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News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis. … of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… a more profound understanding of the biological basis of disease will pave the way for more effective ways to … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with … of clinical trials of a drug to combat mitochondrial disease, determine the safety and effecacy of drugs, and …
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 … project creates new educational materials for sickle cell disease community …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… The network's goals? Accelerate the diagnosis of rare or previously unrecognized diseases; improve clinical … Diseases Network: Accelerating Discovery about Health and Disease [cell.com], the online version of the American … Diseases Network: Accelerating Discovery about Health and Disease [cell.com] The Undiagnosed Diseases Network The …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… All times are in ET. Day 1: June 17, 2021 1:00 - 1:05 p.m. Welcome Howard Chang, … 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. …
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. …
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.
…  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, … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored 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 … an Accommodation Meeting Objectives Browse Agenda by Day: December 12 | December 13 All times are in ET. … Genomic Medicine XVI: Host Genomics and Infectious Disease …
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. … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… Last month, I had a busy four-day, three-city visit to India. In addition to meeting with … definitively associated with the most common form of the disease. The panel’s results were published in the journal …  Rare Disease Day is a worldwide observance that aims to raise …