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Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the United … genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline genome …
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 …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. … Event …
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 …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute … decline from more common causes, genetic diseases and congenital birth defects disproportionately add to the public health burden. Genetic and congenital birth defects impose tremendous personal and …
Event
NHGRI will host a director's research seminar by Matt Hurles, Director of the Wellcome Trust Sanger Institute on October 30, 2023.
… Research Seminar, titled "Deciphering Developmental Disorders," by Matthew Hurles, FMedSci, FRS. Matthew Hurles … on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… these regions may also provide insight to other disorders related to nutritional stress, such as cancer. …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Health NIH Common Fund's Kids First WGS Data for Congenital Cranial Dysinnervation Disorders Available NIH Institutes Create Online Omics …
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.
… of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and Hypoxia meet … GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders P204 Primary Care Electronic Medical Record … Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern P555 …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.