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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 …
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 … the impact and functional basis of risk variants for type 2 diabetes (T2D). That information can both provide … Broad Institute has developed the CRISPR-mediated Adenine-deaminase DNA Base Editor (ABE) packaged in adeno-associated …
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 … into Ciliopathies Neuropathy Genetics of Type 2 Diabetes in West Africans Oral Clefts Genetic Analysis of …
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 … A, Keyvanfar K, Introne WJ , Brzostowski JA, et al. LYST deficiency impairs autophagic lysosome reformation in neurons … number and size . Cell. Mol. Life Sci . 2023 Jan 28;80(2):53. doi: 10.1007/s00018-023-04695-x. Introne WJ . …
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 … pan-genome is quite large with 80% core genes (~2,000 total) and the remaining 20% of genes selected from a …
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 … stem cells contain high levels of mRNA for c-kit, GATA-2, p45NF-E2 and c-myb, and low levels or no mRNA for c-fms …
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 … GM1 gangliosidosis patients. Mol Genet Metab. 2023 Feb;138(2):107508. doi: 10.1016/j.ymgme.2023.107508. Epub 2023 Jan … Constantini S, Acosta MT , Kahn I. Autism-associated Nf1 deficiency disrupts corticocortical and corticostriatal …
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. 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 … by diffusion MRI morphometry . Brain Commun . 2020;2(1):fcaa014. Manoli I , Sysol JR, Epping MW, Li L, Wang C, …
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 …