Search Results
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.
… Development and testing of innovative predictive models of the impact of genomic variation on genome function … catalog of variant impacts and including data, tools, and models that will be shared with the broader research … November 5, 2020 RFA-HG-20-047 : Developing Predictive Models of the Impact of Genomic Variation on Function (U01 …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… also applying trans- and local-ancestry admixture mapping models to other cohorts of alloimmunization in sickle cell … between individuals and formulate plausible genetic models of disease. We then work with global and national …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency. BMC Genomics , 11(1): 194. …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided promising data and … enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a treatment effect of oral … Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: …
Educational Resources
Step-by-step instructions and printable folding paper included in the downloadable document.
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… to lymphoma. Through the generation of mouse models and the study of patient cells, the Schwartzberg group …
File
… Brain Development Gestational Age Integrated Human-Murine Systems Biology Approach AF & Amniocytes (Slonim et … Signaling Pathways E15.5 brain Ts1Cje, Ts65Dn, Dp16Mouse models of DS Mouse Embryos Approach to Preclinical Treatment …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… information in existing clinical data standards and models” as a short-term need for the clinical informatics … for health; intensive care unit data to build predictive models for adverse health events; spatiotemporal architecture …