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Highlights Archive


Carolyn Hutter

Dr. Carolyn Hutter to lead NHGRI's Division of Genome Sciences

The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, Ph.D. the director of the Division of Genome Sciences - the NHGRI division that leads research aiming to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic discoveries. Dr. Hutter comes to the position with extensive experience leading large-scale genomics research programs.

Posted: February 20, 2018
NHGRI Strategic Plan 20/20

Developing a 2020 vision for genomics: NHGRI launches new round of strategic planning

The National Human Genome Research Institute today launched a new round of strategic planning that will establish a 2020 vision for genomics research aimed at accelerating scientific and medical breakthroughs. In developing the strategic plan, the institute will engage experts and diverse public communities to identify paradigm-shifting areas of genomics that will expand the field into new frontiers and enable novel applications to human health and disease.

Posted: February 12, 2018
ELSI Reddit AMA

Reddit talk sparks questions on the ethical, legal and social implications of genomics research

Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data and what we can learn from it is even more crucial. On January 29, 2018, NHGRI hosted a Reddit "Ask Me Anything" (AMA) with program directors from the Ethical, Legal and Societal Implications research program and NHGRI policy experts. Questions ran the gamut of who owns an individual's DNA and the information stored in it, to the implications of genetic testing for children and newborns.

Posted: February 12, 2018
NACHGR

82nd NHGRI advisory council met February 12th

The National Advisory Council for Human Genome Research met in open session on Monday, February 12th. Dr. Green reported to council and present a vision for the next round of NHGRI Strategic Planning for 2020. National Center for Biotechnology Information (NCBI) director James Ostell, Ph.D. presented on NCBI in a data-enabled world. NHGRI staff reported on novel nucleic acid sequencing technology development and the Human Microbiome Project. Video will be available shortly. Posted: February 09, 2018

NHGRI Director Eric Green

New Director of NHGRI's Division of Genome Sciences: Carolyn Hutter, Ph.D.

This month's The Genomics Landscape features stories about the appointment of Carolyn Hutter, Ph.D., as the new director of NHGRI's Division of Genome Sciences; the appointment of Alex Azar as secretary of the Department of Health and Human Services; an upcoming webcast to announce NHGRI's new strategic planning process and the loss of Dr. Arno Motulsky, a prominent and highly accomplished human and medical geneticist, and a founder of the field of pharmacogenomics.

Posted: February 06, 2018
Hospital Corridor

Antibiotic-resistant plasmids flourish in hospital plumbing

Antibiotic-resistant organisms can be found on hospital countertops, doorknobs, computers, sinks and even inside the plumbing. Investigators at the National Institutes of Health (NIH) recently conducted whole genome sequencing on samples from pipes beneath the NIH Clinical Center. The majority of samples from pipes and sewers tested positive for bacterial plasmids that confer resistance to the "last-resort" antibiotics given to hospital patients who develop infections from pathogens that are multidrug-resistant. The study was published Feb. 6, 2018 in mBio.

Posted: February 06, 2018
Jennifer Doudna

CRISPR Ask Me Anything hits Reddit's front page

On January 18, 2018, NHGRI hosted a CRISPR "Ask Me Anything" (AMA) with Jennifer Doudna, Ph.D., and her research group that was so popular it landed on the front page of Reddit, reaching a total of 10.5 million people worldwide! Dr. Doudna, along with program directors for the Centers of Excellence in Genomic Science (CEGS) Research Program in NHGRI's Division of Genome Sciences, answered nearly a hundred questions about CRISPR, the immune system, and how CRISPR can be used to treat specific diseases. Here's a recap.

Posted: February 02, 2018
Prince Mahidol Award for Human Genome Project

The Human Genome Project is awarded the Thai 2017 Prince Mahidol Award for the field of medicine

The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine. The award will be received on behalf of the project by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), and the institute responsible for leading NIH's effort in the project. Posted: February 01, 2018

DNA Day

The 2018 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 if medical professionals should be required for all genetic testing, or should consumers have direct access to predictive genetic testing? Deadline: March 9, 2018, at 5:00 p.m. U.S. Eastern Time. Winners will be announced on National DNA Day, Wednesday, April 25, 2018.

Posted: February 01, 2018
Buffet of Food

Researchers study mothers' food choices at virtual reality buffet

Many Americans love all-you-can-eat buffets - but how do they choose what to eat? Using a virtual reality (VR) buffet, NHGRI researchers studied the hundreds of micro-decisions mothers make while selecting food for their children to better understand the mechanism through which some made healthier choices. Eventually, researchers may be able to design better interventions to improve people's food choice behavior and "nudge" people toward more healthy choices.

Posted: January 24, 2018
Online genetic counseling

Study: Sharing genomic results online works well for many, reduces health care costs

The cost of sequencing a person's genome has fallen considerably in the past 25 years. However, the cost of communicating genome results to patients is still sky-high, relying as it does on one-on-one counseling. In a new study, National Human Genome Research Institute researchers determined that sharing some types of genomic results online works well and could reduce health care costs. The next research question? Finding those for whom online sharing of genomic results doesn't work and ensuring they get in-person services.

Posted: January 23, 2018
People in the shape of a double helix

NIH to host a Reddit "Ask Me Anything" on the ethical, legal and social implications of genomics research

On Monday, Jan. 29, 2018, the National Institutes of Health will hold a Reddit "Ask Me Anything" (AMA) with experts from NHGRI's Ethical, Legal and Social Implications research program to discuss a variety of topics ranging from how diverse communities receive equitably the benefit of genomics, or how your genome can be used to discriminate against you and the protections to ensure that doesn't happen. The media and the public are invited. A link to submit questions will be available at 8 a.m., Jan. 29th.

Posted: January 19, 2018
CRISPR Cas9

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

NIH held 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 answered questions about her research, her new center, and the CEGS program. Members of the media and public got answers to many of their questions! You can read the conversation at Reddit Science 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