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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … between Gaucher disease and parkinsonism: Insights from a rare disease. Neuron 93:137-46,2017. PMID: 28231462 Borger …
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
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized by dramatic, …
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 …
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 … 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, NHGRI and NIAID will sponsor the …