Highlights Archive

Showing all entries (from most to least recent)

IGNITE and Beyond: The Future of Genomic Medicine Implementation

Patient and doctor discussing genetic results and healthcare Watch live on Tuesday, August 30, 2016, when the National Human Genome Research Institute (NHGRI) hosts the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting. The meeting will focus on research opportunities in the integration of genomic medicine into clinical care, and will evaluate the contributions of the Implementing Genomics in Practice (IGNITE) Network to genomic medicine. Live webcast starts at 8:00 a.m. Eastern.

Posted: August 26, 2016  

NIH researchers discover otulipenia, a new inflammatory disease

Otulipenia National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Read more in the Aug. 22, early edition of the Proceedings of the National Academy of Sciences.

Posted: August 22, 2016  

Survey shows broad support for national precision medicine study

Precision Medicine Cohort Prgram A recent survey designed to measure public attitudes about the Precision Medicine Initiative (PMI) Cohort Program has shown that most respondents were willing to participate in this nationwide research. The PMI Cohort Program is a longitudinal research effort that aims to engage 1 million or more U.S. participants to help improve prevention and treatment of disease. The results were published online August 17 in PLOS ONE. NHGRI's David Kaufman, Ph.D., led the research.

Posted: August 18, 2016  

NHGRI Senior Level Position Available

Seeking: Director, Division of Genome Sciences

DNA Double Helix The National Human Genome Research Institute a component of the National Institutes of Health (NIH) and the Department of Health and Human Services (DHHS), is seeking exceptional candidates for the position of Director, Division of Genome Sciences. The ideal candidate will have the knowledge and expertise to lead NHGRI's funding for extramural research and training that is aimed at advancing the understanding of the structure and function of genomes and their implications for biology and disease etiology. Read more

Posted: August 17, 2016  

Sardinian dog genome reveals a shared ancestral homeland with humans

A Sardinian/Fonni's dog stands on a rocky cliff in Sardinia, howling. The genetic origins of a fierce Sardinian dog (also called Fonni's dogs for the city of the same name) mirror recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary, according to scientists at the National Human Genome Research Institute. Sequencing the whole genome of Fonni's dogs revealed clues about the migration of humans to the area. Findings were reported August 12 in the journal Genetics.

Posted: August 15, 2016  

The Genomics Landscape

From Bedside Back to Bench: Bringing Genomic Medicine Full Circle

Eric Green August is a quiet month in D.C., but once the fall begins, our heads will spin with important events: the last Fiscal Year 2016 meeting of the National Advisory Council for Human Genome Research, developments from the Precision Medicine Initiative and all the latest news in genomics! This issue of The Genomics Landscape features NHGRI's ninth Genomic Medicine Meeting, highlights a meeting with Israeli research leaders and provides an opportunity to comment on new guiding principles for DNA sequencing-based clinical tests. Read more

Posted: August 09, 2016  

New tools to determine copy number variations raise questions about reproducibility

Leslie Biesecker, M.D. Chief & Senior Investigator, Medical Genomics and Metabolic Genetics Branch, NHGRI Copy number variations (CNVs) - large segments of DNA that have been duplicated or deleted - play a role in disease susceptibility and drug response. New tools exist that examine the prevalence of CNVs in the protein-coding part of the genome, but their accuracy remains unknown. A new study from NHGRI investigators looks at the reproducibility of the results from the most current tools and finds that further improvements are necessary. The research was published in the August 8 edition of Genome Medicine.

Posted: August 09, 2016  

How much does it cost to sequence a genome?

Cost Per Genome A question often posed to NHGRI staff is "How much does it cost to sequence a human genome?" This is a timely question, as human genome sequencing is expanding from research tool to major clinical diagnostic test. To help everyone understand the cost, NHGRI recently developed a summary and infographic called The Cost of Sequencing a Human Genome to clarify how the cost of generating a human genome sequence is calculated.
Read the summary | Read the infographic

Posted: August 04, 2016  

Gut bacteria co-evolved with animal hosts, offers human evolution clues

Gut Bacteria Based on the DNA sequence of a moderately conserved gene in all bacteria, researchers have found that bacterial strains diverged and began to evolve separately in the guts of humans and chimpanzees 5 million years ago, and in humans and gorillas 15 million years ago. These dates are similar to when humans and apes evolved into a new species. It may now be possible to determine if this mutually beneficial relationship between gut bacteria and their animal hosts contributed to the formation of a new species. A perspective on the research from NHGRI Senior Investigator Julie Segre, Ph.D., appeared in the July 22 issue of Science.
Read the perspective | Read the study

Posted: July 22, 2016  

Progeria cure remains elusive but new therapeutic options are emerging

Francis Collins speaking at the Research Foundation workshop. Development of a cure for Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that causes rapid aging in children, remains elusive, NIH Director Francis Collins, M.D., Ph.D., wrote in a July 12 editorial in Circulation. But therapeutic options are emerging, and there is momentum in the basic and clinical research communities. His comments appeared in the same issue as findings of a new clinical trial that combines three drugs for the treatment of HGPS. Read Dr. Collins' editorial
Read about the clinical trial

