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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.
… non-coding sequence variation associated with pediatric leukemia. We plan to dissect non-coding regulatory elements … genes and describe their function in hematopoiesis and leukemia. Tychele Turner, Washington University in St. Louis …
Staff
Dr. Jennifer Troyer is the director of NHGRI's Division of Extramural Operations.
… Johnson WE, O'Brien SJ. Genetic characterization of feline leukemia virus from Florida panthers. Emerg Infect Dis, …
MINC
Assessing your own work environment is a starting point for deciding who will be involved, what is needed, and establishing a plan of action.
…  Types of patients seen and interventions provided (i.e., acute, surgical, medical)  Diversity of your service area  …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… bone marrow failure, and a predisposition to myeloid, head and neck and other malignancies. Because FA is …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… levels can be the result of multiple reasons including acute muscle injury, or chronic condition such as Duchenne …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… infection with antibiotics or has evidence of an acute infection; and any patient who does not have a …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… autoinflammation. She and her team discovered a postnatal myeloid-restricted somatic mutation in NLRP3 in a patient …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… Foundation Eukaryotic Genetics Panel and has served on the Leukemia and Lymphoma Society (LLS) Career Development Award …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… involving tyrosine kinases as a special fellow of the Leukemia and Lymphoma Society (in collaboration with Michael …