Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… programs of the National Human Genome Research Institute (NHGRI) and provides periodic technical and scientific peer … peer review of the work of individual investigators in the Division of Intramural Research (DIR). Board members … Ph.D. Boston Children’s Hospital Division of Genetics and Genomics Term ends 6/2028 Adam Siepel, Ph.D. Cold Spring …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. … … bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, …
The Genomics Landscape
In the September 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Robert Rivers as the new director for institute’s Training, Diversity, and Health Equity (TiDHE) Office.
… We have an exciting month ahead at NHGRI, starting with the September 2024 meeting of the … All the best,  … The impact of clinical genome sequencing in a global population with suspected rare genetic disease … in biomedical research. Dr. Rivers also managed NIDDK’s Short-Term Research Experience Program to Unlock Potential …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… address to the entering class at Spelman College in Atlanta, Georgia. Since most of the students in attendance … for life science and biomedical research. Many of us at NHGRI are gearing up for the American Society of Human … the best, … Genome-wide detection of somatic mosaicism at short tandem repeats Sehgal, et al. Bioinformatics, August …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… passage of a new budget this fiscal year. The CR allows NHGRI to continue to function and perform most of our normal … to bring to your attention a spectacular recent feature in Science that describes the remarkable work of NHGRI’s … backgrounds will benefit equitably from advances in human genomics. Speakers: Robert Winn, M.D., Virginia Commonwealth …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… your summer plans — and if you happen to find yourself in the D.C. area — I would encourage you to visit the Genome: … Natural History. As described in the December issue of The Genomics Landscape , the exhibition debuted at the … GenomeTV starting at 11:30 a.m. ET to hear updates about NHGRI and genomics research more broadly. The first hour of …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… I recently had the opportunity to highlight the progress in genomics over the last three decades – from the early years … field that is increasingly relevant to peoples’ lives. NHGRI strives to be at the forefront of efforts to engage and …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to … of daily living. GNE Myopathy results from variants in a gene called GNE , which is responsible for a step in the … Speakers Series Presenter: Marjan Huizing, Ph.D., NHGRI, NIH. Disorders of Sialic Acid Synthesis: Pathway and …
The Genomics Landscape
In the June 2024 issue of The Genomics Landscape, NHGRI Director Eric Green recognizes the 2023 recipients of the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
… Last month was a busy time at NHGRI, including a very productive meeting of the National … this meeting, was announcing the first cohort of fellows in the new American Society for Human Genetics (ASHG)-NHGRI Genomics and Public Service Fellowship Program. Note that I …
The Genomics Landscape
In the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… It may be summer, but things are incredibly busy for me and NHGRI! Last month, I visited Australia for a week, during … of that talk is now available on YouTube . I was last in Australia 12 years ago, and I was overwhelmingly impressed … reporting this piece on the NPR science podcast Short Wave . …  In collaboration with the NIH’s Sexual and …