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Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
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, Holiday … variable selection method for identifying complex genetic models associated with human traits. (Statistical Genetics … GBA1 mutations and synucleinopathies with in vivo mouse models. (Psychiatric Genetics, Neurogenetics and …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… information in existing clinical data standards and models” as a short-term need for the clinical informatics …
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.
… including stem cell, organoid, zebrafish and mouse models to mimic aspects of the conditions in the laboratory. … caused by mitochondrial dysfunction and create mouse models to test novel small molecules to treat genetic …
News Release
Supporting early career investigators at the cutting edge of genomics.
… challenges relating to developing and breeding mouse models. Mouse models are essential for biomedical research, with about 70% … relating to mouse studies. Given the frequent use of mouse models around the globe, addressing these challenges may have …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… mission. Finally, studies of development biology, animal models, and basic molecular mechanisms are critical for …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
Staff
Dr. Elisabeth F. Heuston is a molecular biology and bioinformatics Staff Scientist with the Center for Research on Genomics and Global Health (CRGGH).
… Heuston used in vitro functional assays and in vivo rodent models to identify common genomic mechanisms across multiple … Mellitus (AADM) Study, and (2) generating in vivo animal models to connect genes identified in genome-wide association …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… funded by the MorPhiC program will use cell culture models such as organoids, which are miniature, three-dimensional models composed of multiple cell types that mimic the …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… working group in 2011. GRIPS placed an emphasis on models that included a smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since then, and are based on a …