Category Archives: Human Genetics

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Newswise NEW YORK (September 23, 2014) David Goldstein, PhD, will join Columbia University as professor of genetics and development in the College of Physicians and Surgeons and director of a new Institute for Genomic Medicine in partnership with NewYork-Presbyterian, effective January 1, 2015. Dr. Goldstein will be responsible for building a program that comprehensively integrates genetics and genomics into research, patient care, and education at Columbia University Medical Center (CUMC) and NewYork-Presbyterian and that develops programs to prepare students for careers in the expanding field of genomic and personalized medicine.

Dr. Goldsteins role includes serving as an adviser to Columbia University President Lee C. Bollinger and Executive Vice President for Health and Biomedical Sciences Lee Goldman, MD, on the genetic and genomic components of Columbias university-wide initiative in precision or personalized medicine, which was announced in February.

Having a pioneering researcher like David Goldstein join us marks a crucial next step in our initiative to be at the forefront of genomics, data science, and the core science and engineering disciplines essential to this emerging field of truly humanistic medicine, said President Bollinger. The potential for progress in this broad subject encompasses not only new cures for disease, but also virtually every part of the University, including areas that explore fundamental issues of human self-understanding, as well as the legal, policy, and economic implications of revolutionary changes in knowledge and practice.

Dr. Goldsteins research has focused on identifying the relationship between human genetic variations and diseases such as epilepsy, hepatitis C, and schizophrenia, as well as the response of these diseases to pharmacologic treatments. In addition to his leadership of the Institute for Genomic Medicine at CUMC, he will have a faculty appointment at the New York Genome Center, as well as one in neurology at Columbias College of Physicians and Surgeons.

David Goldstein has shown himself to be both an innovative scientist and a visionary leader in genetic, genomic, and personalized medicine, said Dr. Goldman, who is also the Harold and Margaret Hatch Professor of the University and dean of the Faculties of Health Sciences and Medicine at CUMC. Working with our partners across Columbia and at New York-Presbyterian, Dr. Goldstein will help us establish a fully integrated genetics and genomics research environment to maximize the scientific possibilities and apply them to the frontiers of patient care and public health.

Personalized medicine and targeted therapies represent the future of patient-centered health care, said Steven J. Corwin, MD, CEO, NewYork-Presbyterian. Dr. Goldsteins expertise in genetics will help us not only to tailor individualized treatments for patients, but also to identify diseases before they develop. His work will have a transformative impact on patient care at NewYork-Presbyterian.

Dr. Goldstein comes to Columbia from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.

The vision of Columbia University and NYP to create a truly integrated environment for research, clinical application, and student instruction is exactly the right vision, said Dr. Goldstein. Human genomics is creating breathtaking new opportunities to better understand the biology of disease and to provide more effective and more accurately targeted therapies. Capitalizing on these opportunities and ensuring that clinical applications adhere to the highest possible scientific standards requires close collaborations among researchers, the clinical community, and patients and their families. I am thrilled to be joining Columbia University at this pivotal time in my field, and I am honored to participate in Columbias university-wide initiative in precision medicine.

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Dr. David Goldstein to Direct Columbia's Institute for Genomic Medicine as Key Part of University-Wide Initiative

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Newswise The Genetics Society of America today announced new appointments to the editorial board of its flagship journal GENETICS. The recent additions complement the renewed focus of the peer-reviewed, peer-edited journal in the areas of genomics, human genetics, and methods, among other fields.

The newest members of the board bring cutting-edge expertise and reflect the changing, interdisciplinary landscape of our field, while exemplifying GENETICS reputation for rigorous scholarship, said Mark Johnston, Editor-in-Chief of GENETICS and Professor and Chair, Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Theyre already adding to the momentum of the journals transformation over recent years.

Two former Associate Editors have also taken on Senior Editor roles to lead the journals expanded coverage of methods and technology development:

New methods and technologies often drive important discoveries in genetics, and the journal welcomes papers that describe these new approaches, said Fields.

