Karen Kaspar / EyeEmGetty Images/EyeEm

Last October, scientists made a splash when they determined that on average, people can only live for about 115 years . That was the magic age at which the human body and brain just petered out; it wasnt designed to chug along much longer than that, they said.

That conclusion, published in the journal Nature , sparked hot debate among longevity researchers. Some felt the results vindicated what they felt to be the case, while others took issue with pinpointing a limitand such a specific one, at that.

Now, in the new issue of Nature , the editors invited scientists who criticized the original authors methods to lay out their arguments for why there isn't necessarily a limit to human aging. In the five resulting critiques, researchers tease apart the original authors methods, noting that they made assumptions that weren't warranted and overreached in their conclusions. (The researchers who concluded that human lifespan maxes out at 115 years stand by their findings, and they responded to each of the current authors criticisms.)

The new papers dont argue that human lifespan is limitless. But they note that its premature to accept that a maximum lifespan for humans exists. Its equally possible, they say, that humans will continue to live longer, and therefore might survive beyond 115 years. It was reasonable that when everybody lived to 50 that the very long lived, for whatever reasongenetics or luckwould make it to 80," says Siegfried Hekimi, professor of genetics at McGill University in Canada and one of the authors of a criticism. "If people live on average to 80 or 90, like they do now, then the very long lived make it to 110 or 120. So if the average lifespan keeps expanding, that would mean the long-lived would live even longer, beyond 115 years."

Overall, trends in longevity have been going up, and average lifespan has inched upward since even the 1990s. Back then, life expectancy in the U.S. was just around 50 years, while babies born today live to about 79 years on average. In any given year, however, if you look at the longest-lived, or the age at which the oldest person died, there may be considerable variation. There may be several years in which the maximum lifespan drops a bit, and other years in which it jumps.

MORE: How Silicon Valley Is Trying to Hack Its Way Into a Longer Life

The maximum lifespan in a population varies so much year to year that if you take the wrong snapshot of dataas Hekimi contends the original authors didit may look like there is a flattening of the age at which the longest lived die. If you throw a die several times every year that represents maximum lifespan, by chance alone you will see a lot of spread," he says. "Sometimes it will be low, sometimes it will be high.

For example, in coming up with the maximum lifespan of 115 years, the original papers researchers divided their population data into two groups: from 1968 to 1994 and 1995 to 2006. They determined that maximum lifespan peaked in the first era and started to plateau in the next. However, that coincides with the years in which Jeanne Calment, the oldest-lived human, was alive. She passed away in 1997 at age 122, so the plateau in maximum lifespan that the original researchers saw could be wholly attributed to her, Hekimi says. He and the other authors argue that the conclusion that human lifespan stops at 115 years was based on misinterpreting the data by seeing a plateau at 115 years where there was none.

Link:

There's No Known Limit To How Long Humans Can Live, Scientists Say - TIME

The Office of Cancer Clinical Proteomics Research announced today its multi-institutional program to further the convergence of proteomics with genomics, or proteogenomics, to better understand the molecular basis of cancer and accelerate research in these areas by spreading research resources within the scientific community. Among these participating Proteogenomic Translational Research Centers (PTRCs) is the Lester and Sue Smith Breast Center, part of the NCI-designated Dan L Duncan Comprehensive Cancer Center at Baylor College of Medicine, the only site executing these tasks in the South.

Bringing centers together under CPTAC

The announcement of the PTRCs builds on the recently launched Proteome Characterization Centers (PCCs) and Proteogenomic Data Analysis Centers (PGDACs), which comprehensively characterize biospecimens and integrate/analyze resulting proteogenomic data to extrapolate cancer knowledge.

Baylor also has been awarded as a PGDAC site.

These three variations of proteogenomic centers of excellence (PCCs, PGDACs, and PTRCs) form the interdisciplinary pillars of the NCIs Clinical Proteomic Tumor Analysis Consortium (CPTAC), which centers on using the analysis of genomic and proteomic data to eventually help solve clinically relevant cancer questions, such as drug response and drug sensitivity.

This is an emerging method of collaboration, said Dr. Bing Zhang, professor in the Lester and Sue Smith Breast Center and the Department of Molecular and Human Genetics at Baylor. The CPTAC program encourages and allows multiple institutions to come together to share and contribute varied types of data, which is then studied and analyzed in a cooperative, mutually beneficial way.

Data generation and clinical implications through PTRCs

The Proteogenomic Translational Research Center at Baylor is jointly run by the Broad Institute and focuses on breast cancer specifically. The two institutions, and other PTRCs, will be working to generate and analyze proteogenomics data to further understand the behavior and functions of cancer cells in the advancement of precision oncology.

In the past, there has been an information gap between the data generation and the clinical implications, said Zhang, who is a McNair Scholar. The creation of the PTRCs addresses that gap, linking the molecular data with the clinical data.

The PTRCs will apply proteogenomics to questions of toxicity and resistance in clinical trials, using NCI-sponsored clinical trial samples.

Proteogenomics has great potential to unleash new insights in oncology. The combination of proteomic, transcriptomic, and genomic data can now reproducibly identify proteins in cancer genomes that were difficult or not possible to infer by genomics alone, said Dr. Henry Rodriguez, director of the Office of Cancer Clinical Proteomics Research of the National Cancer Institute, National Institutes of Health. We envision that PTRCs will collaborate with NCI-sponsored clinical trials to expand/deepen our knowledge of drug response and resistance, ultimately improving our understanding of the cancer and the tumor proteome.

As a Proteogenomic Translational Research Center, we are transitioning the proteogenomics technology and bioinformatics into clinical utility, giving us a deeper look at what the cancer cells are doing in patients, said Dr. Matthew Ellis, director of the Lester and Sue Smith Breast Center and co-PI for the PTRC at Baylor. The ability to access the clinical trial samples from the NCI will help us achieve big wins in cancer research in big populations, as opposed to smaller wins in more limited populations.

Data analysis through PGDACs

Whereas the Proteogenomic Translational Research Centers integrate clinical trial data and clinical implications, the Proteogenomic Data Analysis Centers focus on applying algorithms and computational tools to develop proteogenomic data to help the NCI expand its study of clinical trial and tumor samples beyond the existing colon, breast and ovarian cancers.

The establishment of the Proteogenomic Data Analysis Center at Baylor is a truly exciting development for our proteomics group, said Dr. Anna Malovannaya, assistant professor in biochemistry and molecular biology at Baylor. Cancer is a multifaceted disease, where personalized molecular medicine is not onlymuch needed, butalsoattainable, given the right diagnostic tools. It is now clear,in large part due to research performed in CPTAC laboratories,that integration of genomic and proteomic characterization, rather than either discipline alone, propels our ability to understand the underlying etiology of this complex disease.

As Baylor is both a Proteogenomic Data Analysis Center and Proteogenomic Translational Research Center site, the physical proximity of the facilities and research teams is beneficial to the project, encouraging integration among groups of scientists.

Proteogenomics and advancing precision oncology

The CPTAC program is the largest effort in the nation to advance precision medicine through proteogenomics, added Zhang. Through the PTRC and PGDAC sites, Ellis, Zhang and their team members will develop novel bioinformatics infrastructure for the integrative analysis of cancer genomic and proteomic data to advance cancer research and clinical care.

Proteogenomics will soon lead the discussion in cancer treatment, continued Zhang. We will analyze the genomic and proteomic data from individual tumors in order to determine what and how to target within the tumor, thereby allowing us to provide highly specialized care.

Proteogenomic analyses, where Zhangs group has done pioneering work, require momentous bioinformatics effort and innovation to help researchers sift through the wealth of next-generation data and pinpoint only the most critical, causal and targetable molecular events, explained Malovannaya, also the academic director for the Mass Spectrometry Proteomics Core. We are looking forward to being a part of CPTAC through these new consortium centers, and to fully utilizing Baylors proteomics, informatics and clinical expertise in transforming cancer research, Malovannaya said.

