Search Results
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.
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… the use of wearable technology. Artificial intelligence models could predict and adjust a patient’s health trajectory …
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 …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… Platform Interoperability Effort (NCPI) , ontologies, data models and standards. … Genomics Research Researchers …