Search Results
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… paper materials created or preserved during his tenure as NHGRI director from 1993 to 2008. “We recognized the … public wanting to know more about the development of genomics and the vital role played by NIH . We worked hard … years after the completion of the Human Genome Project in 2003, his full collection also includes numerous assets …
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. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called … fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… Examples of Consultation Services (in alphabetical order by institution) The University of … School of Medicine Our Genetic Testing Service is in the design phase, and we hope to begin late 2023. This is … we launched a “pooled” e-consult to field genetics and genomics questions at MGH. Specialists from 3 different …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… In the first study of its kind, researchers explored … expressed overall optimism about participating in human genome editing clinical trials, but were concerned … Branch of NIH's National Human Genome Research Institute (NHGRI). "This study couldn't come at a better time for the …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… had a wonderful time catching up with so many genetics and genomics colleagues at the American Society of Human Genetics (ASHG) Annual Meeting last month in snowy Denver. In addition to meeting with the ASHG Board … hours greeting genomics and genetics enthusiasts at the NHGRI booth on the exhibit floor. I am already looking …
The Genomics Landscape
In the December 2018 edition of The Genomics Landscape, NHGRI Director Eric Green recaps progress from NHGRI strategic planning process events in 2018.
… end. It has been another energetic and productive year at NHGRI, with every indication that 2019 will keep us just as busy. In particular - and as you will read below - the NHGRI strategic planning process is in full swing and being … NHGRI will hold a strategic planning session prior to the …
Media Advisory
NHGRI will host a two-day symposium addressing historical and present-day constructions of disability and ableism, with a focus on the history and lived experiences of people with disabilities in the context of genomics and genetics.
… The National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) will host a … history and lived experiences of people with disabilities in the context of genomics and genetics. The event is free and open to the … professor and author of “Hearing Happiness: Deafness Cures in History” Michael Rembis, director of the Center for …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… In February 2018 the National Human Genome Research Institute (NHGRI) launched a strategic planning effort to establish a 2020 vision for genomics aimed at accelerating scientific and medical … Provided below is background information on NHGRI's current strategic planning process, such as …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development … Genomics is, fundamentally, a data science. Nucleic acids are … storage medium on Earth and every organism has recorded “in their DNA” a history of life passed down from generation … for studying genomic function and disease. Their efforts in characterizing genomic variation across many diverse …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… to offer some “remote learning” opportunities provided by NHGRI. Later today at 2 p.m. ET, Vence Bonham (Senior Advisor … may be interested in applying to participate in the 2021 Short Course in Genomics — applications are due March 8. The second … currently underrepresented in the genomics enterprise. NHGRI has made a long-term commitment to enhance the …