Search Results
Educational Resources
A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution.
… but has been mutated into an inactive form over the course of evolution. … Deoxyribonucleic Acid (DNA), Gene, Evolution, … from genes that have lost their protein-coding ability due to accumulated mutations that have occurred over the course …
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 …
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 …
Fact Sheet
El consentimiento informado es más que un formulario; es un proceso. ¿Qué implica?
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Click on the hyperlinked presentation titles to view their respective videos. All times are in ET. … Patrick Forny, M.D., Ph.D. 11:30 - 12:00 p.m. Role of Mitophagy in Methylmalonic Acidemia Alessandro Luciani, … M.D. 10:30 - 10:45 a.m. High-Dose B12 Therapy for cblC Deficiency Irini Manoli, M.D., Ph.D. 10:45 - 11:10 a.m. …
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 …
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 …
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 …
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, …
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 …