Search Results
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… focuses on translational research determining the effect of genetic variation on gene function and identifying primary … development. Prior to arriving at the National Institutes of Health, Dr. Erdos studied circulating thymic peptides … the impact and functional basis of risk variants for type 2 diabetes (T2D). That information can both provide …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… in NHGRI. She completed her M.D. from the University of New Mexico; pediatric residency from Children’s National … from the NIH. Dr. Introne then worked in the Division of Pediatric Genetics at Strong Memorial Hospital in … to NIH as a Staff Clinician in 2004, in the Office of the Clinical Director. In 2019, she moved to the Section …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… from Amherst College, where she now serves on the board of trustees. She received her Ph.D. from the Massachusetts Institute of Technology in the laboratory of Eric Lander, Ph.D., and the newly formed genome center. … Genomics Section (MGS) explores the full genetic diversity of human-associated microbiota (bacteria, fungi, viruses) …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… Dr. David Bodine, Ph.D. is Chief of the Genetics and Molecular Biology Branch and Head of the Hematopoiesis Section at the National Human Genome Research Institute (NHGRI). NHGRI is one of the 27 Institutes and Centers making up the National … Hematopoiesis is the process of generating all of the different types of blood cells …
File
… American College of Medical Genetics and Genomics Recent Activities of … of new research discoveries into medical practice; 2) to provide medical genetics and genomics e ducation to … Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… at Children's National Hospital, as the Clinical Director of the Neurofibromatosis type 1 (NF1) Program and as an … she worked during the same period as a medical director of the “Genetic Analysis of Attention Deficit Hyperactivity Disorder” (00-HG-0058) …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her medical degree, a Masters and PhD from the University of Athens in Greece; she completed her pediatric residency at … Clinician Associate Investigator in 2016. She is a member of the faculty of the Metropolitan Washington D.C. Medical …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In patients with GD, this enzyme does … neuronopathic, which affects the nervous system (types 2 and 3) and non-neuronopathic (type 1). Type 1 GD: This is …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she … Research. When Sidransky came to the National Institutes of Health in the late 1980s, she wanted to learn molecular … General Hospital. She was looking at diseases of the brain. "I'm doing an autopsy on a patient with …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment approved by the FDA . … has led to substantial advances in discovering the causes of rare disorders. Many families have gone through years of …