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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 …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
… at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced … at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… provide diagnosis and treatment for patients with unknown disorders. In 2012, building on the early successes of the … UDN beyond 2023. The National Institute of Neurological Disorders and Stroke (NINDS) is overseeing the Network in … UDN is now led by The National Institute of Neurological Disorders and Stroke (NINDS). … Undiagnosed Diseases Network …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… of genomic variation in human developmental disorders HG011996 Hyejung Won Michael Love Karen Mohlke … gene regulatory codes across various conditions and brain disorders. Hongbo Liu, University of Rochester The Liu lab … of genomic variation identified in neurodevelopmental disorders for which we have funding from an R01 grant awarded …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… (NICHD), the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… DNA Sequencing as a Primary Newborn Screen for Treatable Disorders Not Amenable to Current Screening **Catherine …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… medical management strategies for patients with genetic disorders. NHGRI is part of the National Institutes of … disease gene discovery, analysis of genetically complex disorders, development of animal models to elucidate disease … far-ranging scientific questions involving an array of disorders in which genetics plays, or is thought to play, a …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… research that will advance understanding of specific disorders identifiable via newborn screening through … of one or more of the following research questions: For disorders currently screened for in newborns, how can genomic …
Fact Sheet
Understanding gene therapy for sickle cell disease
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.