Search Results
Administrative
The Intramural Administrative Management Branch provides administrative management support to the NHGRI Division of Intramural Research.
… The Intramural Administrative Management Branch (IAMB) provides administrative management support to … inventory, human resources, workforce planning, and other related areas. In order to provide these services … the IAMB works in partnership with senior administrators and the National Institutes of Health scientific community in …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell … lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning. There … and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 …
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI. She completed her medical degree … Dr. Lopez’ research interest focuses on the genetics of neurodegenerative disorders, specifically synucleinopathies, such as Parkinson disease and Dementia with Lewy bodies. During the past decade, her …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners, pharmacists, and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers, and other organizations.
… to learn about grants management, collaboration and leadership. An immersive experience in various settings, … portfolio and program management at the forefront of genomics. The keystone of this program is sage mentorship … position: Visiting Assistant Professor, Department of Medical and Molecular Genetics, Indiana University School of …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with the National Human Genome … As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome Research … in Missouri in 2003; completed internal medicine and pediatrics residency and a sub specialization in both … Dr. Ombrello has played a significant role in the discovery and characterization of six new autoinflammatory diseases as …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic … to clinical application by identifying the potential medical effects of rare genomic variants (inherited …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… have made a number of new findings about the biology and development of a rare form of kidney cancer. … genetic rearrangements near a gene important in DNA repair and in maintaining telomerase, the enzyme which determines a … National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 institutes and centers …
Administrative
The Management Analysis and Workforce Development Branch provides advisory services, develops policies and procedures, and coordinates implementation at NHGRI.
… The Management Analysis and Workforce Development Branch (MAWDB) provides management advisory services, develops management and administrative policies and procedures, and coordinates … Human Resources. Committed to exceptional customer service and professional excellence, MAWDB supports the mission of …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… that requires a tetanus shot. But when those bad days, and the emotions they provoke, precede a visit to the doctor, … patients who received information about the role of genomics in being overweight viewed the information as threatening and were less likely to take steps to improve their health …