Its an entirely new way of looking at clinical specimen to drive therapies, said Ellis, who also is a McNair Scholar. Not only are these centers executing very exciting work, but Baylor is the only site involved in this project our region, with speaks to its strengths in both clinical and bioinformatics areas.

Continued here:

Baylor named site for NCI proteogenomics analysis, research - Baylor College of Medicine News (press release)

June 26, 2017

For Hub City Times

MARSHFIELD Milwaukee Institute Inc. recently donated a high performance computing (HPC) system to Marshfield Clinic Research Institute (MCRI).

Dr. Peggy Peissig, director of MCRIs Biomedical Informatics Research Center, said the HPC will transform MCRIs ability to analyze patient health data and develop predictions that will assist physicians in identifying adverse events or ways to better care for patients.

That means that science done in our lab can be used quickly by providers to help patients during their appointments, Peissig said. Patients will receive the right treatments at the right dose at the right time. A person suffering from a particular disease can avoid a medication that could have an adverse effect. A patient can learn if they are susceptible to a certain type of cancer based on their genetic makeup. All this and more can be determined and used more quickly than we ever could before.

The gift will impact MCRIs ability to continue conducting research that ultimately improves patient care. The HPC system harnesses the power equivalent to hundreds of computers to solve problems and analyze large amounts of data.

We are in the era of big data, Peissig said. Medicine alone has nonillions of facts surrounding diagnoses, medications, laboratory, procedures, and genetics that we can analyze to unlock the mysteries of disease.

The Milwaukee Institute is a nonprofit organization focused on helping people learn, connect, and unlock the potential of technologies and high-growth businesses in the region. After deciding to move away from providing high performance computing assistance to academic and industrial researchers, the Institute offered to donate the computing equipment to MCRI to advance its research and patient care mission.

Our HPC system was configured for genomic and other health care-related applications, said John Byrnes, Milwaukee Institute chairman. Marshfield Clinic is a nationally recognized leader in genomic research, so we were pleased that the clinic can use this equipment to expand its associative studies in a very important way.

Marshfield Clinic has a long history of applying genomics to human health. Following a discovery by MCRIs Center for Human Genetics in 1989 involving variations in DNA sequences among humans, researchers in Marshfield developed the Marshfield genetic maps, which are used by researchers around the world to study the human genome.

Today, the Center for Human Genetics operates the countrys first population-based genetic research project, which works with health and genetic information provided by more than 20,000 central Wisconsin residents.

Visit link:

High performance computing system donated to Marshfield Clinic - Hub City Times

Newswise HOUSTON (June 26, 2017) Thirty-six percent of Hispanic families in the U.S. with a common form of retinitis pigmentosa got the disease because they carry a mutation of the arrestin-1 gene, according to a new study from researchers at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health.

Retinitis pigmentosa is a group of rare, genetic eye disorders in which the retina of the eye slowly degenerates. The disease causes night blindness and progressive loss of peripheral vision, sometimes leading to complete blindness. According to Stephen P. Daiger, Ph.D., senior author of the study, an estimated 300,000 people in the U.S. suffer from the disease, which gets passed down through families.

In the study published recently in Investigative Ophthalmology & Visual Science, UTHealth researchers found that in a U.S. cohort of 300 families with retinitis pigmentosa, 3 percent exhibited a mutation of the arrestin-1 gene. However, more than 36 percent of Hispanic families from the cohort exhibited the arestin-1 mutation and they all came from areas in the Southwestern U.S., such as Texas, Arizona and Southern California.

When I started studying retinitis pigmentosa in 1985, we set out to find the one gene that causes the disease. Thirty-three years later, weve found that more than 70 genes are linked to retinitis pigmentosa, said Daiger, a professor in the Human Genetics Center and holder of the Thomas Stull Matney, Ph.D. Professorship in Environmental and Genetic Sciences at UTHealth School of Public Health.

Some of the genes that cause retinitis pigmentosa are recessive, which means two mutations are required, and some are dominant, which means you only need one mutation. Arrestin-1 piqued Daigers interest because that particular mutation is dominant while all previously found mutations in the gene are recessive. This unexpected finding shows that even a single mutation in the gene is sufficient to cause the disease.

Daiger and his team have identified the genetic cause of retinitis pigmentosa for 75 percent of families in their cohort. Possible treatments for some forms of retinitis pigmentosa are being tested but are still limited. However, the speed at which companies are developing gene therapies and small molecule therapies gives reason to hope, he said. Daiger and his collaborators have begun to connect some of the patients in the retinitis pigmentosa cohort to clinical trials that treat specific genes.

I want our cohort families to know that even if there is not an immediate cure for their specific gene mutation, at this rate it wont be long until a therapy becomes available, said Daiger, who also holds the Mary Farish Johnston Distinguished Chair in Ophthalmology at McGovern Medical School at UTHealth.

UTHealth coauthors include Lori S. Sullivan, Ph.D.; Sara J. Browne, Ph.D.; Elizabeth L. Cadena; Richard S. Ruiz, M.D., and Hope Northrup, M.D. Additional co-authors are from Nationwide Childrens Hospital; Kellogg Eye Center at the University of Michigan; Retina Foundation of the Southwest; Casey Eye Institute at Oregon Health and Science University; Vanderbilt University and the Department of Molecular and Human Genetics at Baylor College of Medicine.

Support for the study, titled A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States, was provided by the William Stamps Farish Fund and the Hermann Eye Fund.

Additional support was provided by the National Institutes of Health (EY007142, EY009076, EY011500, EY010572 and K08-EY026650), a Wynn-Gund TRAP Award, the Foundation Fighting Blindness, the Max and Minnie Voelker Foundation and a grant to the Casey Eye Institute from Research to Prevent Blindness.

Read the rest here:

Gene Mutation Linked to Retinitis Pigmentosa in Southwestern US Hispanic Families - Newswise (press release)

It's like someone has pressed fast-forward on the gene-editing field: A simple tool that scientists can wield to snip and edit DNA is speeding the pace of advancements that could lead to treating and preventing diseases.

Findings are now coming quickly, as researchers can publish the results of their work that's made use of the tool, called CRISPR-Cas9.

The tool, often called CRISPR for short, was first shown to be able to snip DNA in 2011. It consists of a protein and a cousin of DNA, called RNA. Scientists can use it to cut DNA strands at very precise locations, enabling them to remove mutated parts of genes from a strand of genetic material.

In the past year alone, dozens of scientific papers from researchers around the world have detailed the results of studies some promising, some critical that used CRISPR to snip out and replace unwanted DNA to develop treatments for cancer, HIV, blindness, chronic pain, muscular dystrophy and Huntington's disease, to name a few.

"The pace of basic research discoveries has exploded, thanks to CRISPR," said biochemist and CRISPR expert Sam Sternberg, the group leader of technology development at atBerkeley, California-based Caribou Biosciences Inc., which is developing CRISPR-based solutions for medicine, agriculture, and biological research.

Although it will be a few more years before any CRISPR-based treatments could be tested in people, "hardly a day goes by without numerous new publications outlining new findings about human health and human genetics that took advantage" of this new tool, Sternberg told Live Science.

Of course, humans are not the only species with a genome. CRISPR has applications in animals and plants, too, from disabling parasites, like those that cause malaria and Lyme disease, to improving the crop yields of potatoes, citrus and tomatoes.

"[CRISPR] is incredibly powerful. It has already brought a revolution to the day-to-day life in most laboratories," said molecular biologist Jason Sheltzer, principal investigator at the Sheltzer Lab at Cold Spring Harbor Laboratory in New York. Sheltzer and his team are using CRISPR to understand the biology of chromosomes and how errors associated with them may contribute to cancer.

I am very hopeful that over the next decade gene editing will transition from being a primarily research tool to something that enables new treatments in the clinic, said Neville Sanjana, of the New York Genome Center and an assistant professor of biology, neuroscience and physiology at New York University.