Posted: July 12, 2016  

Researchers advance treatment possibilities for Gaucher, Parkinson's

small molecule NCGC607 National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Parkinson's disease affects more than 1 million people in North America and 7-10 million people worldwide. The findings were published July 12 in The Journal of Neuroscience. Read more

Posted: July 12, 2016  

Media Availability

Genetics of type 2 diabetes revealed in unprecedented detail

Diabetes Glucometer A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published July 11 in the journal Nature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments. Read more

Posted: July 11, 2016  

NIH awards $55 million to build million-person precision medicine study

Precision Medicine Cohort Prgram The National Institutes of Health has announced $55 million in awards in 2016 to help launch the Cohort Program of President Obama's Precision Medicine Initiative (PMI). The Cohort Program is a long-term research effort to improve disease prevention and treatment in at least 1 million U.S. participants based on individual differences in lifestyle, environment and genetics.
Read the NIH Release | Read more about PMI

Posted: July 07, 2016  

FDA requests comments on draft guidances for Precision Medicine Initiative

Sequence data and a DNA double helix The U.S. Food and Drug Administration (FDA) has announced two draft guidances to support President Obama's Precision Medicine Initiative. The guidances will help provide oversight for tests based on next generation sequencing, a technology that examines a person's DNA to detect medically important differences in genomic make-up that could increase the risk for disease.
Read the FDA release
How to comment by October 6, 2016

Posted: July 07, 2016  

New training grants prime doctors to tackle genomic medicine

Health professional with a tablet device showing genomic data The practice of medicine is expensive and doesn't fit in a one-hour time frame. Tests can only eliminate one diagnosis at a time. Questioning and family history can help a doctor arrive at the correct diagnosis, but even with the information gathered upfront, there are a huge number of tests to consider, and many tests may still be needed. Training doctors to use genomic sequencing is a powerful solution to the challenges facing today's medical practice. Read more

Posted: July 06, 2016  

The Genomics Landscape

The Power of Model Organisms for Studying Rare Diseases

Eric Green In this issue of The Genomics Landscape, we feature the use of model organisms to explore the function of genes implicated in human disease. This month's issue also highlights a recently completed webinar series to help professionals in the health insurance industry understand genetic testing, new funding for training in genomic medicine research, and NHGRI's Genome Statute and Legislation Database. Read more

Posted: July 05, 2016  

One little fish hooks genome researchers with its versatility

At the largest zebrafish facility in the country, Kevin Bishop, NHGRI Zebrafish Core staff member, holds up a tank of zebrafish to observe their behavior and physiology. Modern molecular biology and the genome of a tiny silver and black striped fish - the zebrafish - are making waves in genomics research. This tiny fish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease. Here, at the National Human Genome Research Institute (NHGRI), researchers are working to advance human health by coupling the potential of this little fish with an institute-funded resource known as The Zebrafish Core.
Read more

Posted: June 30, 2016  

Video now available

The Genomic Landscape of Breast Cancer in Women of African Ancestry

Olufunmilayo Olopade On June 7, Olufunmilayo I. Olopade, M.D., F.A.C.P., presented The Genomic Landscape of Breast Cancer in Women of African Ancestry, the final lecture in the 2016 Genomics and Health Disparities Lecture Series. Dr. Olufunmilayo is director of the Center for Clinical Cancer Genetics at the University of Chicago School of Medicine. She is an expert in cancer risk assessment and treatment for aggressive forms of breast cancer. Watch video | Read about the series

Posted: June 29, 2016  

Genome Seminar Series

Do Gametes Woo? Evidence for Non-Random Union of Gametes at Fertilization

Joseph Nadeau On June 30, Joseph Nadeau, Ph.D., principal scientist at the Pacific Northwest Diabetes Research Institute, will present the final lecture for the 2015-2016 NHGRI Genome Seminar Series, Do Gametes Woo? Evidence for Non-Random Union of Gametes at Fertilization. Dr. Nadeau was a founding member of the International Mammalian Genome Society and a founding editor of Mammalian Genome, and Systems Biology and Medicine. He received the prestigious NIH Director's Pioneer Award in 2010. He will speak at Lipsett Amphitheater at 2:00 p.m.
Read more about Dr. Nadeau

Posted: June 22, 2016  

GHB chief joins Roundtable on Genomics and Precision Health

Bob Wildin Robert Wildin, M.D., chief of NHGRI's Genomics and Healthcare Branch (GHB), is helping to jumpstart activity in the public health application of genomic medicine as a member of the National Academies' Roundtable on Genomics and Precision Health. Public health initiatives like this have great potential to reach the underserved, he said. The roundtable will issue a new toolkit in 2017. Read more

Posted: June 16, 2016  

New NIH studies seek adults and families affected by sickle cell disease/trait

Red blood cells (left) and sickle cells blocking blood flow (right) People with sickle cell disease (SCD) can experience excruciating pain, kidney problems, a higher risk of stroke and, in rare cases, chronic leg ulcers. Little is known about why the severity of these symptoms varies throughout a lifetime or why these symptoms differ from person to person. NHGRI researchers are seeking help from people affected by SCD to find the factors - environmental, social and genetic - that impact the severity of the symptoms. Read more

