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News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… these new grants, researchers will study gene networks and pathways in different systems in the body, such as skin, … In the program, researchers aim to study gene networks and pathways in different systems of the body, such as skin, … how glucocorticoids control both anti-inflammatory and metabolic responses. University of Massachusetts Medical …
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.
… defects in the propionyl-CoA and vitamin B12 (cobalamin) metabolic pathways. This meeting will bring together researchers, … pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the opportunities and …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of … of these diseases and to catalog related genes, biological pathways and mechanisms related to each disease. Eventually, … as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a program … clinical and molecular geneticist, Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq … ASHG …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or … Organic Acid Research Section, 61 patients enrolled from metabolic treatment centers across the United States and … Harvey S. Mudd, M.D., a physician and NIH researcher in metabolic disorders, was also instrumental in this work. MMA …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… and have also uncovered new details about an important metabolic pathway that plays a major role in several common …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… a good model for humans. We found that many processes and pathways are conserved from mouse to human. This allows us to … investigators found that for the mouse immune system, metabolic processes and stress response, the activity of some …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations  No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… form of bladder cancer, including important genes and pathways that are disrupted in the disease. They also …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.