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Highlights Archive

Hands in a circle with different skin colors.

New regions of the human genome linked to skin color variation in some African populations

In the first study of its kind, an international team of genomics researchers have identified new regions of the genome that are associated with skin color variation in some African populations. In these newly identified regions are genes that repair DNA damage caused by UV light, are associated with albinism and contribute to the production of a novel lysosomal protein. Lysosomes play a role in optimizing nutrition, fighting infections and now, with these findings, in pigmentation. The study was published October 12 in Science.

Posted: October 12, 2017
NHGRI Director Eric Green

The GTEx Project: Its Legacy Lives On

This month's The Genomics Landscape features a story about The GTEx Project's legacy, which lives on in its now publicly available atlas for studying human genomic variation and how it relates to gene expression. Also, best wishes to Dr. Jean McEwen, who recently retired from NHGRI's Division of Genomics and Society and management of the Ethical, Legal, and Social Implications (or ELSI) Research Program; a request for comments on the Genomic Data Sharing Policy; and changes to policies that guide the stewardship of NIH-funded clinical trials.

Posted: October 11, 2017
expression Quantitative Trait Loci (eQTL)

NIH completes atlas of human DNA differences that influence gene expression

Researchers from the Genotype-Tissue Expression (GTEx) Consortium, funded by the National Institutes of Health (NIH), have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences across human tissues and cell types.

Posted: October 11, 2017
Combination Lock with the letters A-T-C-G

New policy to protect research participants of NIH-funded research

The 21st Century Cures Act, enacted December 13, 2016, strengthened privacy protections for research participants. Now, a new policy specifically requires additional protections for sensitive information collected from participants as part of federally-funded research. The National Institutes of Health (NIH) recently put forth this new policy requiring all NIH-funded investigators conducting sensitive, health-related human subjects research be issued Certificates of Confidentiality instead of by researcher request.

Posted: October 03, 2017
Genomic Data Sharing

NIH to host webinar on proposed update to Genomic Data Sharing Policy

In follow up to the September 20 release of the Request for Public Comment on a proposed update to the data management of genomic summary results under the NIH Genomic Data Sharing (GDS) Policy, experts from the NIH Office of Science Policy (OSP) and NHGRI will host a webinar at 12:00 p.m. Eastern on October 4, 2017. An overview of the proposed update will be provided as well as time for questions from the public. To participate in this Webinar, please pre-register here.

Posted: September 29, 2017
Genome: Unlocking Life's Code Exhibit

Genome: Unlocking Life's Code goes international!

Genome: Unlocking Life's Code, the traveling genomics science exhibit created by NHGRI and the Smithsonian National Museum of Natural History, needs a passport ... because it's going international for the first time! The exhibit will move on to Science North in Sudbury, Ontario, Canada. From September 30, 2017 - January 1, 2018, check out the hands-on, interactive activities sure to get you excited about the world of genome science. The exhibit relates the exciting history genomic research, showcases its bright future, and highlights the increasing relevance of genomics in our lives today.

Posted: September 29, 2017
Scientific Data Management

NIH seeks comment on proposal to update data management of genomic summary results

The National Institutes of Health (NIH) has issued a notice in its Guide to Grants and Contracts seeking public comment on a proposed update to the data management of genomic summary results under the NIH Genomic Data Sharing (GDS) Policy. The proposed update to the data management practices would help support NIH's goals to promote scientific advances and protect research participants' privacy interests by allowing genomic summary results to be provided via a public, rapid-access model.

Posted: September 20, 2017
Nurse and doctor discuss health information related to a patient.

New toolkit helps nurses use genomics in patient care

Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources, part of a new website launched by the National Human Genome Research Institute. Developed with input from clinical educators and administrators, The Method for Introducing a New Competency in Genomics (MINC) website provides resources for nursing leaders at all levels of genomics competency, ranging from basic knowledge about genomics to its practical impact on healthcare systems and policies.

Posted: September 19, 2017
Herman Taylor

Risk, Race & Resilience: Three Dimensions of Health Disparities

On Tues., Sept. 19, Herman Taylor, Jr., M.D., M.P.H., a nationally-recognized cardiologist and researcher, will talk on Risk, Race & Resilience: Three Dimensions of Health Disparities for NHGRI's Genomics and Health Disparities Lecture Series. Dr. Taylor is principal investigator and director for the Jackson Heart Study, the largest epidemiological study of African Americans and cardiovascular disease ever undertaken. Attend at Lipsett Amphitheater, Building 10, 3:00 to 4:00 p.m.

Posted: September 18, 2017
The faces of ethnic groups with Noonan syndrome

NHGRI researchers and collaborators identify Noonan syndrome in diverse people

Using facial analysis software, researchers with the National Human Genome Research Institute (NHGRI) and their collaborators successfully diagnosed Noonan syndrome in Africans, Asians and Latin Americans. Noonan syndrome will become part of the Atlas of Human Malformation Syndromes in Diverse Populations, a free online tool that helps healthcare providers better recognize and diagnose rare diseases in non-Europeans. The findings were announced in the September 2017 issue of the American Journal of Medical Genetics.

