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The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… kidney transplants, which help restore normal levels of metabolic proteins. “Vast fluctuations in metabolic substances in the bodies of patients make it … and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. “Instead of looking at levels, we …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… miRNAs in peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services … protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital … inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders) *2271T. Oleg Schelochkov: A Zebrafish …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… Malicdan. “Rare diseases can help us understand biological pathways, so we can better understand how those pathways contribute to other rare and common conditions.” NIH … for this condition and others involving autophagy pathways. … About NHGRI and NIH … Additional Resources … NIH …
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… stored. Scientists use long RNA molecules to probe genomic pathways and develop new drugs, but they can be difficult to … ago, researchers are still uncovering new RNA-related pathways and RNA structures. Recent scientific advances have …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Health, a group that uses genomic tools to understand metabolic disorders such as obesity, diabetes, and … Research Program, which includes establishing the Metabolic Medicine Branch in 2021 and launching programs to …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… broad experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The … in several respects. It exposes residents to rare metabolic disorders that might not be seen in a more typical … spectrometry to enable diagnosis of a wide range of inborn metabolic disorders. Fellows in this laboratory program …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such … disease, mental disability, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and …