Here, we take a look at the recent advances in the fights against 10 diseases that demonstrate CRISPR's capabilities, and hint at things to come.

Go here to see the original:

10 Amazing Things Scientists Just Did with CRISPR - Live Science

UC Davis

Mice Provide Insight Into Genetics of Autism Spectrum Disorders UC Davis Because mice and humans share on average 85 percent of similarly coded genes, mice can be used as a model to study how genetic mutations impact brain development. Changes in mouse DNA mimic changes in human DNA and vice-versa. In addition ...

Link:

Mice Provide Insight Into Genetics of Autism Spectrum Disorders - UC Davis

When the race to sequence the human genome was reaching a fever pitch in the early 2000s, when I was in high school, I couldnt help but wonder, What comes next? Once we had full access to our genetic blueprint, what more was there to do?

As it turned out, the understanding of human genetics is much more complicated than Id imagined as a teen. And understanding how human health hinges upon the strings of molecular letters within our DNA isnt always easy, either.

Researchers at Stanford, in collaboration with the biotechnology company Pacific Biosciences, are working to push past some of the limitations of current sequencing technology. Their goal is to make full-genome sequencing accessible for clinical use. The team has used a new sequencing technology called long-read sequencing in a patient for the first time. I described their work in a press release:

Current sequencing technologies cut DNA into words that are about 100 base-pairs, or letters, long, according to the studys senior author, Euan Ashley, DPhil, FRCP, professor of cardiovascular medicine, of genetics and of biomedical data science at Stanford. Long-read sequencing, by comparison, cuts DNA into words that are thousands of letters long.

This allows us to illuminate dark corners of the genome like never before, Ashley said. Technology is such a powerful force in medicine, he added. Its mind-blowing that we are able to routinely sequence patients genomes when just a few years ago this was unthinkable.

In this study, which appears in Genetics in Medicine, the team used long-read sequencing to examinea part of Ricky Ramons genes that hadnt been successfully sequenced with current technology. Ramon, who is 26, has had benign tumors throughout his body since he was about 7 years old, but doctors couldnt pinpoint a diagnosis. Especially problematic were the tumors in Ramons heart, which required open-heart surgery to remove.

The team thought Ramons symptoms were indicative of Carney complex, an extremely rare genetic condition, but the sequencing method they used initially did not identify any changes to the gene responsible.

Carney complex arises from mutations in the PRKAR1A gene, and is characterized by increased risk for several tumor types, particularly in the heart and hormone-producing glands, such as ovaries, testes, adrenal glands, pituitary gland and thyroid. According to the National Institutes of Health, fewer than 750 individuals with this condition have been identified.

The most common symptom is benign heart tumors, or myxomas. Open heart surgery is required to remove cardiac myxomas; by the time Ramon was 18 years old, hed had three such surgeries.

The long-read sequencing gave Ramons team of doctors at Stanford a confirmed diagnosis of Carney complex, which allows them to make better-informed recommendations about his treatment.

Though having confirmation of a permanent genetic condition can be disheartening at times, Ramon told me: Im in good hands Im glad to be here.

Previously: Clinical guidance on genetic testing: A Q&A, New tool to ID disease-causing genetic changes developed at Stanfordand Mystery solved: Researchers use genetic tools to diagnose young girls rare heart condition Photo by MIKI Yoshihito

Excerpt from:

New genome sequencing method helps diagnose a rare genetic condition - Scope (blog)

Researchers from the University of Tuebingen and the Max Planck Institute for the Science of Human History in Jena, both in Germany, have decoded the genome of ancient Egyptians for the first time, with unexpected results.

Modern Egyptians, by comparison, share much more DNA with sub-Saharan populations.

The findings have turned years of theory on its head, causing Egyptologists to re-evaluate the region's history while unlocking new tools for scientists working in the field.

Extracting genome data is a new frontier for Egyptologists, however.

Scientists took 166 bone samples from 151 mummies, dating from approximately 1400 B.C. to A.D. 400, extracting DNA from 90 individuals and mapping the full genome in three cases.

Previous DNA analysis of mummies has been treated with a necessary dose of skepticism, explains professor Johannes Krause of the Max Planck Institute.

"When you touch a bone, you probably leave more DNA on the bone than is inside (it)," he argued. "Contamination is a big issue. ... Only in the last five or six years has it become possible to actually study DNA from ancient humans, because we can now show whether DNA is ancient or not by (its) chemical properties."

Heat and high humidity in tombs, paired with some of the chemicals involved in mummification, all contribute to DNA degradation, the paper adds, but it describes its findings as "the first reliable data set obtained from ancient Egyptians."

Analyzing samples spanning over a millennium, researchers looked for genetic differences compared with Egyptians today. They found that the sample set showed a strong connection with a cluster of ancient non-African populations based east of the Mediterranean Sea.

Krause describes the far-reaching data set gained from looking at mitochondrial genomes: "This is not just the DNA of one person. It's the DNA of the parents, grandparents, grandparents' parents, grand-grand-grandparents' parents and so forth.

"So if we don't find sub-Saharan African ancestry in those people, that is pretty representative, at least for Middle Egypt."

Krause hypothesizes that ancient Northern Egypt would be much the same, if not more, linked to the Near East. Ancient Southern Egypt might be a different matter, however, where populations lived closer to Nubia, home of the "Black Pharaohs" in what is now Sudan.

"The genetics of the Abusir el-Meleq community did not undergo any major shifts during the 1,300-year timespan we studied," said Wolfgang Haak, group leader at the Max Planck Institute.

This period covered the rule of Alexander the Great (332-323 B.C.), the Ptolemaic dynasty (323-30 B.C.) and part of Roman rule (30 B.C.-A.D. 641). Strict social structures and legal incentives to marry along ethnic lines within these communities may have played a part in the Egyptians' genetic stasis, the paper speculates.

"A lot of people has assumed foreign invaders ... brought a lot of genetic ancestry into the region," Krause said. "People expected that through time, Egypt would become more European, but we see the exact opposite."

Modern Egyptians were found to "inherit 8% more ancestry from African ancestors" than the mummies studied. The paper cites increased mobility along the Nile, increased long-distance commerce and the era of the trans-Saharan slave trade as potential reasons why.

The team's findings do come with one obvious caveat: "All our genetic data (was) obtained from a single site in Middle Egypt and may not be representative for all of ancient Egypt," the paper concedes.

While the study might be limited in scope, the team believes it has made some technical breakthroughs.

"I expect there will be a ton of ancient Egyptian mummy genomes (mapped) in the next couple of years," Krause said, adding that "multiple groups" are following his team's lead.

"There's always more research we can do. This is not the end. It's just the beginning."

See the article here:

DNA discovery reveals genetic history of ancient Egyptians - CNN

Beneath the Bering Sea lies potential. There archeologists and paleoanthropologists suspect there is evidence that could explain genetic diversity in modern populations and solve the mysteries of ancient human migration patterns piecing the two pieces of the puzzle together.

But for now, we must find the clues that lie along the edges. University of Alaska researchers have published genetic analysis of two such clues: an infant and pre-term fetus discovered in the Upward Sun River region of Alaska. Although they were buried in the same grave, the neonates were not maternally related. They had differing mitochondrial DNA haplotypes. Those haplotypes are used to identify maternally related humans because the DNA in the mitochondria of our cells are only passed down from our mothers from the mitochondria of her egg cell. Maternal haplotypes help geneticists identify a lineage of people.

Despite the age of the remains, over 11,000 years, geneticists were able to recover DNA, then copy it enough times to read the signature. Mitochondrial DNA is easier to tease out of the bone because there are hundreds of copies in each cell, rather than just one copy of nuclear genetic material.