Posted: June 09, 2016  

Video now available

Investigational Device Exemptions (IDE) and Genomics Workshop

Double helix On Friday, June 10, 2016, the National Human Genome Research Institute (NHGRI) hosted the Investigational Device Exemptions (IDE) and Genomics Workshop. The workshop gathered investigators, institutional review boards (IRB), the FDA and NHGRI to share how to determine whether a study requires an IDE and how to fulfill IDE requirements if the FDA should require an it for research involving the use of genomic technologies. Video is now available. View agenda and videos

Posted: June 09, 2016   |  Comments (0)

The Genomics Landscape

Clinical Sequencing: Beyond Exploration

Eric Green The Genomics Landscape for June features exciting developments with NHGRI's Clinical Sequencing Exploratory Research Program. We also highlight the new director of the National Library of Medicine, recently funded studies on the ethical, legal and social implications of genomic information, the final seminar commemorating the 25th anniversary of the launch of the Human Genome Project and available online videos for genome analysis lectures. Read more

Posted: June 07, 2016  

Bacterial toxins make the body go boom

Inflammasome By outward appearances, plants and animals don't seem to have much in common. When it comes to their immune systems, however, they might be more similar than their exteriors suggest. Researchers at the National Human Genome Research Institute have discovered an immune mechanism in humans, known as a "guard" mechanism, which was once thought to exist only in plants. They've published their results in the June 6 online journal Nature Immunology.
Read more

Posted: June 06, 2016  

The Genomic Landscape of Breast Cancer in Women of African Ancestry

Olufunmilayo Olopade On Tuesday, June 7, Olufunmilayo I. Olopade, M.D., F.A.C.P., will present The Genomic Landscape of Breast Cancer in Women of African Ancestry, the final lecture in the 2016 Genomics and Health Disparities Lecture Series. Dr. Olufunmilayo is director of the Center for Clinical Cancer Genetics at the University of Chicago School of Medicine. She is an expert in cancer risk assessment and individualized treatment for the most aggressive forms of breast cancer, stressing comprehensive risk-reducing strategies and prevention in high-risk populations. Read about the series

Posted: June 01, 2016  

Perspective: Precision medicine may move us beyond the use of race in prescribing drugs

167 new molecular entities (NMEs) approved by the FDA Between 2008 and 2013. 35 of the NMEs (21%) reported some racial or ethnic differences in pharmacokinetics, safety, efficacy or pharmacogenomics. Health care providers have long struggled with considering race when prescribing and dosing medications. In a May 26 New England Journal of Medicine perspective, Vence L. Bonham, J.D., an investigator with NHGRI's Social and Behavioral Research Branch, and his colleagues, are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall. Read more

Posted: May 25, 2016  

Video now available

A Quarter Century after the Human Genome Project's Launch presents:
The Genome is for Life

David Bentley On May 26th, the NHGRI History of Genomics Program completed its six-part seminar series featuring scientists who helped launch the Human Genome Project. David Bentley, D.Phil., Illumina's vice president and chief scientist of DNA sequencing, presented The Genome is for Life. Dr. Bentley was a driving force behind the Sanger Centre's immense contributions to the Human Genome Project, prior to joining Illumina. Watch it on GenomeTV now. Watch the video
Read more about the series

Posted: May 23, 2016  

Mouse models of Zika in pregnancy show how fetuses become infected

Mosquito A new mouse model of Zika virus infection in pregnancy is offering clues about how the virus works. Researchers at Washington University School of Medicine in St. Louis showed that the virus migrated from the pregnant mouse's bloodstream into the placenta, eventually infecting, and causing cell death, in the brains of the unborn pups. Using this mouse model, researchers hope to learn about the virus' biology and develop new vaccines and treatments. The research, co-funded by NHGRI, appears in Cell. Read the research | Read the press release

Posted: May 16, 2016  

Genome: Unlocking Life's Code heads southwest

Logo for Genome: Unlocking Life's Code It's on the move again. On May 21, Genome: Unlocking Life's Code, NHGRI's genomics exhibit, created in partnership with the Smithsonian's National Museum of Natural History, is headed to the Natural History Museum of Utah in Salt Lake City. Now traveling on a five-year, multi-city tour, the exhibit challenges visitors to explore the fascinating world of genome science through high-tech, hands-on learning. For a limited time only! See it there before Sept. 5! Read more

Posted: May 13, 2016  

NHGRI's advisory council to meet in open session

Council members group photo The open session for the seventy-seventh meeting of the National Advisory Council for Human Genome Research will meet Monday, May 16th, at the Fishers Lane Conference Center. NHGRI Director Eric Green, M.D., Ph.D., will report to council, followed by a talk from the new National Institute of Minority Health and Health Disparities director, Eliseo Perez-Stable, M.D.: NIMHD Vision and Agenda: Common Ground with NHGRI. Video of the meeting will be available soon.
View the agenda

Posted: May 11, 2016