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Highlights Archive

Leslie Biesecker, M.D.

NHGRI branch chief elected to National Academy of Medicine

Leslie G. Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, has been elected to the National Academy of Medicine (NAM). Dr. Biesecker is a clinical and molecular geneticist who studies the cause of rare disorders, such as Proteus syndrome, to improve medical treatment for affected individuals. NAM recognizes individuals who have made major contributions to the advancement of medical science, health care and public health.

Posted: October 13, 2016
Eric Green

NHGRI technology development programs blaze forward

In this issue of The Genomics Landscape, we feature an overview of NHGRI's impressive technology development programs and the many accomplishments and goals those programs have achieved. There's also a story on an NHGRI training program that "turns docs into researchers," a review of a recent workshop that focused on family health history tools and a welcome to two new policy and education fellows.

Posted: October 04, 2016
Nucleic Acid

NIH commits $6.7 million to advance DNA, RNA sequencing technology

NHGRI is pushing beyond current capabilities in genome sequencing. New funding awards, totaling approximately $6.7 million, are part of a technology investment that began in 2004. The aim is to advance the development of genome sequencing technologies that are faster, cheaper, and more accurate and sensitive than those we already have.

Posted: October 04, 2016
DNA double helix

FDA requests comments on draft guidances for Precision Medicine Initiative

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 disease risk. The 90-day comment period ends October 6, 2016 at 11:59 p.m. Eastern

Posted: October 04, 2016
Peter McGuire, Ph.D.

Training docs to be researchers, too

The Physician-Scientist Development Program (PSDP) at the National Human Genome Research Institute helps physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to use the tools that unlock information in the human genome for real world applications, such as finding cures for genetic diseases. Armed with training from the PSDP, Dr. Peter McGuire joins the Division of Intramural Research as its newest faculty member.

Posted: October 03, 2016
D N A double helix

FDA to hold public workshop on guidelines for sequencing-based clinical tests

In July, the U.S. Food and Drug Administration (FDA) announced two draft guidances regarding principles that oversee the use of next-generation DNA sequencing (NGS) technologies, specifically providing guidelines for NGS-based clinical tests. The FDA will hold a public workshop this Friday, September 23rd on NIH's main campus to frame the workshop goals, provide moderated panel discussions and give the public an opportunity to comment.

Posted: September 21, 2016
Globe showing the different trade routes from Africa with arrows in the form of double helixes.

NHGRI researcher calls for more genomic research of Africans, people of the African diaspora

Researchers have begun identifying genetic mutations that evolved over thousands of years to protect Africans from disease pathogens. NHGRI Researcher Charles Rotimi, Ph.D., calls for comprehensive DNA sampling and genetic characterization of Africans and the people of the African Diaspora in an opinion article in the journal Current Opinion in Genetics & Development.

Posted: September 16, 2016
Doctor with Patient

HHS takes steps to provide more information about clinical trials to the public

In an effort to make information about clinical trials widely available to the public, the U.S. Department of Health and Human Services (HHS) has issued a final rule specifying the requirements for registering and reporting summary results information to The new rule expands the legal requirements for submitting results. NIH also has issued a complementary policy for submitting summary results information for all NIH-funded clinical trials.

Posted: September 16, 2016
Line graph illustration

NIH supports new computational approaches for studying the genome's regulatory regions

New NIH grants will fund developing computational approaches to finding the differences in DNA that make people susceptible to disease. The awards, totaling around $11.1 million, support research in identifying these differences - or genetic variants - in the less-studied regions of the genome. Understanding these variants should provide clues to understanding how disease develops.

Posted: September 14, 2016
New syndrome

NHGRI discovers new syndrome using "gene-matching" tools

NHGRI has found a new syndrome characterized by intellectual disability, hearing loss, abnormal sexual development and birth defects. It is caused by new mutations in CHD4, which regulates how DNA is packaged and how RNA copies gene sequences during development. Using "gene-matching" to connect scientists interested in the same gene, researchers found the first three cases. Read about it in the American Journal of Human Genetics.

Posted: September 08, 2016
Eric Green

Centers of Excellence in Ethical, Legal, and Social Implications Research (CEER) Program

In this issue of The Genomics Landscape, we feature the history of the Centers of Excellence in Ethical, Legal, and Social Implications Research (CEER) Program dating back to the early days of genomics. We also highlight recent workshops on sharing summary statistics in genomic data and investigative device exceptions, the next stop on the Genome: Unlocking Life's Code traveling exhibition and NHGRI's summer trainees.

Posted: September 06, 2016
Yersinia pestis

Bubonic plague engages in evolutionary arms race with its host

A recent study by NHGRI researchers, and collaborators uncovers the attacks and counter-attacks between Yersinia pestis - the bacteria that cause the bubonic plague - and their mammal hosts. The plague bacteria evolved a toxin to paralyze the host's immune system. The host fights the infection through fever and inflammation, which the bacteria then hijack and suppress using another toxin. The research published online August 25 in Cell Host & Microbe.

Posted: September 01, 2016
Patient and doctor discussing genetic results and healthcare

IGNITE and Beyond: The Future of Genomic Medicine Implementation

On Tuesday, August 30, 2016, the National Human Genome Research Institute (NHGRI) hosted the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting. The meeting focused on research opportunities in the integration of genomic medicine into clinical care, and evaluated the contributions of the Implementing Genomics in Practice (IGNITE) Network to genomic medicine. Video will be available soon.

Posted: August 26, 2016

NIH researchers discover otulipenia, a new inflammatory disease

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
Precision Medicine Cohort Prgram

Survey shows broad support for national precision medicine study

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
DNA Double Helix

Seeking: Director, Division of Genome Sciences

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.

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

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