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Clinical Research
Clinical and Basic Investigations of Methylmalonic Acidemia Study
This study evaluates patients with inherited metabolic disorders and related medical complications.
… skeletal muscle.  BMC Med Genet , 8:64. 2007. [ PubMed ] Adams D., Venditti C.P. (February 2008) Disorders of … An article published at Genereviews.org by David Adams, M.D., Ph.D. and study clinical director Charles P. …
Staff
Grisel J. Lopez, M.D.
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… in charge of the NINDS Parkinson disease clinic under Dr. Mark Hallett, Chief Human Motor Control Section. In 2009, she …
News Release
Bill Gahl receives HHS Career Achievement Award
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
Event
Current Topics in Genome Analysis
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
News Release
NIH initiative to systematically investigate and establish function of every human gene
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
Research Training
Clinical Center Genomics Opportunity
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… Biesecker  and  Teri Manolio , NHGRI (co-chairs) David Adams, Staff Clinician, NHGRI Ivona Aksentijevich, NHGRI, …
News Release
NIH supports approaches to discovering DNA differences in genome’s regulatory regions
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… $2.39 million, three years Principal Investigator: Mark Gerstein, Ph.D. Researchers will develop a computational …
News Release
NHGRI makes history of genomics special collections available to the public
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… leaders of NHGRI’s Extramural Research Program, including Mark Guyer, Ph.D., Jane Peterson, Ph.D., and Jeff Schloss, …
News Release
The Human Genome Project turns the big 3-0!
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
News Release
NIH researchers identify heritable brain connections linked to ADHD
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.