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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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.
… neuronopathic, which affects the nervous system (types 2 and 3) and non-neuronopathic (type 1). Type 1 GD: This is the most common presentation of GD in the …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… as the Clinical Director of the Neurofibromatosis type 1 (NF1) Program and as an associate professor at George … Baker E, Vézina G, Thurm A, Tifft CJ . GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study . medRxiv … GM1 gangliosidosis patients. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan …
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.
News Release
Scientists drafted the blueprint for how to build a common goldfish. Now they'll use it to find out what gives ornamental goldfish their nuanced features, gaining insight into human health.
… used a tool called a PacBio RS II sequencer to read the 2 billion chemical letters in goldfish DNA. For comparison, … II sequencer allowed the researchers to rapidly read the 2 billion chemical letters in goldfish DNA. Photo credit: …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… children's genomic risk for obesity were less subject to a type of nonconscious behavior called 'choice inertia,' or selecting the same type of food over and over again. This translated into …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… if the alterations might lie in a newly discovered type of enhancer called a super-enhancer (SE). Earlier work … for the function and identity of each individual cell type. In addition, a large number of disease-associated …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… infection. These TFH cells then interact with another type of white blood cell - called B cells - that actually … said, the body can overproduce one or the other type of T cell, with damaging results. Failure to develop TFH …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… production being functionally linked in the same cell type of a given organism, a finding that may shed new light … attractive for study is that they possess a specific type of interstitial cell (or i-cell ) that is pluripotent, … Ctenophore Mnemiopsis leidyi and its Implications for Cell Type Evolution. Science, 342:1242592. 2013. [ PubMed ] …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… to another part of the body), ECD should be considered a type of cancer and treated by oncologists, researchers wrote. …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.