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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane … disease, Joubert disease and other ciliopathies, and Erdheim-Chester disease. In aggregate, more than 500 patients with …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease are now available from researchers at the National …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. … This study is open to …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, NHGRI and NIAID will sponsor the … Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD. … On December 12-13, NHGRI and NIAID …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … from 1 in 3,000 to 1 in 6,000 children. Because the disease results in multiple defects throughout the body, …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to disease treatment. In September, …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … With Multi-omics Data to Provide Insights Into Prodromal Disease and Prevention Nathan Price, Onegevity and Institute …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …