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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 …
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 … A, Keyvanfar K, Introne WJ , Brzostowski JA, et al. LYST deficiency impairs autophagic lysosome reformation in neurons …
File
… American College of Medical Genetics and Genomics Recent Activities of … Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med … 24385074 3 CORRIGENDUM for the Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med …
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.
… Teresa Carey, M.A. … 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 …
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 … of medical nutrition therapy in MMA and cobalamin C deficiency, which resulted in the re-evaluation of … about the safety of medical foods. Part 2: cobalamin C deficiency . Genet Med . 2016;19(4):396-404. Manoli I , Myles …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from the Johns Hopkins School of Medicine, Baltimore. He completed his post-doctoral fellowship in the laboratory of Shirley Tilghman, Ph.D., at Princeton University where he …
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 not function correctly, leading to a buildup of that byproduct. The macrophages malfunction in different …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in Normal and Biotinidase-deficient … with Larry Tabak, D.D.S., Ph.D., at the University of Rochester. Her first faculty position was at Eastman …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Tifft CJ. The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. Neurosci Lett. 2021 Nov … her B.A. in biology from Revelle College at the University of California at San Diego and her M.S. in genetic counseling … GM1 gangliosidosis is a rare disorder caused by the enzyme deficiency of lysosomal b-galactosidase. The researchers have …