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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 …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… and relationships of genes and regulatory elements in pathways and networks, which is one of the compelling genomic … and relationships of genes and regulatory elements in pathways and networks. MorPhiC Phase 1 will include three …
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.
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. "We can use this information today … Children with MMA suffer from frequent life-threatening metabolic crises when they encounter a minor viral illness or … team created a new mouse model and used it to discover key pathways that were affected during a fasting challenge to …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… In fact, researchers found that certain bacterial metabolic pathways were always present in healthy people, and that many … using the full panoply of existing genomic, proteomic, metabolic, transcriptomic and other molecular tests - …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… the best,   … Rare and common genetic determinants of metabolic individuality and their effects on human health … innate and foreign substances. In some cases, these metabolic changes can impact physical traits such as risk of …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… five senses. Blindness can be a symptom of a vitamin B12 metabolic disorder, explained Charles Venditti, M.D., Ph.D., … NHGRI's Zebrafish Core is a resource to identify genes or pathways that are similar across species, from zebrafish to …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… efforts to unearth clues about the complex genetic pathways involved in human diseases. These efforts have used … hereditary deafness, various neurological, developmental, metabolic, and immunological disorders, and others. These …