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Fact Sheet
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Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to enhance reverse phenotyping studies PB4459 Natalie … PB4499 Sarah Silverstein RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… The gold standard for a successful vaccine is the creation of long-lasting antibodies that will defend the body against … has found a promising new area for vaccine developers to explore in search of that gold. … Promising Area for … but there was no question about its significance. TCF1 deficiency causes "a severe defect" in the TFH cell response …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Benowitz … Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of … any region of the gastrointestinal tract from the mouth to the anus. The swelling and inflammation can go deeply into … and decreased appetite. The inflammatory process tends to be eccentric and segmental, often with skip areas (normal …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… focuses on translational research determining the effect of genetic variation on gene function and identifying primary … targets for potential therapeutic development. Prior to arriving at the National Institutes of Health, Dr. Erdos … of vascular smooth muscle cells (VSMCs) and stiffening of arterial walls. In the homozygous state the mouse presents …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… Venditti received a S.B. from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship … where he has initiated a translational research program to study the natural history and clinical phenotype(s) of the … can be seen in many common conditions, such as vitamin B12 deficiency, stroke syndromes, pancreatic dysfunction, …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the positional cloning … recessively-inherited disorder is now termed DIRA, the deficiency of the IL-1 receptor antagonist. More recently, …
Event
On March 1, 2018, over 65 basic research, clinical, and bioinformatic scientists in the genomics community convened for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC).
… for a four-hour web meeting on NHGRI-funded components of the Genome Reference Consortium (GRC). The GRC is an essential resource for the biomedical community and due to recent technological advances, NHGRI staff determined it …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types … in evaluating patients with elevated homocysteine due to cblE and cblG deficiencies. Some patients who have not …