The new Statistical Genetics and Genomics section will handle articles describing statistical methods, which were formerly published in the Methods, Technology, and Resources section.

Statistics is an integral part of our field, so its only fitting that it has a dedicated section and its own team of Associate Editors, said Churchill.

The new Senior Editors are joined by several Associate Editor appointments this year:

New Editor Details: Hugo J. Bellen Baylor College of Medicine & Howard Hughes Medical Institute GENETICS Associate Editor, Developmental and Behavioral Genetics http://flypush.imgen.bcm.tmc.edu/lab/index.html

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New Editors Join GENETICS, the Flagship Journal of the Genetics Society of America

Heidi Richmond walks her dog, Grizz, who is being treated with the canine melanoma vaccine. The medication is a form of immunotherapy, teaching the dog's immune system to fight the cancer.

Ray Boone, Deseret News

MURRAY The lifelong bonding between humans and dogs is eloquent. Dogs are loved as members of families. And just like family members, when they become ill, owners want them to have the best medical care.

It appears dogs and humans are much more alike genetically than was originally believed, and what's saving their lives could save human lives as well.

In fact, researchers are "going to the dogs," so to speak, to form a unique partnership.

At Cottonwood Animal Hospital in Murray, Heidi Richmond's dog "Grizz" is being treated with a vaccine that's a form of immunotherapy. The treatment is approved only for oral melanomas in dogs, but designed from human genetics. Veterinarian Nathan Cox said this kind of match-up intrigues researchers.

"The genetics of cancer in dogs is very similar to what it is in people," Cox said, "and that allows us a baseline to be able to study cancer in an alternate species."

With traditional therapy, a dog with melanoma undergoes surgery or radiation to debulk the tumor, he said. Dogs' average lifespan after treatment, without the vaccine, is usually less than six months.

"It's (the vaccine) really changed the game," Cox said. "It's been more effective than chemotherapy has been for oral melanoma in dogs."

For Grizz and other dogs with cancer, this human genetic product is different enough to trigger an immune response, but similar enough to the dogs' own melanoma to cross react, training the immune system to attack the cancer cells.

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Cancer treatment for dogs could one day save humans

WEDNESDAY, Sept. 17, 2014 (HealthDay News) -- Present-day Europeans are the descendants of at least three groups of ancient humans, according to a new study.

Previous research suggested that Europeans descended from indigenous hunter-gatherers and early European farmers. But, a new genetic analysis involving ancient bone samples revealed they are also the descendants of Ancient North Eurasians. Nearly all present-day Europeans have genetic material from this third ancestral group, researchers from Harvard Medical School said.

In conducting its investigation into Europeans' heritage, the team of researchers collected and sequenced the DNA of more than 2,300 people currently living around the world. They also examined DNA from nine ancient humans from Germany, Luxembourg and Sweden.

The ancient samples were taken from the bones of eight hunter-gatherers who lived about 8,000 years ago, and one farmer who lived about 7,000 years ago.

"Ancient DNA has emerged as a powerful technology that makes it possible to go back in time to understand how people in the past relate to people today," study co-senior author, David Reich, professor of genetics at Harvard Medical School, said in a university news release.

About 7,500 years ago in Europe, agriculture from the Near East brought early farmers into contact with hunter-gatherers who had been living in Europe for tens of thousands of years. Nearly all Europeans are the result of the mixing of these two ancient populations.

"There was a sharp genetic transition between the hunter-gatherers and the farmers, reflecting a major movement of new people into Europe from the Near East," noted Reich.

The study's authors found, however, Ancient North Eurasians also contributed DNA to present-day Europeans. Ancient North Eurasians also likely contributed DNA to people who crossed the Bering Strait into the Americas more than 15,000 years ago, according to the researchers.

"Nearly all Europeans have ancestry from all three ancestral groups," explained the study's first author, Iosif Lazaridis, a research fellow in genetics in Reich's lab.

"Differences between them are due to the relative proportions of ancestry. Northern Europeans have more hunter-gatherer ancestry -- up to about 50 percent in Lithuanians -- and Southern Europeans have more farmer ancestry," Lazaridis said in the news release.

