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Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of … into improved diagnoses and therapeutics for human disorders. … Overview … Branch Staff … Translational and … the genetic, epigenetic and metagenomic basis of human disorders. ​ … The Translational and Functional Genomics …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine … conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All investigators direct … therapy and gene editing approaches to treat metabolic disorders, study immune manifestations caused by …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… the clinical relevance or validity of genes in genetic disorders for use in precision medicine and research. A … genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to … Research Genomics experts dispute nine genes linked to congenital heart condition Notable accomplishments in genomic …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… into the clinical care arena. We study an array of disorders - rare as well as common, simple as well as complex … ​ … Intramural Research Program, Treatment Of Genetic Disorders, Rare Diseases, Common Diseases, Dan Kastner … The …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… genetic and genomic strategies to understand inherited disorders of inflammation, often stimulated by patients with relatively rare disorders seen at the NIH Clinical Center hospital. This work … overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient innate branch of the …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… efficacy of gene therapy as a treatment for rare genetic disorders, such as methylmalonic acidemia (MMA), propionic … Shapira Award from the Society for Inherited Metabolic Disorders in 2007, the Charles J. Epstein Trainee Research … genome editing, and mRNA therapy, to cure rare genetic disorders. The primary focus of his research has been to …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …
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.
… Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and Observations; Hilton Baltimore Hotel, … 2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, … conduct of primary research into the etiology of metabolic disorders and to provide scientists access to these … better understand genetics, genomics and diagnosed genetic disorders. The resources on this site should not be used as a …