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Highlights Archive


Patient with the doctor

Study identifies African-specific genomic variant associated with obesity

An international team of researchers has conducted the first study of its kind to look at the genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The findings were published March 13, 2017, in the journal Obesity.

Posted: March 13, 2017
Dr. William Gahl and Dr. Cynthia Tifft answer questions for the March 3, 2017, Reddit AMA

The UDN joins forces with Reddit for an "AMA"

On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.

Posted: March 08, 2017
Eric Green, M.D., Ph.D.>

Rare disease research, DNA Day and feedback for the dbGap

This month's The Genomics Landscape, takes a look at rare disease research at NHGRI (Rare Disease Research: Not So Rare) and sends out a reminder to celebrate National DNA Day on April 25th by encouraging STEM education and outreach programs to hold local events. Dr. Green also calls attention to a Request for Information (RFI) that asks for feedback on the data-submission and data-access process to help streamline and enhance data management and data sharing.

Posted: March 07, 2017

NIH and USDA scientists publish goat genome sequence

NIH and USDA researchers have developed a new technique for reconstructing highly accurate reference genomes and have applied it to the domestic goat. Accurate reference genomes are important for understanding an organism's biology, for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. The study was published March 6, 2017, in Nature Genetics.

Posted: March 06, 2017
A diverse group of people gathered in a circle talking.

PMI's All of Us Research Program moves forward

The Precision Medicine Initiative (PMI) All of Us Research Program, is sponsoring a workshop, Return of Genetic Results, on March 6-7 in Bethesda, Maryland. The workshop will focus on how to recruit 1 million American participants who represent the diversity of the United States, and discuss the challenges and solutions to returning genetic research results. Can't attend in person? Watch the workshop online! See NIH Videocasting and Podcasting.

Posted: March 02, 2017
Rare Disease Day

Celebrate Rare Disease Day 2017 at NIH

The National Center for Advancing Translational Sciences and the National Institutes of Health will celebrate Rare Disease Day on February 27, 2017 from 8:30 a.m. - 4:00 p.m. at Masur Auditorium, Building 10, on the Bethesda campus. Admission is free and open to the public in person or via webcast. In association with Global Genes®, participants are encouraged to wear their favorite pair of jeans! Rare Disease Day® takes place worldwide to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives.

Posted: February 23, 2017
In Gaucher's disease, the small molecule NCGC607 chaperones mutated protein to the nerve cells, helping to break down the cell's waste products. Research on Gaucher's is just one of the rare diseases that could both benefit affected patients and provide insight into common disorders.

Rare disease research may benefit common diseases

National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also provides insights into more common disorders. They are underlining this important relationship in advance of Rare Disease Day at NIH, a day-long symposium that is part of a global effort to raise awareness of rare diseases. There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. In the United States, rare diseases affect 10 percent of the population.

Posted: February 23, 2017
RNA Transcription

We need your input: dbGaP Data Submission and Access Process

NHGRI believes that broadly sharing research data will result in maximum public benefit, and we're committed to providing researchers with access to genomic data. The National Institutes of Health (NIH) Genomic Data Sharing Policy establishes a system to promote data sharing, while also protecting research participants involved in genomics studies. We need your help to improve one of NIH's central data sharing tools for human genomic data: the database of Genotypes and Phenotypes, or dbGaP.

Posted: February 21, 2017
ENCODE Reddit AMA Participants: Mike Pazin, Dan Gilchrist and Elise Feingold

Reddit "Ask Me Anything": The ENCODE Project

NHGRI's ENCODE Project has spent 13 years building a catalog of all the functional elements in the human genome sequence, and making it available to scientists worldwide for the study of human health and disease. On February 9, 2017, ENCODE program directors in the Division of Genome Sciences at NHGRI, and ENCODE researchers from the University of California, San Francisco, turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community. Here's an event recap.

Posted: February 17, 2017
Doctor showing sequence data on iPad to patient

New NIH-ACMG fellowship to boost pool of physicians managing genomic medicine programs

The National Institutes of Health (NIH), in partnership with the American College of Medical Genetics and Genomics (ACMG), is seeking qualified physicians interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations. The goal of this fellowship is to increase the pool of physicians trained in managing research and implementation programs in genomic medicine.

Posted: February 15, 2017
Jeffrey Schloss

Jeffery Schloss, a pioneer of genome sequencing technology, retires

Jeffery Schloss, Ph.D., director of the Division of Genome Sciences at NHGRI, has retired after a successful career leading NHGRI's DNA Sequencing Technology Development Program and launching the Centers of Excellence in Genomics Sciences (CEGS) program. Known for his intellect, leadership and dedication, Dr. Schloss shares the story of his career path and the significant contributions he and his team achieved while at NHGRI.