Posted: September 15, 2017

81st NHGRI advisory council to meet September 11th Live

The National Advisory Council for Human Genome Research will meet in open session on Monday, September 11th. Dr. Green will report to the council, Lawrance Tabak, D.D.S., Ph.D., from the National Institute of Dental and Craniofacial Research, will give a talk on the Next Generation Researchers Initiative, and NHGRI staff will report on the programs eMERGE, NSIGHT, TCGA and the activities of the Genomic Medicine Working Group. Watch it Live Now

Posted: September 08, 2017
NHGRI Director Eric Green

Genome Editing: How, When, and Why?

With the acceleration of interest in genome editing, NHGRI Director Eric Green addresses the topic in this month's The Genomic Landscape, taking a comprehensive look at genome editing technology, NHGRI's use of a variety of gene editing techniques and a new resource about genome editing available on Other topics include genomics and clinical care, NHGRI's summer interns and a visit from Native graduate health fellows to the NIH Clinical Center and NHGRI.

Posted: September 06, 2017
2017 NHGRI Summer Interns

NHGRI's summer interns help expand a critical resource for diagnosing patients

Three students from this year's NIH Summer Internship Program in Biomedical Sciences share their experience spending the summer working on The Atlas of Human Malformation Syndromes in Diverse Populations, an online resource that helps healthcare providers diagnose patients from geographically diverse regions of the world. Thousands of applicants compete for spots in the program, which places interns at NHGRI and other institutes to conduct basic and clinical research.

Posted: September 06, 2017

Sequencing all 24 human chromosomes uncovers rare disorders that may affect pregnancy

Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine

Posted: August 30, 2017
Stethoscope on top of a tablet

UDN releases new funding opportunities

NIH's Undiagnosed Diseases Network (UDN) recently released five funding opportunities that continue research in improving the level of diagnosis and care for patients with undiagnosed diseases. The network plans also to study what's required to ensure its sustainability after NIH Common Fund funding ends. Pending the availability of funds and sufficient applications, the program expects to create a coordinating center, 8-10 clinical sites and 3-6 core laboratories to focus on model organisms, DNA sequencing and metabolomics. To help potential applicants, UDN will hold an informational webinar Sept. 14th, from 3:00-4:30 p.m. Eastern.

Posted: August 23, 2017
Katherine Janeway

Watch: The 2017 Trent Lecture: Bringing Genomics to the Pediatric Oncology Clinic

NHGRI's Division of Intramural Research presented the 13th Jeffrey M. Trent Lecture in Cancer Research on Wednesday, Sept. 6, 2017, at the Lipsett Amphitheater, Building 10, NIH. Katherine A. Janeway, M.D., MMSc, the clinical director of the Solid Tumor Program at Dana Farber-Boston/Children's Cancer and Blood Disorders Center, delivered the lecture Bringing Genomics to the Pediatric Oncology Clinic: Diagnosis, Treatment Selection and Rational Clinical Trial Design. Video is now available..

Posted: August 18, 2017

NIH to host workshop on advances, future needs in human microbiome research

Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The ten-year, National Institutes of Health (NIH) Common Fund Human Microbiome Project was established to understand how microbial communities impact human health. On August 16-18, 2017, NIH will host a workshop, The Human Microbiome: Emerging Themes at the Horizon of the 21st Century, to share the latest research on the human microbiome, and to evaluate what is needed to advance this field over the next decade.

Posted: August 10, 2017
Genomic Medicine in Diverse and Underserved Populations

NIH accelerates the use of genomics in clinical care

The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerates the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in healthcare settings that extend beyond academic medical centers.

Posted: August 08, 2017
Zebrafish DNA

ASHG weighs in on human genome editing

The American Society of Human Genetics and ten other organizations have just issued a policy statement on human germline genome editing, published August 3rd in the journal American Journal of Human Genetics. Germline editing is adding, removing or replacing parts of DNA in the cells that will get passed down to the next generation. Want to learn more about genome editing? Check out our new resource: Genome Editing.

Posted: August 03, 2017
NHGRI Director Eric Green

4th ELSI Congress showcases societal implications of genomics research

This month's The Genomic Landscape reports on the three-day, 4th ELSI Congress held in June, the tenth genomic medicine meeting, which addressed research in pharmacogenomics and gives a shout out to Three-Minute Talk winner, NHGRI's own Ryan Johnson, Ph.D., a post-doctoral fellow in the laboratory of Julie Segre, PH.D. There's also information on the new executive director of the American Society of Human Genetics.