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Europeans Are Descendants of at Least 3 Ancient Human Groups: Study

PUBLIC RELEASE DATE:

18-Sep-2014

Contact: Raeka Aiyar press@genetics-gsa.org 202-412-1120 Genetics Society of America @GeneticsGSA

Life is rarely simple. From crop yields to disease risks, the biological characteristics people care most about are usually those considered "complex traits." Just as for heightthe textbook example of a complex traitattributes like risk for a particular human disease are shaped by multiple genetic and environmental influences, making it challenging to find the genes involved. To track down such genes, geneticists typically mate two individuals that differ in key waysfor example, a large mouse and a small mouseand then study their descendents, looking for genes that tend to be inherited with the trait value of interest. But this method only implicates a broad genomic region, and the identities of the crucial gene/s often remain a mystery.

Now, geneticists are embracing a powerful approach that pinpoints more precise areas of the genome by founding the breeding population with multiple, genetically diverse parents. To encourage innovations in this rapidly developing field, the Genetics Society of America journals GENETICS and G3: Genes|Genomes|Genetics today published the first articles in an ongoing special collection on mapping complex trait genes in multiparental populations.

The 18 articles describe methods and applications in a wide range of organisms, including mice, fruit flies, and maize. Among the advances reported are the creation of a multiparental population of wheat, methods for use with the Diversity Outbred and Collaborative Cross mouse populations, and the identification of nicotine resistance genes in fruit flies. The power of the approach for disease genetics is highlighted in an article describing how a multiparental rat population was used to find a human gene variant that affects insulin levels.

"These collections of multiparental strains are extremely powerful and greatly accelerate discovery. For example, in one of the articles, researchers report using a multiparental population to rapidly identify fruit fly genome regions associated with the toxicity of chemotherapy drugs. The authors could then examine these regions to find several candidate causative genes," said Dirk-Jan de Koning, Professor at the Swedish University of Agricultural Sciences, Deputy Editor-in-Chief, Complex Traits, at G3, and an editor of the new collection. "Using standard two-parent crosses, they would have been stuck with unmanageably large regions each containing hundreds or even thousands of candidate genes."

Because the field is so new, geneticists are still developing the best methods for creating and analyzing multiparental populations. "This collection will move the field forward by stimulating discussion between different disciplines and research communities," said Lauren McIntyre, Professor at the University of Florida, and an editor of the collection. "To help foster this ongoing exchange, the collection will continue to publish new articles, and all associated data will be freely available."

In an editorial, McIntyre and de Koning describe how the idea for the multiparental populations collection was born and how scientific society journals like GENETICS and G3 can advance new research fields.

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Want to link genes to complex traits? Start with more diversity

PUBLIC RELEASE DATE:

18-Sep-2014

Contact: Wolfgang Enard enard@bio.lmu.de 49-089-218-074-339 Ludwig-Maximilians-Universitt Mnchen

The ability to acquire and creatively manipulate spoken language is unique to humans. "The genetic changes that occurred over the past 6 million years of human evolution to make this possible are largely unknown, but Foxp2 is the best candidate gene we now have," says Wolfgang Enard, Professor of Anthropology and Human Biology at LMU. In his efforts to understand the molecular biological basis of language Enard has now taken an important step forward. The results of his latest study, undertaken in collaboration with scientists at several universities, including the Massachusetts Institute of Technology in Cambridge and the Max Planck Institute for Evolutionary Anthropology, have recently appeared in the journal Proceedings of the National Academy of Sciences (PNAS).

The human homolog of Foxp2 codes for a protein a so-called transcription factor that regulates the activity of hundreds of genes expressed in various mammalian cell types. Individuals who carry only one functional copy of the gene instead of the usual two experience specific difficulties in learning to speak and in language comprehension. "Genetic mutations that occurred during the 6 million years since our lineage diverged from that of chimpanzees have resulted in localized alterations in two regions of the Foxp2 protein. That is quite striking when one considers that the normal mouse version differs from that found in chimps by only a single mutation, although these two species are separated by over 100 million years of evolution. The question is how the human variant of this transcription factor contributes to the process of language acquisition," says Enard.