Posted: February 13, 2017
Melanoma

NIH study reveals how melanoma spreads

Newly identified genes and genetic pathways in primary melanoma - the most serious form of skin cancer - could give researchers additional targets for developing new, personalized treatments for melanoma and, potentially, other cancers. Learning how these genes are expressed - turned on or off - could be used in the future to predict how and when the cancer cells will spread to other parts of the body and how fast they will grow. Read the study in the February 6, 2017, online issue of Pigment Cell and Melanoma Research.

Posted: February 08, 2017
Induced pluripotent stem cells (iPSC)

Findings: Induced pluripotent stem cells don't increase genetic mutations

Despite immense promise, adoption of induced pluripotent stem cells (iPSCs) in biomedical research and medicine has been slowed by concerns that these cells are prone to increased numbers of genetic mutations. A new study by NHGRI scientists suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning. Read the study in the early edition of The Proceedings of the National Academy of Sciences. for February 6, 2017.

Posted: February 07, 2017
Eric Green, M.D., Ph.D.>

Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research

In the February The Genomics Landscape, NHGRI Director Eric Green reports on an NHGRI and National Institute on Minority Health and Health Disparities (NIMHD) workshop held in October, which addressed the use of race and ethnicity data in genomics, and biomedical and clinical research. Also included: A new policy for the protection of human subjects, newborn sequencing, the next phase of ENCODE and a new fellowship now available in genomic medicine program management.

Posted: February 07, 2017
GWAS chip and Behçet's disease

Research provides more insight into genetic basis of Behçet's disease

Behçet's disease is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. The study appears in the February 6, 2017 online version of Nature Genetics.

Posted: February 06, 2017
The genome in three dimensions

NIH to expand critical catalog for genomics research

The National Institutes of Health (NIH) plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a fundamental genomics resource used by many scientists to study human health and disease. Funded NHGRI, a part of the NIH, the ENCODE Project strives to catalog all genes and regulatory elements - the parts of the genome that control whether genes are active or not - in humans and select model organisms. Four years of additional support will build on a long-standing commitment to developing freely available genomics resources for use by the scientific community.

Posted: February 02, 2017

UDN guide to diagnosing medical mysteries published

Since 2015, the Undiagnosed Diseases Network (UDN) has been working toward creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical management of these disorders; and advance research. UDN members have now published a how-to guide for diagnosing medical mysteries for medical centers nationwide. Read about it in the American Journal of Human Genetics.

Posted: February 02, 2017
Council members

Advisory council open session featured data sharing

The open session for the seventy-ninth meeting of the National Advisory Council for Human Genome Research met Monday, Feb. 6th, at the Fishers Lane Conference Center. NHGRI Director Eric Green, M.D., Ph.D., reported to council and speakers presented talks on the NIH data commons and an NHGRI sandbox resource for data sharing and analysis. Video will be available soon.

Posted: January 31, 2017
Female doctor comforting female patient

New policy strengthens protections for human subjects

The final version of the Common Rule, also known as the Federal Policy for the Protection of Human Subjects, strengthens protections for people who volunteer to participate in research. At the same time, it ensures that the oversight system does not add inappropriate administrative burdens, particularly to low-risk research. The final rule was published January 19, 2017. Federally funded research must comply with the changes beginning on January 19, 2018.

Posted: January 24, 2017
20 year anniversary graphic with fireworks and double-helix

NHGRI turns 20!

This month, the National Human Genome Research Institute (NHGRI) celebrates 20 years as an NIH institute! The milestone highlights the transition from the center known as the National Center for Human Genome Research, to our current status as a full-fledged NIH institute. Those 20 years encompassed a host of research accomplishments, from the completion of The Human Genome Project, to DNA sequencing technology development, to bringing genomic medicine to the clinic. Happy Birthday, NHGRI! Here's to another 20 great years!

Posted: January 10, 2017
Eric Green

Jeff Schloss, NHGRI's catalyst for DNA sequencing technology development, retires

In this month's The Genomics Landscape, we reflect on the career of Jeffery Schloss, Ph.D., who led the DNA sequencing technology development and the $1,000 Genome programs. We also feature the new dbGap Data Browser; the "Your DNA, Your Say" survey from the Global Alliance for Genomics and Health; Dr. Diana Bianchi's new NHGRI laboratory; and the applications for the 2017 ASHG/NHGRI policy and education fellowships.

