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Highlights Archive


NIH to host a Reddit "Ask Me Anything" with CRISPR scientist, Dr. Jennifer Doudna

NIH is holding a Reddit "Ask Me Anything" (AMA) with Jennifer Doudna, Ph.D., and her research group, along with National Human Genome Research Institute (NHGRI) Centers for Excellence in Genomic Science (CEGS) program directors. They will answer questions about her research, her new center, and the CEGS program. Members of the media and public are invited to ask questions, or follow along with the conversation during the Reddit AMA.

Posted: January 11, 2018
Eric Green

The NIH Intramural Sequencing Center

This month's The Genomics Landscape features stories about the NIH Intramural Sequencing Center; the latest updcoming Reddit "Ask Me Anything" sessions that will tackle gene editing and recent research from the Ethical, Legal and Social Implications (ELSI) Research Program; a look back at the top scientific advances for 2017; and NIH Director Francis Collins' testimony to Congress in hearings about the 21st Century Cures Act, which recently celebrated its one-year anniversary.

Posted: January 09, 2018
Nikki Meadows

Improving science policy and healthcare through the NHGRI-ASHG fellowship

The health and medical care of Americans is greatly influenced by the policy decisions that guide genomic research. NHGRI and the American Society for Human Genetics (ASHG) are committed to strengthening the workforce of policy makers and analysts with genetics professionals through their Genetics and Public Policy Fellowship. The 2017-2018 fellow, Nikki Meadows, Ph.D., has just finished her first rotation at NHGRI. Learn about her experiences and what motivates her to pursue a career in science policy.

Posted: January 08, 2018
Midbrain neurons from the new mouse model. The green shows the clumped alpha-synuclein.

Mouse model for rare genetic disease advances understanding of Parkinson's

NHGRI researchers and their collaborators are making inroads into the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 issue of Molecular Genetics and Metabolism.

Posted: December 19, 2017
Reddit AMA: Genomics and Diversity participants

NHGRI talks diversity in genomics research for Reddit

After recently publishing a perspective in Nature Reviews Genetics describing the challenges to achieving diversity in genomics research, NHGRI leadership held a Reddit "Ask Me Anything" (AMA) on December 1 to discuss the variety of ways in which participant diversity can expand the translation of research findings and the steps they're taking to ensure all populations are included. Here we recap the discussion and point you to the full discussion on Reddit.

Posted: December 08, 2017
NHGRI Director Eric Green

A Responsible Approach to Genomics Research: Investing in Diversity

This month's The Genomic Landscape discusses recent studies that reveal knowledge gaps in the understanding of how the genome varies from person to person and population to population; a new educational genomics toolkit for physicians; electronic medical records and genomics; and NHGRI's Dr. Leslie Biesecker's election as the 2019 president for ASHG.

Posted: December 05, 2017
Koehly Lab members

Reddit "Ask Me Anything" Recap: The importance of knowing your family health history

On November 21, 2017, experts from NHGRI's Social and Behavioral Research Branch (SBRB) turned to a Reddit "Ask Me Anything" (AMA) to answer questions about their work on family health history. AMA hosts were Laura Koehly, Ph.D., SBRB chief, Chris Marcum, Ph.D., a staff scientist, and Jielu Lin, Ph.D., a post-doctoral fellow. The team answered questions from how to change behaviors after learning disease risk through family health history, to understanding risk when family health history is unknown. Here, we recap the event.

Posted: November 29, 2017

Prioritizing diversity in human genomics research

Precision medicine is a revolutionary approach to healthcare that takes into account individual differences in lifestyle, environment - and especially our genomes. However, a recent paper suggested that some people are being left behind. NHGRI recently published a perspective that lays out the challenges to achieving diversity in genomics research and what we are doing to help. Check out the new Nature Review Genetics publication that appeared online (ahead of print) on November 20.

Posted: November 21, 2017
Thanksgiving Dinner

This Thanksgiving, share your family health history

As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day, a day that can be important to the health of you and your family. Collecting your family health history can help you detect unique disease risks, manage them before becoming sick, and help with treatment and diagnosis if you do become sick.

Posted: November 21, 2017
Medical professionals

Genomics handbook provides customized education for physicians

A new educational resource is now available to help educators improve genomic literacy among physicians. Funded by the National Human Genome Research Institute (NHGRI), The Universal Genomics Instructor Handbook and Toolkit provides materials and guidance for educators implementing introductory training in genomic medicine.

Posted: November 16, 2017
Leslie Biesecker

Dr. Leslie Biesecker selected as 2019 president of ASHG

American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with NHGRI, as their new president-elect. In 2019, Dr. Biesecker will become president of ASHG, a professional membership organization for human genetics specialists worldwide. He will serve in his personal capacity. Dr. Biesecker is the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch.

Posted: November 15, 2017
U.S. Capitol Building

Watch now! Gene Editing Technology: Innovation and Impact

The Senate Health, Education, Labor and Pensions (HELP) Committee convened on Tuesday, November 14, 2017, to discuss the innovation and impact of genome/gene editing technologies with representatives from industry and academia. Watch the full committee hearing from the Dirksen Senate Office Building at U.S. Committee on HELP. To brush up on the technical and ethical questions surrounding genome editing, read all about it at Genome Editing.

Posted: November 13, 2017
Dog Genome Project Reddit AMA participants

Reddit "Ask Me Anything" Recap: The NHGRI Dog Genome Project

On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). Dog genomes hold a wealth of information for understanding natural variation in dog populations, like body size or fur type, and for learning more about how the genomes of both dogs and humans contribute to health and disease. Read a recap of the recap of the event.

Posted: November 08, 2017
NHGRI Director Eric Green

40th Anniversary of Landmark DNA Sequencing Methods

This month's The Genomic Landscape marks the 40th anniversary of the beginning of DNA sequencing methods. Developed by Fred Sanger and Alan Coulson, and Allan Maxam and Walter Gilbert, these methods eventually helped spawn the field of genomics. Dr. Green also sends best wishes to departing NHGRI researcher Barb Biesecker, highlights a recent dog genome project Reddit AMA and provides a reminder to learn your family health history on Thanksgiving.

Posted: November 07, 2017
Adult with ADHD daydreaming

Adult ADHD: An imbalance between the online and offline brain

A new NHGRI study has focused on why some people grow out of childhood attention deficit hyperactivity disorder (ADHD) while others continue to have symptoms into adulthood. The study found that adults with ADHD persisting from childhood partly lose the usual balance between brain systems that control action and those that emerge when daydreaming. Researchers have argued that this imbalance between the "online" and "offline" brain might account for the lapses of attention. The study was published Oct. 31, in PNAS.

Posted: November 07, 2017
Doctor and Patient looking at data on iPad

Apply Now: NIH-ACMG Fellowship in Genomic Medicine Program Management

NIH, in partnership with the American College of Medical Genetics and Genomics (ACMG), seeks qualified physicians interested in acquiring the credentials and experience to lead genomic medicine research and implementation programs at NIH and major medical centers and organizations. The goal of the 24-month fellowship is to increase the pool of physicians trained in managing research and implementation programs in genomic medicine. Applications are due December 1, 2017

Posted: November 01, 2017

eMERGE & Beyond: The Future of Electronic Medical Records and Genomics

On Monday, October 30, 2017, NHGRI hosted the program review workshop, eMERGE and Beyond: The Future of EHR and Genomics. The workshop highlighted the accomplishments of the Electronic Medical Records and Genomics (eMERGE) network as well as identified potential eMERGE future directions. The workshop identified gaps, discuss challenges and define future opportunities in genomic medicine research.

Posted: October 30, 2017
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