While the find unearthed a new mystery: why these infants were buried together, it also begs the question of how two such un-related infants ended up in the same group of people at the same time. Carl Zimmer at the New York Times explained:

The researchers can only speculate how an infant and a fetus from different mothers ended up in the same grave. They might have had the same father, or they might have belonged to different families who suffered terrible losses at the same time. But the significance of the DNA found at Upward Sun River extends far beyond the story of two children. It sheds light on how people first moved into the Americas.

The nature of the Bering crossing is at heart: was the land form a highway, or an RV park? The archaeologists and geneticists who studied the babies think the fact that they are genetically unrelated is evidence to bolster the Beringian Standstill Hypothesis. Instead of a constant movement of people from Siberia into North America, the standstill hypothesis suggests that ancient humans moved into the area about 25,000 years ago and then stayed there for about 10,000 years. That would be enough time to build up significant genetic diversity in the populations living on the tundra as people moved, bred and moved again. That diversity was carried Eastward when the glaciers blocking the path into North America receded when the last ice age ended.

The standstill hypothesis is one way to explain genetic diversity patterns. Other scientists have suggested humans came over in one or three waves with possible additional migrations from Aleutian islands and parts of Europe (although that theory, the Soultrean Hypothesis, is falling out of favor based on evidence). Those theories could also explain genetic diversity. But, scientists think the mitochondrial DNA of the Upward Sun River children best supports the Standstill hypothesis. And, with most of Beringia covered in sea water, its likely to be a long time before we find better evidence.

The finding is also rich because of its clues into the culture of the people at that time and place, writes Yereth Rosen at Arctic Newswire:

The Upward Sun River site was a natural place for human habitation, he said. It was perched on the edge of ecosystems that provided different resources a floodplain where salmon could be caught and uplands where game animals roamed. It is possible that the Paleoindians had a more nuanced, more sophisticated use of the landscape, and a varied diet similar to a more modern traditional subsistence diet for people of the region, Ben Potter of University of Alaska Fairbanks said.

Meredith Knight is a frequent contributor to the human genetics section for Genetic Literacy Project and a freelance science and health writer in Austin, Texas. Follow her@meremereknight.

Read the rest here:

Settling of the Americas: Searching for pieces of the puzzle - Genetic Literacy Project

Disrupting a problematic gene in brain cells can reverse Huntingtons disease pathology and motor symptoms in a mouse model of the inherited neurological disorder, Emory scientists report.

The researchers used CRISPR/Cas9 gene editing, delivered by a viral vector, to snip part of a gene producing toxic protein aggregates in the brains of 9-month old mice. Weeks later, where the vector was applied, aggregated proteins had almost disappeared. In addition, the motor abilities of the mice had improved, although not to the level of control mice.

The results were published June 19, 2017 inJournal of Clinical Investigation.

The findings open up an avenue for treating Huntingtons as well as other inherited neurodegenerative diseases, although more testing of safety and long-term effects is needed, says senior author Xiao-Jiang Li, MD, PhD, distinguished professor of human genetics at Emory University School of Medicine.

Huntingtons disease is caused by a gene encoding a toxic protein (mutant huntingtin or mHTT) that causes brain cells to die. Symptoms commonly appear in mid-life and include uncontrolled movements, balance problems, mood swings and cognitive decline.

Touted widely for its potential, CRISPR/Cas9 gene editing has not been used to treat any neurodegenerative disease in humans. Several concerns need to be addressed before its use, such as effective delivery and the safety of tinkering with DNA in brain cells. A similar approach, but using a different technology (zinc finger nucleases), was reported for Huntingtons disease in 2012.

The mice used in this study have a human mutant huntingtin gene replacing one of the mouse huntingtin genes. In these mice, motor problems and aggregated mutant huntingtin can be observed around the age of 9 months.

When planning gene editing, the scientists selected guide sequences that targeted both the normal copy and the disease-driving copy of the huntingtin gene. This non-allele specific approach would not need to be customized to the patients genome, unlike other gene editing proposals for Huntingtons disease.

The Emory researchers have previously shown that mice older than four months do not need the huntingtin gene to stay healthy, suggesting that treatment strategies that aim to shut off both copies of the gene in adult humans could be safe.Clinical studies have begun of such treatments, which probably will require continuous administration of the gene-silencing drug. In contrast, a gene editing treatment could be more durable, if it hits enough cells.

To get CRISPR/Cas9-guided enzymes into brain cells, the researchers harnessed a widely used gene therapy vehicle based on AAV (adeno-associated virus). The scientists injected viral vectors carrying CRISPR/Cas9 into the striatum region of the brains of Huntingtons disease model mice at the age of 9 months. The striatum is a region of the brain that controls body movement and motor function.

This led to a dramatic decrease in aggregated mutant huntingtin in the striatum three weeks later. The study reveals the capacity of brain cells to heal themselves if the genetic source of the toxic proteins is removed, the scientists say.

In comparison with control Huntingtons mice, CRISPR/Cas9-injected mice showed significant improvements on tests of motor control, balance and grip strength, although they did not recover to the point where they performed as well as control mice.

Addressing genetic safety concerns, the researchers showed that in brain cells, frameshift mutations triggered by CRISPR/Cas9 occurred predominantly within the huntingtin gene and not in other potential off-target genes.However, the long-term effects and safety of injecting AAV in the brain to express CRISPR/Cas9 remain to be rigorously tested before applying this approach to patients, Li says.

The co-first authors of the paper are postdoctoral fellows Su Yang, PhD at Emory University and Renbao Chang, PhD at Institute of Genetics and Developmental Biology, Chinese Academy of Sciences.

Emory co-authors include Zhaohui Qin, PhD, associate professor of biostatistics, Peng Jin, PhD, professor of human genetics, and Shihua Li. MD, professor of human genetics. Xiao-Jiang Li also is affiliated with the Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University.

The research was supported by the National Institute of Neurological Disorders and Stroke (NS036232, NS101701, NS095279) and the National Natural Science Foundation of China (grant 91332206).

See more here:

Gene editing reverses Huntington's in mouse model - ScienceBlog.com (blog)

Clay Siegall, CEO, Seattle Genetics

In the wake of Seattle Genetics announcement that a disturbing tilt in deaths pointed to a likely safety problem for its late-stage cancer drug vadastuximab talirine (SGN-CD33A), the FDA has stepped in to yank the IND and officially put any human testing on hold.

The biotech $SGEN reported the FDAs move in a filing with the SEC this morning.

Seattle Genetics had already hit the brakes on its R&D work on the drug three days ago, scrapping the Phase III for acute myeloid leukemia and ordering a halt to any other testing until they can get a better read on the situation. It will also have to convince regulators that the drug is safe for testing after the FDA had lifted its first clinical hold on the drug just three months ago. That first hold on its early-stage work came after four patients died.

Those deaths were linked to liver toxicity, a classic red flag on safety. But this time one of the few clues provided by Seattle Genetics is that liver toxicity did not appear to be behind the disturbing rate of deaths investigators were seeing.

Back in March the biotech reported that it was getting restarted on the clinical work after it came up with revised eligibility criteria and stopping rules for veno-occlusive disease.The FDA agreed to lift the hold only two months after it was dropped on Seattle Genetics.

With its big Immunomedics deal axed by activists and its lead clinical drug in big trouble, Seattle Genetics CEO Clay Siegall will come under heavier pressure to diversify beyond Adcetris.

News reports for those who discover, develop, and market drugs. Join 16,000+ biopharma pros who read Endpoints News articles by email every day. Free subscription.

Continued here:

FDA padlocks any new human tests on Seattle Genetics' cancer drug in the wake of more deaths - Endpoints News

Certis Bolsters Biopesticide Business Portfolio with Acquisition

As I was writing a recentstory on using the citrus tristeza virus to deliver a knock-out blow to the psyllid, I had one of those Gee Whiz moments. The idea of inserting a jellyfish gene into a citrus plant and glowing phloem sounds like science fiction, but it is reality. Just read the story.

