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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 …
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 …
News Release
Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.
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 …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… genome editing for correcting heritable traits and genetic disorders that impact diseases relevant to NIAID’s mission … technologies to diagnose and treat benign gynecologic disorders and fertility-related disorders. Use of polygenic risk scores in preimplantation …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… roles of variants in a number of medical conditions and disorders. In addition, their wide-ranging studies include … the underlying genetics of two common genetic disorders - familial hypercholesterolemia and familial … genomic variants are most likely to contribute to these disorders, and which should be discussed with patients, …
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
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… about the genomic architecture of a wide range of human disorders." CCDG researchers plan to examine a select group of disorders in order to develop approaches for using genome … the genomes of individuals with a wide range of rare disorders seen around the world. Together, the CCDG and CMG …
Staff
Mr. Ismail Safi is a program specialist in NHGRI's Division of Genome Sciences.
… and behavioral characteristics of neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease. Ismail … psychopharmacology, and the genetic basis of psychiatric disorders. Ismail received his B.A. in Chemistry from …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… to be associated with health conditions such as brain disorders, metabolic disorders, respiratory disorders, cardiovascular diseases and muscular disorders. …