It is relatively common for folks in deaf community to marry each other,” he said, and what’s key is whether each of the couple has a specific genetic “misspelling” that causes a syndrome called Waardenburg 2A. If yes, there’s the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.

Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.

The study’s finding made things clearer for Heather Withrow, Orion’s mother. “It was more like an ‘Oh, cool, that explains it!’ kind of discovery,” she said from Austin, Texas, where the family lives.

When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.

A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.

“We just closed that discussion quick,” Withrow recalled through an interpreter. “It is sad when people think, ‘Oh well, he is going to be disabled so go ahead and end his life.’ It’s in God’s hands. It was not my decision to make, and it wasn’t my husband’s decision to make.”

The couple started to educate themselves about deaf-blindness – a combination that magnifies the effects of each condition. They contacted resources such as Connections Beyond Sight and Sound, a Maryland-based project that helps parents of deaf-blind children. A meeting with one of its specialists was empowering preparation. “It helped us. It let us know that we could celebrate and be happy when he was born, and not be surprised,” Withrow said.

Which is what happened. “We fell in love with him at first sight,” she said. As she has described on a blog she writes, Orion was long and lean, “with snowy white hair and lashes, ice-melting smile, rich laughter.”

Even though he could not see, Orion’s right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to “jumbo” contact lenses – called shells – inserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.

COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.

COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: “He would think it’s morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep.”

Such differences sometimes wear down his parents. “Despite all that, everything we do with him and everything he learns is so worth it,” Withrow said.

She frequently blogs about Orion’s experiences – she calls her site “A Mom’s Musings” – to help educate people about COMMAD and help other parents interact with deaf-blind children. At home, she and the rest of the family use a touch-based version of American Sign Language – teaching with objects such as a baby bottle, diaper and spoon – to communicate with Orion.

The caveat of the National Eye Institute’s recent study is that knowledge about how to care for and interact with children who have COMMAD is still in its infancy, Brooks said. “We are trying to understand the best ways to listen to the children,” he said.

For Withow, sharing knowledge is comforting.

“Orion’s life is just as important as everyone else’s,” she said, “and we hope he has the same opportunities as others.”

health-commad

_____

Keywords: deaf-blindness, rare genetic disorder, genetic mutation causing deafness, COMMAD, National Eye Institute

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A mysterious medical condition gets a name – and a genetic link to deafness – Reading Eagle

Human cloning a step closer after UK scientists create artificial embryos – RT

Human life could soon be replicated in a laboratory after scientists at the University of Cambridge successfully created artificial mouse embryos.

Scientists developed a mouse embryo structure using stem cells grown in the lab. The cells grew into primitive embryos that had identical internal structures to those that emerge during normal development in the womb.

The purpose of the research is to gain deeper insight into an embryos development just prior to implantation.

Read more

It marks a significant step forward, as previous attempts to grow embryo-like structures using only embryonic stem cells have only had limited success.

Im looking at it as a miracle of nature as well as trying to understand the process. Its incredibly beautiful that we can begin to understand those forces that give rise to self-organization during the earliest stage of development, Professor Zernicka-Goetz told the Guardian.

The researchers used a combination of genetically modified mouse cells, known as master cells, and a 3D scaffold, known as an extracellular matrix, on which the cells could grow. The resulting embryo looks almost identical to a natural mouse embryo.

If carried out on human embryos, the experiment could reveal the cause behind miscarriages and infertility, as it shows how genetic activity varies the way mammals grow right after conception.

The breakthrough, made by a team led by Magdalena Zernicka-Goetz, who last year discovered the way to keep embryos alive in the laboratory for up to 14 days, means that more embryos could be reproduced for research without sperm or egg donations, potentially also removing ethical issues surrounding embryo replication.

Both the embryonic and extraembryonic cells start to talk to each other and become organized into a structure that looks like and behaves like an embryo, said Zernicka-Goetz.

Read more

One in six pregnancies end in miscarriage, though there is still no explicit answer to how this happens.

If we can translate the knowledge into humans it will be incredibly powerful for understanding our own development at a stage when many human lives are lost, the professor said, according to the Times.

However researchers said although the artificial embryo closely resembles a natural one, it is unlikely to develop further into a healthy mouse fetus. This would require a yolk sac, which provides nourishment for the embryo and where blood vessels develop.

Experiments are currently carried out on leftover human embryos from In Vitro Fertilization (IVF), but these are often insufficient and can only be held for a maximum of 14 days under legal frameworks.

The outcome of the experiment has also been criticized by some concerned that it may pave the way for genetically modified (GM) humans.

What concerns me about the possibility of artificial embryos is that this may become a route to creating GM or even cloned babies, the director of Human Genetics Alert, Dr, David King, told the Telegraph.

Until there is an enforceable global ban on those possibilities this kind of research risks doing the scientific groundwork for entrepreneurs who will use the technologies in countries with no regulations.

The findings were published in the journal Science on Thursday.

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Human cloning a step closer after UK scientists create artificial embryos – RT

Assistant professor delivers genetic variation research on pine sawflies – UTA The Shorthorn

There is a lab in the University of Kentucky that smells like Christmas. This is where biology assistant professor Catherine Linnen conducts her research.

On Thursday, Linnen spoke about genetic variation caused by the environment. She is researching how insects called pine sawflies vary genetically based on their environment.

Her lab is filled with pine tree seedlings to feed and conduct experiments on these sawflies. Linnen is studying the color of the larvae and the body types and egg-laying patterns of mature females, she said.

Pine sawflies have different colors based on various factors. Surviving against predators and parasites is a major factor of this coloration. Some sawflies are white to camouflage themselves with the white-colored pine they live on. Others have spots to make it harder for parasites to penetrate their skin.

Linnen bred many species of pine sawflies and sped up the process by artificially hatching the eggs to be able to conduct her research faster, she said.

Pine sawflies mate on a host pine tree. The female then digs holes in pine needles to lay her eggs inside.

Linnen found that the smaller the pine leaf, the smaller the sawfly’s body is and the fewer eggs it lays, she said.

She also found genetic differences occurred most based on the host plant, she said. Linnen studied geographic, historical and biological factors, and none had the same impact on genetic variation as the type of plant eaten.

Andrew Corbin, quantitative biology doctoral student, attended Linnens lecture and said he was especially interested in the dynamic between the host and parasite.

Biology senior Gavin Verdier said hes interested in the human genetics implications of this research. He said it was refreshing to do something without a grade attached and to hear different experts speak on a subject.

@FornariLoL

news-editor.shorthorn@uta.edu

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Assistant professor delivers genetic variation research on pine sawflies – UTA The Shorthorn

Apple or pear waist-to-hip ratio and the risk of CHD and T2DM – Nature.com


Nature.com
Apple or pear waist-to-hip ratio and the risk of CHD and T2DM
Nature.com
Now, Emdin, Kathiresan and colleagues have used a human genetics tool known as Mendelian randomization to investigate whether a genetic predisposition to an elevated waist-to-hip ratio adjusted for body mass index (BMI) increases the risk of developing …

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Apple or pear waist-to-hip ratio and the risk of CHD and T2DM – Nature.com


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