The story informs us the ultimate goal of this particular research is to use RNAi technology to kill the psyllid. Scientists are not there yet, but they are making progress. And all the while, they are gaining an even deeper understanding of genetics. Every step is a building block to a highly advanced future.

You will hear more and more about CRISPR/Cas9 technology. The breakthrough gene editing technology was only discovered in 2012 and already is being talked about as potential cancer and HIV cures. The technology is remarkably simple, versatile, and repeatable. The CRISPR technique has worked in just about every cell type tried plant and animal. Scientists are studying CRISPR for applications to fight HLB and the psyllid. USDA and UF/IFAS have several projects well underway using the technology.

Whether it is human genetics or genetics applied to plants, knowledge is growing at a dizzying pace. That all adds up to us being on the cusp of some remarkable breakthroughs in human medicine and in agriculture, like dare I say it a cure for HLB.

Ray Kurzweil is a well-known futurist who will blow your mind when it comes to future predictions. He predicted the rapid rise of the Internet and the fall of the Soviet Union. He has been given an 86% accuracy rate for his predictions. He currently serves as Googles Director of Engineering.

Kurzweil predicts by 2045, technology will become smarter than humans. And much sooner, by 2029, technology will be just as smart as humans. What does that mean? It means that technological advancements in computing, genetics, precision agriculture, and just about everything you can think of will be happening so rapidly it will be hard to get your head around it.

Kurzweil also predicts that by 2019, Wi-Fi access will be ubiquitous, meaning everywhere you go, Wi-Fi will be there. That is well on the way toward reality. When it comes to diseases, he says by 2020 most of them will go away via advances with genetics and nanobots that are placed inside our bodies to carry out curative and health maintenance functions. Thats right. Robots inside our bodies by 2020.

Id encourage you to look into Kurzweils predictions further because they are pretty amazing. And, I think it is important to be aware of what lies right before us as this technology boom unfolds. It will be exhilarating and scary at the same time. While we will have the ability to fix many of the maladies of mankind, we also must manage this boom as ethically as possible. That wont be easy because access and speed of advancement is increasing exponentially.

But, there is no wishing the future away. It is already upon us. And, the benefits will be great. Just look at transgenic/GMO technology, which soon will seem like ancient science, and the benefits it has already brought us allowing us to grow crops more efficiently and sustainably. Unleashing the technology boom will bring us to a better fed, healthier, and cleaner planet. Exciting times are ahead of us. Buckle up. It is going to be a wild ride.

More:

Technology Boom Boosting Farm Life to a New Level [Opinion] - Growing Produce

One spring morning in 1963, a Soviet scientist named Lyudmila Trut was making the rounds at a commercial fox farm, visiting several litters of three-week-old fox pups. As she approached one cage, a fuzzy male pup named Ember began to wag his tail. This simple, back-and-forth movement was a startling sight. Several years earlier, Trut and another scientist had launched an audacious experiment to solve the mysteries surrounding dog domestication by trying to replicate the process in foxes. Embers restless tail was the best sign yet that they were succeeding.

BOOK REVIEW How to Tame a Fox (and Build a Dog): Visionary Scientists and a Siberian Tale of Jump-Started Evolution, by Lee Alan DugatkinandLyudmila Trut (University of Chicago, 240 pages).

A six-decade project that challenged conventional wisdom about domestication and evolution and is still yielding new scientific insights.

Wagging their tails in response to humans is one of the signature behaviors of dogs, and until that day, they were the only animals observed to do so, Trut and the biologist Lee Alan Dugatkin write in their new book, How to Tame a Fox (and Build a Dog). And yet, here was Ember, who appeared to be wagging his tail due to a new emotional response to people, and if other pups also began to do so, that might prove to be a big step in the process of domestication. This comprehensive book provides an inside look at one of the most remarkable and longest-running experiments in science. Its a rich and fascinating story of a six-decade project that challenged conventional wisdom about domestication and evolution and is still yielding new scientific insights today.

The fox experiment was the brainchild of Dmitri Belyaev, a geneticist who worked at Moscows Central Research Laboratory on Fur Breeding Animals, where he was tasked with helping fox breeders produce animals that would earn more money for the Soviet Unions lucrative fur industry. But as he worked with the often-ferocious foxes that lived on Soviet fur farms, he began to wonder how humans had managed to tame the wolf a close relative of the fox into the docile domestic dog. Fossil evidence provided snapshots of how wild animals had changed over the course of domestication, but a major riddle remained unsolved: How had the process begun in the first place? As Dugatkin and Trut put it, How had fierce wild animals, intensely averse to human contact, become docile enough for our human ancestors to have started breeding them?

Belyaev had a theory. In his own work, he had noticed that while most foxes were aggressive or agitated around people, a few seemed to have an innate calmness. Perhaps, he speculated, all our ancestors had done was breed the wild wolves that seemed to be the most naturally docile, exhibiting the least fear of and aggression toward humans. And over evolutionary time, as our early ancestors had begun raising them and selecting for this innate tameness, the animals became more and more docile, Dugatkin and Trut write. He thought that all of the other changes involved in domestication had been triggered by this change in the behavioral selection pressure for tameness.

Belyaev decided to test his theory by putting it into action. He would start with wild foxes, breeding the tamest ones he could find over the course of many generations. If he could basically turn a fox into a dog-like animal, he might solve the longstanding riddle of how domestication comes about, the authors write.

The idea wasnt just scientifically bold it was politically risky. Stalins government had banned genetics research in 1948, calling it a bourgeois perversion, and many leading geneticists had been fired, arrested, imprisoned, and even executed. (Belyaevs older brother, a prominent geneticist, was among those killed.) So Belyaev would have to be discreet about the real purpose of his experiment, spinning it as physiological, rather than genetic, research.

In 1958, he recruited Trut, a young animal behaviorist, to run the experiment. She almost immediately began to have doubts about the endeavor. Having had no prior experience with foxes, Lyudmila was taken aback at first by how aggressive they were, Dugatkin and Trut write. Becoming acquainted with these fire-breathing dragons, as she called them, snarling and lunging at her when she approached their cages, she found it hard to believe that they could ever be tamed. Still, she would try. Each morning, she donned a pair of thick gloves and began visiting each fox, carefully observing its reaction as she approached, opened its cage, and slid a stick inside. She selected the calmest foxes, bred them together, and then selected the tamest of the pups to parent the next generation.

It didnt take long for dog-like traits to emerge. By the fourth generation and just the fourth year of the experiment Ember was wagging his tail. By the sixth, about 2 percent of the pups would lick Truts hand, roll over for belly rubs, and cry when their human caretakers walked away. By the following generation, 10 percent of the pups were displaying these behaviors. There seemed to be no doubt at all that these pups, from as early as they could walk, eagerly sought contact with humans, Dugatkin and Trut write. These tame foxes also seemed to have extended puppyhoods, remaining playful and curious well past the age that wild fox pups typically mature. Their bodies changed, too; the tame foxes developed curly tails, floppy ears, and piebald coats.

Maybe it wasnt the foxes underlying genetic code that was changing, but how the genes were regulated or expressed. The idea was wildly ahead of its time.

These new traits had appeared mind-bogglingly fast, over far fewer years and generations than evolution was thought to occur. The speed and nature of the changes led Belyaev to propose a radical theory. Belyaev had realized that most of the changes theyd seen in the foxes involved changes in the timing of when traits turn on and off, Dugatkin and Trut write. Many of the changes they were observing in the tamer foxes involved retaining a juvenile trait longer than normal. The whimpering was a youthful behavior that normally stopped as foxes matured. So was calmness; fox pups are serenely calm when theyre first born, but as they age, foxes typically become quite high-strung. It occurred to Belyaev that maybe it wasnt the foxes underlying genetic code that was changing from one generation to the next, but how the animals genes were regulated or expressed; certain genes that were already present in wild foxes might have become more or less active in the tame ones, or have turned on or off at different stages of development.