Posted: January 10, 2017
Health Disparities and the Microbiome

The microbiome's role in health disparities requires multi-disciplinary research

In a perspective published in the journal Trends in Microbiology, NHGRI researchers and their colleagues call for health disparities research that focuses on the microbiome. Health disparities and the microbiome are influenced by people's environments and social interactions. According to the researchers, the microbiome and health differences experienced by diverse people may be a two-way street, with biological and environmental factors influencing each other.

Posted: January 10, 2017
Teresa Ramirez and Christa Wagner

NHGRI-ASHG fellowships fulfill critical need in science policy and education

For several years, NHGRI and the American Society of Human Genetics (ASHG) have provided a pathway for scientists who want to pursue careers in science policy or education. The Genetics and Public Policy Fellowship and the Genetics and Education Fellowship offer effective experiences in the public, private and non-profit arenas to those with graduate education in genetics. These fellowships help build the skills required to inform science policy and education. Our 2016-2017 fellows share what they've accomplished.

Posted: January 07, 2017
Tree figure made of DNA double helix with family members on branches

Taking family health history from multiple family members improves accuracy

Your family health history can identify whether you are at a higher risk for some diseases. But people don't necessarily know their entire family's health history. A new study shows that asking multiple family members for family health histories can improve the accuracy of both the family's health history and personalized risk assessments. NHGRI intramural researchers published the study in the American Journal of Preventive Medicine on January 4, 2016.

Posted: January 04, 2017
DNA Day Essay Contest

The 2017 National DNA Day Essay Contest is open!

Geared to students grade 9-12 worldwide, the American Society of Human Genetics (ASHG) DNA Day Essay Contest celebrates National DNA Day by asking students to examine, question and reflect on important concepts in genetics. This year's question asks students to describe a disease or condition researchers are attempting to treat and how gene therapy might repair the underlying cause of the disease or condition. Deadline: March 10, 2017, at 5 p.m. U.S. Eastern Time. See: DNA Day Essay Contest

Posted: January 04, 2017
A bear family

This holiday season, resolve to discover your family health history

Family gatherings around the holidays are the perfect time to learn about your family's health history. A few thoughtful questions can reveal a pathway to preventing future disease and improving your health. Vice Admiral Vivek H. Murthy, M.D., M.B.A., the U.S. Surgeon General, has upheld this proud tradition, and encourages Americans to talk about their family health histories and to eventually record their inherited health conditions.

Posted: December 19, 2016
Eric Green

Genomics in Africa expands through the Human Heredity and Health in Africa Program

This month's The Genomics Landscape features stories about the expansion of the Human Heredity and Health in Africa (H3Africa) program, mouse knockouts and the "druggable" genome, the full ancestry data the Genome-Wide Association Study Catalog is releasing and all the latest news, funding opportunities and genomics research from NHGRI. There's also a reminder about the My Family Health Portrait tool, a place to share health information and learn about familial health conditions.

Posted: December 06, 2016

Physician attitudes will impact adoption of prenatal whole genome sequencing

Through a simple blood test, physicians will soon be able to map the fetus' entire collection of genes (the whole genome) using fetal DNA that floats in the mother's blood. But a survey of 1,000 physicians says that ethical guidelines must be developed first. Researchers with the National Human Genome Research Institute published their findings in the December 6th issue of the journal Prenatal Diagnosis.

Posted: December 06, 2016
Group of people holding letters of U, D, N

Undiagnosed Diseases Network sticks around

The Undiagnosed Diseases Network, an NIH Common Fund program aimed at solving challenging medical mysteries, isn't going anywhere anytime soon. The program has just approved funding through 2022. With this investment, the UDN will continue to accept participants with undiagnosed conditions and hopes to better understand how to become self-sustaining in the future. Funding announcements are planned for Summer 2017, pending available funds.

Posted: November 29, 2016
Prostate cancer

NHGRI researchers discover new genetic variants that increase prostate cancer risk

About half of a man's risk for developing prostate cancer arises from malfunctioning genetic variants that are inherited. Finding those variants is challenging, in part because each variant makes a modest contribution to disease risk. By examining the whole exomes - the 1-2 percent of the genome containing protein-coding genes - of 75 high-risk families, NHGRI researchers identified three new variants that increase a man's risk for developing prostate cancer. The findings were published Nov. 26 in Oncotarget.

Posted: November 28, 2016