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The Genomics Landscape
In the June 2024 issue of The Genomics Landscape, NHGRI Director Eric Green recognizes the 2023 recipients of the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce.
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… a fellowship training at NINDS/NIH in Epilepsy and animal models through 2005. Since 2005-2018, she worked as an … and non-pharmacological interventions in animal models and NF1 patients using interspecies comparisons of … A, Gibson KM, Theodore WH. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency . J …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther …
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.