The idea was wildly ahead of its time, and it would be decades before research would bear it out. In the meantime, Belyaev and Trut kept breeding foxes. They built their own experimental fox farm in Siberia, and Trut moved into a nearby house with some of the tamest foxes, which quickly adopted behaviors common in pet dogs. (A visiting researcher later demonstrated that the tame foxes had the same high level of social intelligence that dogs did and better social cognition than the wild foxes.) Belyaev died in 1985, but two decades later, researchers finally validated his hypothesis, documenting differences in gene expression between tame and wild or aggressive foxes. (Gene expression isnt the entire story researchers have also found changes in gene sequence in the tame foxes but its clearly an important part of it.)

Dugatkin and Trut deftly synthesize scientific findings from fields ranging from genetics to animal cognition and openly grapple with some provocative unanswered questions: How much further can scientists push these foxes? What do the foxes tell us about the domestication of more distant species, such as cows and pigs? And might they teach us something about our own evolution? (Belyaev proposed that as we organized ourselves into ever-larger social groups, there would have been a selective advantage for individuals who were calm and comfortable around others, rather than aggressive and fearful. Essentially, we are domesticated, but in our case self-domesticated, primates, Dugatkin and Trut write.) The answers to these questions wont come easy, but the experiment is still running; considering what scientists have learned so far, theres no telling what evolutionary insights might emerge if they keep Belyaevs legacy and his line of tame foxes alive for another 60 years.

Emily Anthes, who has written for Undark, The New York Times, The New Yorker, Wired, and Scientific American, among other publications, is the author of Frankensteins Cat: Cuddling Up to Biotechs Brave New Beasts.

See the original post:

Did That Fox Just Wag Its Tail? Inside a Bold Genetics Experiment - Undark Magazine

Theme: Novel Approaches to Unraveling the Human Genome and Genetic Disorders

Human Genetics Congress 2017 welcomes you to attend the 3rd World Congress on Human Genetics & Genetic Disorders which is going to be held at Toronto, Canada during October 20-21, 2017 with the theme of Novel Approaches to Unraveling the Human Genome and Genetic Disorders We cordially invite all the participants interested in sharing their knowledge and research in the arena of study of organisms and their relationship with Life Science.

Human Genetics do have boundaries, but determining where one Genetics starts and another begins can often be a challenge. We anticipate more than 300 participants around the globe with thought provoking keynote lectures, oral and poster presentations. The attending delegates include Editorial Board Members of related journals. The scope of Human Genetic-2017 is to bring the advancements in the field of science of all the relations of Genetics, all organisms in Life Science.

Follow us: https://www.facebook.com/Human-Genetics-Congress-2017-1427724823932698/

LinkedIn: https://www.linkedin.com/in/preeyanca-williams-5a3546143/

Email 1: humangeneticscongress@geneticconferences.com

Email 2: humangenetics@conferencescanada.org

To personalize the content you see on Technology Networks homepage, Log In or Subscribe for Free

See more here:

3rd World Congress on Human Genetics & Genetic Disorders - Technology Networks

FINDINGS

A new study by scientists at UCLA found that when mice eat a high-fat diet, the cells in their small intestines respond the same way they do to a viral infection, turning up production of certain immune molecules and causing inflammation throughout the body. The scientists also found that feeding the mice tomatoes containing a protein similar to that in HDL, or good cholesterol, along with the generic cholesterol drug Ezetimibe, reversed the inflammation.

The results could lead to new types of drugs, targeting the intestinal cells, to reduce peoples risk of heart attacks and strokes, or to treat other conditions linked to inflammation, including cancer and inflammatory bowel disease.

Researchers already knew that prolonged obesity can cause inflammation of the liver and fat tissues, and that this inflammation contributes to the development of diabetes and heart disease. Studies have also shown that higher levels of high-density lipoprotein, or HDL, cholesterol, reduces a persons risk of heart disease.

The UCLA research team, led by Alan Fogelman, chair of the department of medicine at the David Geffen School of Medicine at UCLA,previously developed genetically engineered tomatoes that contained 6F, a protein resembling the main protein in high-density lipoprotein. In early experiments on 6F, they found that the compound was active in the small intestines of mice, and that it reduced inflammation. But exactly how it did this was unclear.

The scientists fed either a standard chow or a high-fat, high-cholesterol Western diet to mice that were especially prone to developing clogged arteries. They also treated some of the mice with either 6F, in the form of a tomato concentrate containing the protein, Ezetimibe, or both. After two weeks, cells from the small intestines of the mice were collected and blood samples were taken. The researchers measured cholesterol levels as well as the levels of inflammatory and immune molecules in both the intestines and throughout the body.

The findings shed light on the molecular details of how high-fat diets cause inflammation in the body, by making the intestines activate the pathway normally triggered by a virus. This suggests that blocking this immune reaction as 6F and Ezetimibe do may treat inflammatory diseases and decrease peoples risk of heart attack and stroke.

The authors of the study are all faculty and researchers at UCLA, affiliated with the Department of Medicine; Department of Molecular and Medical Pharmacology; Department of Human Genetics; Department of Microbiology, Immunology & Molecular Genetics; Department of Pathology and Laboratory Medicine; Department of Obstetrics and Gynecology; Semel Institute for Neuroscience and Human Behavior; and Department of Molecular, Cell and Developmental Biology. The first author is Pallavi Mukherjee; Fogelman is the senior author.

The studywas published June 7, 2017, in the Journal of Lipid Research.

The study was funded by the United States Public Health Service (2P01 HL-30568) and the Castera, Laubisch, and Milt Grey funds at UCLA.

Alan Fogelman, Mohamad Navab and Srinivasa Reddy are principals in Bruin Pharma, which is working to commercialize apoA-I mimetics, including the 6F peptide studied in this paper; Fogelman is additionally an officer of the company.

See the original post here:

High-fat diet leads to same intestinal inflammation as a virus - UCLA Newsroom

When it comes to attraction, the allure can begin even before she sets eyes on you. There seems to be something about the way youher dinnersmells from afar that makes you a desired target. While you are chatting with friends or overseeing the barbecue, that mosquito will go on the hunt and make you her next blood meal. But what makes you so attractive to tiny ankle biters?

This month a group of British researchers is launching a new investigation into the role of human genetics in this process. They are planning to collect smelly socks from 200 sets of identical and nonidentical twins, place the footwear in a wind tunnel with the bugs and see what happens next. The owners of the socks, the scientists hope, may naturally produce attractive or repellant chemicals that could become the basis for future mosquito control efforts. The researchers expect that studying the popularity of the garments the skeeters hone in onand analyzing both the odor compounds in them and the genetics of their ownerscould help.The study, which will include 100 twins each from the U.K. and from the Gambia, will start recruiting volunteers in the coming weeks.

We know very little about the genetics of what makes us attractive to mosquitoes, says James Logan, a medical entomologist at the London School of Hygiene and Tropical Medicine who is leading the work. Earlier studies suggest visual, olfactory and thermal (body heat) cues all help drive mosquito attraction. We hope this study will give us more insights into the mechanisms that help change our body odors to make us more or less attractive to mosquitos, he says. If we can identify important genes, perhaps we could develop a pill or medication that would allow the body to produce natural repellents to keep mosquitoes away. The findings, he adds, could also help epidemiologists improve their models for how vulnerable certain populations may be to disease-carrying mosquitoes.

Already scientists know there are differences among us that contribute to why some of us get bitten more. Those of us who exhale more carbon dioxide seem to be a natural beacon for mosquitoes, in particular. Researchers have also found a correlation with body size, with taller or larger people tending to attract more bitesperhaps because of their carbon dioxide output or body surface area. There is also some evidence women who are pregnant or at certain phases of the menstrual cycle are more attractive to mosquitoes. Other work has found that people infected with malaria are more attractive to malaria-carrying mosquitoes during their transmissible stage of infection.

