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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 … Undiagnosed Diseases Network … Accelerating Diagnosis of Rare Diseases … Related Content … UDN guide to diagnosing …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's … recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …
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. … Cyndi Tifft opened a bag and … The tradition extended to the entire team on the day of the gene therapy trial. Photo Credit: Ernesto Del …
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 …
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. … This study is open to …
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 … 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. … Hybrid: … Ave … Genomic Medicine XVI: Host Genomics and Infectious Disease … On December 12-13, 2024, NHGRI and NIAID …
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.
… and Dr. Stephen Groft (then Director of the NIH Office of Rare Diseases, now part of the National Center for Advancing … cardiology, and genetics. Dr. Gahl, an expert on rare genetic diseases, served as the founding Director of the … to direct the program today. With the goal of improving disease management for individual patients and advancing …