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- 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
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… networks navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease … disease community information about what participating in a gene therapy clinical trial entails,” said Kiana Amini, a …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… Prabarna Ganguly, Ph.D. … A new phase of the IGNITE Network will conduct clinical trials … whether medical intervention provided to those tested for the APOL1 variant immediately after recruitment versus …
Event
Webinar to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020.
… Additional Resources … Contacts … NHGRI will fund a new Human Genome Reference Program (HGRP) beginning in fiscal … high quality reference genomes, research and development for reference representations, informatic development, and …
Research at NHGRI
NHGRI researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.
… are creating foundational tools and methods to expand genomics research, ultimately leading to medical … are creating foundational tools and methods to expand genomics research, ultimately leading to medical … are creating foundational tools and methods to expand genomics research, ultimately leading to medical …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ganguly, Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published …
News Release
NHGRI has selected Robert Rivers, Ph.D., as the new director of the Office of Training, Diversity, and Health Equity (TiDHE). In this role, Dr. Rivers will provide strategic and programmatic leadership to extramural workforce development programs to prepare individuals for a genomics careers.
… Rivers to lead extramural training programs to create a more diverse genomics workforce. … The National Human … of Health (NIH), has selected Robert Rivers, Ph.D., as the new director of the institute’s Training, Diversity and … to workforce development programs that prepare individuals for genomics careers and NHGRI’s health equity and health …
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.
… launched. I was there on the starting line, then a postdoctoral research fellow in the laboratory of genomics … to have been awarded one of the first center grants for the Human Genome Project by the then-named National … Genome Project’s launch will culminate with publishing the new 2020 NHGRI Strategic Vision. I urge you to monitor …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… Heart, Lung, and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, … of as many Mendelian conditions as possible. … It's a huge challenge: There are an estimated 7,300 such … In studying nearly 9,000 families, they have uncovered 470 new, previously unknown conditions and learned important …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… and symptoms, House and his team gather to generate a list of all possible causes and, through blood work and … or another is the most appropriate test. But this new way of practicing is not without its challenges. With … Alabama at Birmingham (UAB) and the HudsonAlpha Institute for Biotechnology; The University of Utah in Salt Lake City; …