Search Results
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 …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… learn about: Phases of a clinical trial. Study outcome(s). How researchers will know if the treatment worked.  … … be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … across all the trials. This can be a long process and it’s important to understand what happens at each …
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 … Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have … Institute for Pediatric Surgical Innovation at Children's National Health System in Washington, D.C., developed the …
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.
… human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 linear feet. As … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 p.m. Purpose … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … (Progression/Prevention) Tes Mersha, Cincinnati Children’s Hospital Guided Discussion - Application of Multi-omics to …
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.
… 2020' calendar . All the best, … A summary of NHGRI's first strategic planning Town Hall, held via videocast in … CA on July 17, 2018. … The Genome: Unlocking Life's Code  exhibition is currently touring North America. … to direct the program today. With the goal of improving disease management for individual patients and advancing …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… said Dr. James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … in the National Human Genome Research Institute's Division of Genomic Medicine. Five new clinical sites will … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … findings in npj Genomic Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and …