Posted: August 01, 2017
Ryan Johnson

NHGRI's Ryan Johnson first place winner in 2017 TmT competition

NHGRI and other institutes at the National Institutes of Health recently participated in a high-energy science communications contest called the Three-Minute Talk (TmT). NHGRI's Ryan Johnson, Ph.D., came away with a first place win after the finals on June 29. Three other postdoctoral intramural trainees from NHGRI - Ralu Nicoli, Cihan Oguz and Anthony Kirilusha - also participated in the finals, taking on the challenge to use plain language and one PowerPoint slide to explain their research in three-minutes or less.

Posted: July 27, 2017
Chemotherapy Ward Co-presence Network

Social interaction affects cancer patients' response to treatment

Cancer patients were a little more likely to survive for five years or more after chemotherapy if they interacted during chemotherapy with other patients who also survived for five years or more, according to a new study by researchers at the National Human Genome Research Institute, part of the National Institutes of Health, and the University of Oxford in the United Kingdom. The findings were published online July 12, 2017, in the journal Network Science.

Posted: July 17, 2017
Fusion of Myoblast Cells

NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome

An international team of researchers has identified the genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare, inherited muscle disorder. Their findings provide insight into the development of an embryo's muscles and the regeneration of muscle cells after injury. The study was published today July 6, 2017 in Nature Communications.

Posted: July 06, 2017
Dr. Eric Green

The NHGRI Extramural Grant Portfolio: Using Different Approaches to Fund Genomics Research

In the July issue of The Genomics Landscape, NHGRI Director Eric Green discusses the different approaches NHGRI uses to fund genomics research, among them RFAs and PAs to guide extramural applicants relative to the institute's programmatic interests, and managed consortia that bring together investigators to tackle large research problems. There's also information about the new NCI director, the expansion of the G2C2 website and an educational workshop on Henrietta Lacks.

Posted: July 06, 2017

Study examines microbial role in childhood eczema

NHGRI and NCI researchers are probing microbes - bacteria, fungi and viruses - to understand their role in childhood eczema. Using metagenomic sequencing analyses - a powerful sequencing approach that provides insight into microbial biodiversity and function - Julie Segre, Ph.D. (NHGRI), Heidi Kong, M.D., (NCI), and colleagues, pinpointed the presence of unique strains of Staphylococcus aureus in patients with severe eczema and mixed strains of Staphylococcus epidermidis in all individuals. The study was published July 5, 2017, in Science Translational Medicine.

Posted: July 06, 2017
Genome: Unlocking Life's Code Exhibit

In the Houston area? Visit our traveling exhibit!

Genome: Unlocking Life's Code, our museum exhibit created with the Smithsonian National Museum of Natural History, and designed for a cross-country tour, is heading south to Houston! It will visit The Health Museum from June 12-September 11, 2017. The exhibit began its journey in Washington, D.C. and was constructed to be disassembled and transported to museums and science centers across the United States. Traveling on a five-year, multi-city tour, this fascinating exhibit challenges visitors to explore the wonderful world of genome science through high-tech, hands-on learning.

Posted: June 12, 2017

NHGRI study highlights role of mitochondria in immune response

A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response. Basing their research on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells. The mutations resulted in an increased risk of infection and reduced protective immunity after vaccination. The study appeared June 6, 2017, in the journal Cell Metabolism.

Posted: June 07, 2017
Dr. Eric Green

A Proposed Genomic Literacy, Education, and Engagement (GLEE) Initiative

In this month's The Genomics Landscape, NHGRI Director Eric Green details a strategic visioning meeting in March to launch the GLEE Initiative - a national campaign to enhance genomic literacy while keeping pace with the advances in genomics. Also included: The Genomics and Health Disparities Lecture Series welcomes its sixth speaker, Dr. Mark Cullen, from the Stanford Center for Population Health Sciences and Dr. Cynthia Tifft receives the National Organization for Rare Disorders 2017 Rare Impact Award.

Posted: June 06, 2017
NHGRI is on Flickr

Genomics Imagery on Flickr!

Looking for genomics or health related images? NHGRI has launched a new image gallery on Flickr, featuring our favorite scientific illustrations, infographics, and photos of our staff. Our new Flickr gallery lets you use our imagery as a resource for work presentations, school projects, news reports or just simply to enjoy. Unless otherwise noted, our images on Flickr are free to use. Just credit our organization and the artist or photographer. Images will be updated weekly. Check back often - and enjoy!

Posted: May 18, 2017
Deana Around Him with her family

Community focus is central to American Indians/Alaska Natives ethics training at NIH

Since 2014, NIH has offered Institutional Review Board (IRB) training to American Indians and Alaska Natives. Dr. Deana Around Him, a citizen of the Cherokee Nation and training participant, learned how NIH ensures the welfare of people who participate in biomedical studies and helped improve the IRB training.

Posted: May 16, 2017