But what of our individual genetics? Two years ago Logans team published a small study looking at 18 sets of identical twins and 19 sets of nonidentical twins and their attractiveness to mosquitoes. They found that identical twins were more similar in their desirability to the blood-sucking insects than the nonidentical twins. Because earlier work had found that identical twins smell more alike than nonidentical twins, the British researchers surmised genes may play a role in this mosquito attractiveness.

This new study aims to nail down some more concrete conclusions with its larger sample size and add another population into the mix. (Most research in this area has focused on European Caucasians whereas this study will also include twins from the Gambia). There are other differences that set this apart from their earlier work, too: The 2015 study had tested attractiveness among Aedes mosquitoesthose that carry dengue and Zikawhereas this study will test attractiveness among Anopheles mosquitoes, a species that can transmit malaria. The team suspects the different species will be attracted to the same volatile compounds in human odor but wants to explore this further.

This is novel work and its a good step. It will tell us if there are genetic differences or not but it wont be a complete answer about mosquito attraction because other factors like diet, wind, time of day and mosquito species can all influence that, says Zainulabeuddin Syed, a professor of biological sciences at the University of Notre Dame who studies the smell-influenced behavior and movement of insects and is not involved in the Logan project. Syeds work has found that people of various ethnic groups all seem to produce four major volatile compounds (although at varying levels) and there are some early hints that one compound in particular, called nonanal, may be particularly attractive, at least among certain species of mosquitoes.

Exactly what genes contribute to producing compounds that could possibly interest mosquitoes remains a vast unknown. Scientists that study human odors and genetics have previously suggested scent cues associated with genetics are likely controlled via the major histocompatibility complex (MHC) genes. Those genes appear to play a role in odor production and also in mammals mating choicesbecause humans and mice alike appear to prefer mates that smell less similar to themselves, which scientists have theorized may be a natural control against inbreeding. As a result, Logans team may target those odor-linked genes, but he says they are looking at all the options. In the next couple of years, he says, they hope to have some early answers. For now, and likely for many years to come, we can only slather on some bug repellant and hope for the best.

See more here:

Are You a Magnet for Mosquitoes? - Scientific American - Scientific American

An international team led by researchers from UCLA and Massachusetts General Hospital has identified the first definitive genes associated with Tourette syndrome, giving scientists a long-sought foothold on the biology of the disease.

The report in the June 21 issue of Neuron describes the discovery of rare mutations either deletions or duplications of genetic material in two neurodevelopmental genes, NRXN1 and CNTN6, in people with Tourette syndrome, a disorder characterized by multiple chronic, involuntary motor and vocal tics.

This is a first, key step in understanding the role of these genes in the disease process and ultimately in pointing the field toward possible therapeutic strategies, said Dr. Giovanni Coppola, a professor of psychiatry and neurology at UCLAs Semel Institute for Neuroscience and Human Behavior, and the studys co-senior author. All of us in the field have been trying to understand which genes increase the risk of disease.

Theres no cure for Tourette syndrome, and no one medication that is helpful to all people with Tourette syndrome or suppresses all symptoms.

Previous research has shown Tourette syndrome has a clear genetic component. But genetic risk appears to be very complex, possibly involving different genes in different individuals. Several small studies have identified genes that appear to contribute to Tourette syndrome risk, Coppola said, but none of them met the statistical threshold of significance.

For this study, researchers analyzed data collected by the Tourette Syndrome Association International Consortium for Genetics and the Gilles de la Tourette Syndrome GWAS (genome-wide association studies) Replication Initiative from more than 2,400 people with Tourette syndrome.

Of those people, only two dozen shared rare genetic mutations onNRXN1, which has a role in the development of synapses that transmit signals between neurons, orCNTN6, which is important in the development of neuronal connections involved in movement control.

To test whether these findings were specific to Tourette syndrome and not coincidence, researchers looked for the mutations in 4,100 people without Tourette syndrome. They found that the mutations were vastly predominant in people with Tourette syndrome.

The finding is also relevant to other neuropsychiatric disorders. More than 85 percent of people with Tourette syndrome have attention deficit hyperactivity disorder or obsessive-compulsive disorder, or elevated risk for mood, anxiety, major depressive and autism spectrum disorders. Next, scientists plan to study cells from people with these rare genetic variantsto understand more precisely how they are involved in these diseases.

Tourette syndrome has long been considered a model disorder to study the parts of the brain that function at the intersection of our traditional concepts of neurology and psychiatry, said Dr. Jeremiah Scharf of the psychiatric and neurodevelopmental genetics unit in the Massachusetts General Hospital departments of psychiatry and neurology and co-senior author. Identifying additional genes will give us additional points on the map to let us focus in on exactly which cells in the brain are not functioning correctly at which specific times.

John Miller, president and CEO of the Tourette Association of America, which provided support for the study, called the identification of the two genes an enormous step forward. We congratulate our colleagues on this important discovery and on the real progress it means for individuals with Tourette.

The studys first author is Alden Huang, a doctoral student in the UCLA bioinformatics program. Additional co-senior authors of the study are Dr. Carol Mathews of the University of Florida and Peristera Paschou of Purdue University. Other support for the study came from the National Institute of Neurologic Disorders and Stroke grants U01 NS040024, K02 NS085048, P30 NS062691 (Informatics Center for Neurogenetics and Neurogenomics, ICNN) and NS016648; National Institute of Mental Health grants K23 MH085057 and MH096767; and American Recovery and Reinvestment Act grant NS040024-07S.

Coppola said that he is especially grateful to patients who agreed to be part of the study. As a neurologist in Italy, where he trained, people volunteering for genetic studies would ask him, What is the possible outcome of this? and he would say, Most likely, nothing.

Now, with this studys results, Coppola can point to a success story: Next time your doctor asks you to give your DNA for testing, and tells you chances are dim for the result being relevant, keep in mind sometimes it works. And the more people enrolled, the better it works.

View original post here:

Rare genetic variants found to increase risk for Tourette syndrome - UCLA Newsroom

Researchers at the University of California, Davis, have just reported a small but significant accomplishment: catching the replication of a single DNA molecule on video for the first time. And the footage has revealed some surprising details about this structure on which all life depends.

DNA is composed of two strands bound together in a helical shape, like a twisting ladder. These strands are made of four basesadenine, guanine, cytosine and thymine, abbreviated as A, G, C and T, respectivelystrung together in various patterns and paired in specific ways across the rungs of the ladders. A always pairs with T, and C always pairs with G. Sugar and phosphate molecules help provide architectural support to the ladder-like structure. Human DNA contains about 3 billion bases. Discrete, repeated sequences of bases form the individual genes that encode the instructions for all our working parts. And every time a cell divides, which happens incredibly often, DNA replicates so that each new cell contains a complete copy of our entire genome, or genetic blueprint.

A digital representation of the human genome. Scientists at UC Davis have discovered that DNA replication is not as smooth as they thought. Mario Tama/Getty Images

Tech & Science Emails and Alerts- Get the best of Newsweek Tech & Science delivered to your inbox

The process of DNA replication isa tremendous source of wonder and focus forresearch. The helix must unwind and have each strand copied smoothly and quickly. An enzyme called helicase triggers the unwinding and another called primase initiates the replication process. Athird, called polymerase, travels the length of a strand, adding the requisite base pairs along the way, leaving behind a new strand. Imagine splitting a ladder down the middle and assembling matching halves so that where there was once one ladder now there are two. That is DNA replication, only in place of saws, nails, wood and glue, there are enzymes and many microscopic and complex processes. Mysteries aboundwhen it comes to thishereditary material.

To better probe those mysteries, geneticist and microbiologist Stephen Kowalcyzkowski and colleagues watched DNA from bacteria replicate. They wanted to see exactly how fast the enzymes worked on each strand.

This first-ever view, shown in the video above, revealed a surprise: replication stopped unpredictably and moved at a varying pace. "The speed can vary about 10-fold," Kowalczykowski said in a statement. The two strands also replicated at different speeds.Sometimes the copying stalled on one strand while proceeding on the other. "We've shown that there is no coordination between the strands," said Kowalczykowski. "They are completely autonomous." The process, the researchers report in their study, published in Cell, is much more random than previously suspected.

