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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
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.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … Diseases Network (UDN) was established by the NIH Common Fund. Growing out of the revolutionary work of the … 2018 NIH & NHGRI News NIH Approves Second Stage of ExRNA Common Fund Program All of Us Director Eric Dishman Clarifies …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
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).
… with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in … - MedlinePlus Achondroplasia - Genetics and Rare Diseases Information Center … What is achondroplasia? … What … … Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature. … …
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.
… Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … process. Other components of autophagy are involved in common neurological disorders, such as Alzheimer’s disease. … new avenues of research about ATG4D ’s involvement in more common conditions. “That’s the million-dollar question in …
Educational Resources
A fibroblast is the most common type of cell found in connective tissue.
… Fibroblast … A fibroblast is the most common type of cell found in connective tissue. … Cell … studies of that individual. … A fibroblast is the most common type of cell found in connective tissue. … Educational …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and its effects on … human history and health, disease susceptibility, and common principles of biology. … The NHGRI Intramural Program …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic … Institutes of Health. A TCGA analysis of another, less common, form of lung cancer, squamous cell carcinoma, was … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that also involved sores on the body, including the common canker sore. The study illustrates how long-standing … during flares.” While PFAPA syndrome has become the most common recurring fever syndrome in children from Western … symptoms between PFAPA syndrome and two other inflammatory diseases: Behçet’s disease, which causes inflammation of …