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News Release
The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine.
… The Human Genome Project has been awarded the 2017 Prince Mahidol … by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National … The Human Genome Project, completed in 2003, was an … aimed at the complete mapping and sequencing of the human genome. Its overarching goal was to provide researchers …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences … The original human genome reference sequence was generated by the Human …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… The human genome reference is used by essentially all researchers … a critical resource for the genomics community. The NHGRI Human Genome Reference Program (HGRP) provides funding for efforts to maintain and improve the human genome reference resource. Recently it has become …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … Williams-Beuren syndrome added to Atlas of Human Malformation Syndromes in Diverse Population …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Thirty years ago, today, the Human Genome Project (HGP) officially launched. I was there … have been awarded one of the first center grants for the Human Genome Project by the then-named National Center for Human Genome Research. For that grant, I led a small research …
Research at NHGRI
The Technology Transfer Office is responsible for transferring NHGRI technologies to the private sector and exchanging research materials with outside groups.
… The Technology Transfer Office (TTO) at the National Human Genome Research Institute (NHGRI) builds bridges …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Dr. Peter McGuire in the MINI Section at NHGRI focuses on immune phenotyping of mitochondrial disease to better … SEM, Kalish H, et al. Comprehensive profiling of the human viral exposome in households containing an at-risk …
For Patients and Families
Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… by helping researchers expand their understanding of the human body, health, and disease. …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… Diseases). She started her own laboratory at the National Human Genome Research Institute at the end of 1997 and was … for understanding how hosts respond to pathogens and other immune challenges, such as vaccination. Studies of human genetic primary immunodeficiencies, as well as mutant …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health … M.D., and Paul Kruszka, M.D., co-created the Atlas of Human Malformation Syndromes in Diverse Populations with …