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News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … … Sequencing all 24 human chromosomes uncovers rare disorders … Extending noninvasive prenatal screening to all …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and research. … Resources … Genomics experts dispute nine genes linked to congenital heart condition … An expert panel from the …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve … funds new effort to discover genetic causes of single-gene disorders … NIH will award nearly $80 million to support the …
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 …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Sciences and National Institute of Neurological Disorders and Stroke. For more information about the UDN …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… and personalized medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid … regulation, genomic switches in blood cells, autoimmune disorders, John O'shea M.D., Golnaz Vahedi Ph.D., genetics of …
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 …