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News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
Staff
Dr. Issel Anne Lim is the Deputy Director of the Division of Extramural Operations (DEO) within NHGRI’s Extramural Research Program (ERP).
… for neurodegenerative conditions. She earned her B.Sc. in Biology, with minors in biomedical engineering and … Volume in Schizophrenia Measured With 3D Inflow-Based Vascular-Space-Occupancy MRI at 7T . Schizophr Bull . 2017 …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… Network have made a number of new findings about the biology and development of a rare form of kidney cancer. … … families, through research into prevention and cancer biology, the development of new interventions, and the …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… families, through research into prevention and cancer biology, the development of new interventions, and the …
News Release
Four NHGRI researchers share the steps toward a career in genomics with 60 Brooklyn-area high school students.
… John Daniels … Keisha Findley's high school biology teacher made science fun and interesting, inspiring … Bishop , laboratory technician, Genetics and Molecular Biology Branch, NHGRI, who works on various research projects …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… mechanisms of disease and insights into normal cell biology, biochemistry and physiology. So far, UDP researchers … 2, 2011:  NIH researchers identify genetic cause of new vascular disease NIH/NHGRI News Release Feb. 2, 2011:  The …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in … program has spearheaded the discovery of a new disease of vascular calcification called arterial calcification due to … calcification-inhibiting pathway of adenosine signaling in vascular endothelial cells. The group has also shown that …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… open new avenues to the study and understanding of human biology. … GTEx investigators reported initial findings from … May 8 in the journals Bioinformatics , PLoS Computational Biology and Genome Research . This work was supported by the … families, through research into prevention and cancer biology, the development of new interventions, and the …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… between them. … APS usually shows up for the first time as vascular thrombosis (a blood clot in an artery or vein) or … as well. Conditions associated with APS include: Systemic Vascular Thrombosis While the deep veins of the legs are the …