Enard and his coworkers had previously shown that the alterations in the human gene for Foxp2 specifically affect certain regions of the brain. When the two human-specific substitutions were introduced into the mouse version of the gene, he and his team observed anatomical changes exclusively in two neuronal circuits in the basal ganglia of the mouse cortex, which are involved in the control of motor function. "These circuits play a crucial role in the acquisition of habitual behaviors and other cognitive and motor capabilities," Enard explains.

Conscious and unconscious learning processes

In their latest work with the same mouse model, Enard and his collaborators found that, under certain conditions, the human version of Foxp2 actually enhances learning. "We have shown for the first time that the evolved alterations in the human gene have an effect on learning ability. The human version modifies the balance between declarative and motor neuron circuits in the brain. As a result, the mice take less time to associate a given stimulus with the appropriate response, and hence learn more rapidly," says Enard.

Learning to speak clearly requires interactions between conscious "declarative" knowledge and the unconscious effects of repetitive stimulation of particular patterns of neural activity. "As we learn, the underlying neuronal processes become automated, they are converted into routine procedures, enabling us to learn faster," Enard explains. Using various tests, the researchers demonstrated that the human-specific mutations enhance cooperative interactions between the two affected circuits in the basal ganglia of the mouse brain. "The human variant of the Foxp2 gene modulates the associative and sensorimotor nerve connections formed, as well as levels of the neurotransmitter dopamine in the basal ganglia, during the learning process. The increased ability to switch between conscious and unconscious forms of learning may play a role in the acquisition of language," Enard concludes.

Foxp2 is the only gene so far that has been shown to be directly associated with the evolution of language, and studies of Foxp2 function promise to throw new light on the evolution of the human brain. The mutation that first revealed the link with language was discovered in a kindred, many of whose members displayed severe speech difficulties, primarily as a consequence of defective control of the muscles of the larynx, the lips and the face.

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Language evolution: Quicker on the uptake

Dogs, humans attack cancer together

By Ed Yeates

September 18th, 2014 @ 7:02pm

SALT LAKE CITY It appears dogs and humans are much more alike genetically than we believed, and what's saving their lives could save our lives as well. In fact, researchers are "going to the dogs," so to speak, to form a unique partnership.

And why shouldn't they?

The lifelong bonding between humans and dogs is eloquent. We love them as members of our families. Their loyalty to us is boundless. And now, that bond goes much deeper.

At Cottonwood Animal Hospital, Heidi Richmond's dog Grizz is being treated with a vaccine that's a form of immunotherapy. The treatment is approved only for oral melanomas in dogs, but designed from human genetics. Veterinarian Nathan Cox says this kind of match-up intrigues researchers.

"The genetics of cancer in dogs is very similar to what it is in people, " he said. "That allows us a baseline to be able to study cancer in an alternate species."

For Grizz and other dogs with cancer this human genetic product is different enough to trigger an immune response but similar enough to the dogs own melanoma to cross react training the immune system to attack the cancer cells.

"We have dogs living out past three to four years with the vaccine, so it's more than doubled survival times and in some dogs," Cox said. "It's actually resulted in a cure for their disease."

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Dogs, humans attack cancer together

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Newswise The Genetics Society of America today announced new additions to the editorial board of its peer-reviewed, peer-edited journal G3: Genes|Genomes|Genetics. Since the journals launch in June 2011, its editorial board of academic experts has been instrumental in shaping G3 into an important forum for the publication of useful genetics findings and resources.

As the breadth of research published in the journal continues to grow, Editor-in-Chief Brenda Andrews, PhD, has appointed two new Deputy Editors-in-Chief, who will contribute to the oversight of key sections:

Also, Stephen Wright, PhD, University of Toronto, has been appointed as a new Senior Editor for Population and Evolutionary Genetics and Genomics and will spearhead the journals efforts to strengthen coverage of in this area.

