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 …
Educational Resources
Step-by-step instructions and printable folding paper included in the downloadable document.
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. …
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 …
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: …
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.
Research Funding
The Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning health systems.