The three enzymeshelicase, primase and polymeraseare also not alwys in sync. Even if polymerase stops its replication work, helicase can keep unzipping the helix. That lack of coordination leaves the half-helix of DNA exposed and vulnerable to damage. Such exposure is known to trigger repair mechanisms within the cell. Errors in replicating DNA, while often corrected, can also result ingenetic abnormalities that in turn lead to diseases.

This new look at DNA transforms the scientific understanding about replication. "It's a real paradigm shift," saidKowalcyzkowski, "and undermines a great deal of what's in the textbooks."

See the article here:

DNA Replication Filmed for First Time Shows How Awkward and Random Genetics Is - Newsweek

High schools all teach the same narrative in sex-ed: Chromosomes determine genitals, which determine sex, which determines gender. Women are XX, and men are XY. One has a penis, the other a vagina. Its science. Right?

But what about people born with congenital adrenal hyperplasia (CAH), a disorder of sexual development (DSD) in which a person with two X chromosomes is born with a functioning penis? What if you have androgen insensitivity syndrome, where despite having a Y chromosome, your cells unresponsiveness to testosterone gives you a female body? What if you have Kenefelter syndrome, which is when youre born with two X chromosomes and one Y chromosome? Or what if youre among the 1 in 4,500 people born with ambiguous genitalia, many of whom are surgically altered while still infants to fit into the binary two-sex model?

The science is clear: Sex is not binary after all. And schools can bring about a true cultural shift if they begin teaching that fact to our youngest generations.

Sex and gender are much more complex and nuanced than people have long believed. Defining sex as a binary treats it like a light switch: on or off. But its actually more similar to a dimmer switch, with many people sitting somewhere in between male and female genetically, physiologically, and/or mentally. To reflect this, scientists now describe sex as a spectrum.

Scientists now describe sex as a spectrum.The more we have learned about human genetics, the more complicated it has revealed itself to be. Because of this, the idea of binary gender has become less and less tenable. As Claire Ainsworth summarizes in an article for Nature, recent discoveries have pointed to a complex process of sex determination, in which the identity of the gonad emerges from a contest between two opposing networks of gene activity. Changes in the activity can tip the balance towards or away from the sex seemingly spelled out by the chromosomes.

Despite the evidence, people hold on to the idea that sex is binary because its the easiest explanation to believe. It tracks with the messages we see in advertisements, movies, books, musicbasically everywhere. People like familiar things, and the binary is familiar (especially if youre a cisgender person who has never had to deal with sexual-identity issues). But science doesnt always care for the simple route.

Many people still defend the binary while claiming to be scientific. For instance, the famous evolutionary biologist and atheist Richard Dawkins has continued to describe trans issues in terms of a binary defined by chromosomes, despite research suggesting otherwise.

The lions share of such commentsagainst trans people, against nonbinary people, against all thats different and unknowncome from a place of ignorance. Large swaths of the public simply do not know about the state of the research in this area because nobody has ever told them about it.

Thats where schools can help.

Biology textbooks are not only just ignoring important content: Theyre actively misinforming students.The obvious places to cover these topics would be in biology and sex-ed classes. In recent years, sociologists and science educators have documented the refusal to integrate non-binary sex education into schools. For instance, in a 2011 study of biology textbooks in Ontario, University of Torontos researchers Jesse Bazzul and Heather Sykes found that any mention or discussion of sexuality or identity beyond the set heterosexual norm or the male/female sex binary is conspicuously absent. As a 2004 article in the Journal of Research in Science Teaching notes, publishers of science textbooks are unwilling to make decisions to include knowledge that is embroiled in political controversies and, through their silence, propagate the heterosexual norm. Unsurprisingly, attempts to fix these problems often face backlash; as a result, recent surveys have found that LGBT issues almost never come up in classroom discussions.

Biology textbooks are not only just ignoring important content: Theyre actively misinforming students. This misinformation is partially responsible for the bizarre state of the mainstream discourse on human sexuality, where mobs of angry people claim that anyone deviating from the binary of male and female is unnatural (even when 1 in 100 people are born with some form of DSD).

The problem here is worse than simple nave ignorance: People are defending an outdated and discredited model of human sex, and then using that scientifically unsound model to deny rights to trans and non-binary people, justify their oppression, and exclude them from society. The bathroom bills currently being proposed in several US states, which explicitly define sex in binary terms, are instances of poor education metastasizing into harmful laws.

Changing the way students learn about the biology of sex wont fix the whole problem. But its a step, and one of several ways schools can become more accepting of trans, intersex, and non-binary students. Teaching non-binary gender wouldnt mean overhauling entire curriculums, either: When teaching students what a chromosome is or how embryos grow, teachers could simply also talk about DSDs and other related topics alongside the lesson plan.

Schools need to update their biology curriculums to reflect the current state of the research, and they need to explicitly address the needs of their queer students through non-discriminatory sex-ed classes. To do anything less is not only unscientificit is also unjust.

You can follow Jeremy on Twitter. Learn how to write for Quartz Ideas. We welcome your comments at ideas@qz.com.

View post:

The myth that gender is binary is perpetuated by a flawed education system - Quartz

Dr. Huda Zoghbi, a neurologist whose work has revealed the molecular basis of neurological disorders, is the recipient of the 2017 Switzer Prize awarded by the David Geffen School of Medicine at UCLA for excellence in biological and biomedical sciences research.

Zoghbis lab at the Baylor College of Medicine identified a gene mutation that causes Rett syndrome, a severe genetic disorder that mostly affects girls. After a short period of apparently normal development, the disorder causes them to lose language and motor skills, typically by 18 months of age. The discovery paved the way for a genetic test to diagnose the disorder. The same gene mutation can also cause autism, juvenile-onset schizophrenia and other neuropsychiatric disorders.

Zoghbi also discovered the molecular mechanism of spinocerebellar ataxia 1, a neurodegenerative disorder in which peoples balance and coordination progressively worsens. Zoghbi and collaborator Harry Orr identified the gene mutation responsible for the disorder.

These and other discoveries by Zoghbi have opened up new areas of inquiry with the potential to advance diagnoses and treatments for Alzheimers disease, Parkinsons disease and other neurological diseases.

Dr. Zoghbis extraordinary work represents a powerful example of the direct impact that biological and biomedical research have on the lives of patients, said Dr. Kelsey Martin, dean of the Geffen School of Medicine.

Zoghbi is scheduled to deliver the Switzer Prize lecture at UCLA on Feb. 16, 2018. She will receive a $25,000 honorarium and a medallion.

Im honored to accept UCLAs Switzer Prize on behalf of the patients and the families to whom I am committed, and also on behalf of my many research collaborators and trainees, she said.

Zoghbi is a Howard Hughes Medical Institute investigator, a professor at the Baylor College of Medicine and the founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Childrens Hospital in Houston. She has faculty appointments in the departments of pediatrics, molecular and human genetics, neurology and neuroscience.

A native of Beirut, Lebanon, Zoghbi fled the civil war in her home country in the mid-1970s while a medical student at the American University of Beirut. She earned a medical degree at Meharry Medical College in Nashville and went on to become chief resident in pediatrics at Baylor College of Medicine and Texas Childrens.

After years of treating patients, Zoghbi became fascinated with the origins of disease and committed to a three-year fellowship in molecular genetics to acquire research training.

She is a member of the National Academy of Sciences, the National Academy of Medicine and the American Association for the Advancement of Science.

Zoghbi is the recipient of a number of other prestigious awards, including the Breakthrough Prize in Life Sciences, the Shaw Prize in Life Science and Medicine and the Canada Gairdner International Award.

Read the original:

David Geffen School of Medicine at UCLA names winner of Switzer Prize for research excellence - UCLA Newsroom