The new Deputy Editors-in-Chief and Senior Editor are joined by several new Associate Editor appointments to the editorial board this year:

Genetics is a fast-paced field. The expanded editorial board will help us keep up with the growing volume and diversity of research being submitted to G3, said Brenda Andrews, G3: Genes|Genomes|Genetics Editor-in-Chief and Professor and Chair of the Banting & Best Department of Medical Research, University of Toronto.

G3 was created by the Genetics Society of America to meet the critical and growing need of the genetics community for rapid review and publication. The journal offers an opportunity to publish the puzzling finding, useful dataset, or highly focused research that may not have been submitted for publication due to a lack of perceived impact.

New Editor Details:

Eduard Akhunov Kansas State University G3 Associate Editor

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New Editors Join G3: Genes|Genomes|Genetics, an Open Access Journal of the Genetics Society of America

Human Genetics DNA and RNA.mp4
Table of Contents: 00:00 - Methylation and acetylation 01:30 - Who #39;s in control? 01:32 - What is DNA and RNA? 02:45 - How do DNA and RNA differ? 03:56 - How ...

By: Marc Reynolds

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Human Genetics DNA and RNA.mp4 - Video

PUBLIC RELEASE DATE:

16-Sep-2014

Contact: PLOS Biology biologypress@plos.org PLOS

We respond to infections in two fundamental ways. One, which has been the subject of intensive research over the years, is "resistance," where the body attacks the invading pathogen and reduces its numbers. Another, which is much less well understood, is "tolerance," where the body tries to minimise the damage done by the pathogen. Now an elegant study using data from a large Swiss cohort of HIV-infected individuals gives us a tantalising glimpse into why some people cope with HIV better than others.

The authors find that tolerance varies substantially between individuals, that it's determined at least partly by the genes that one inherits, and that the genes that influence tolerance of HIV are distinct from those that influence resistance. The team, led by Roland Regoes at ETH Zurich, publishes their work on 16th September in the open access journal PLOS Biology.

HIV offers a unique opportunity to tease apart the way that the human body handles disease. After the initial infection event, the virus takes up residence in a population of white blood cells called CD4+ T cells. The number of viruses a few months after infection, called the "set-point viral load," can be used to measure resistance how well a person is fighting the virus. However, HIV infection also offers a ready measure of tolerance the slower you lose your CD4+ T cells, the better you are tolerating the infection. This situation of cohabitation between human and virus can last many years, but when the number of CD4+ T cells falls below a critical level (fewer than 200 cells per microliter of blood) then the immune system is compromised and the HIV carrier becomes an AIDS patient, with potentially fatal consequences, if not treated.

The key to the study is the existence of the Swiss HIV Cohort Study, started in 1988, this provided the authors with more than 3000 HIV-infected people in whom they could measure both set-point viral load and the rate of CD4+ T cell loss. These two values could be used to simultaneously assess both resistance and tolerance, and combining these with a wealth of demographic and genetic data on the same individuals allowed the authors to start to explore the workings of tolerance.

The first question they asked was whether age and sex matter. On average, they found, men and women tolerated HIV equally well, but older people had a lower tolerance, with the disease progressing almost twice as fast in a 60-year old as in a 20-year old.

The authors then looked at hereditary factors that influence tolerance of HIV. They looked at genetic differences that are known to be associated with resistance to HIV and asked whether these were also associated with tolerance. The answer was an overwhelming "no," confirming the expectation that resistance and tolerance are biologically distinct phenomena.

However, one gene that is involved in resistance also seemed to be involved in tolerance. The HLA-B gene, which encodes a protein involved in recognition of pathogens by the immune system, varies considerably between individuals. Although some of these variants are known to influence a person's resistance to HIV, the authors found that other variants of the same gene correlated with tolerance. So this key player in the immune system seems to influence both tolerance and resistance, but in distinct ways.

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The genetics of coping with HIV