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News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… genomic condition measures disease severity and success of liver transplantation for patients. … Researchers at the National Institutes of Health have developed a breath test that measures how well … for the MMUT protein. People with this form of MMA have a deficiency in the MMUT protein, which plays a pivotal part in …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… working with patients and families to better understand of how genes can cause or influence diseases and develop new … and Genetic Studies on Holoprosencephaly Immunologic Deficiency Syndrome Genetic Analysis of Immune Disorders Immunologic Deficiency Syndrome Molecular and Clinical Studies of Primary …
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 …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… 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. …
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. 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 … Constantini S, Acosta MT , Kahn I. Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal … in human and murine succinic semialdehyde dehydrogenase deficiency . J Child Neurol . 2010 Dec;25(12):1457-61. doi: …
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 …
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 …
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 …
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 …