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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 … into Ciliopathies Neuropathy Genetics of Type 2 Diabetes in West Africans Oral Clefts Genetic Analysis of …
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. 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 . …
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 …
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 … by diffusion MRI morphometry . Brain Commun . 2020;2(1):fcaa014. Manoli I , Sysol JR, Epping MW, Li L, Wang C, …
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 … by genetic background. Pigment Cell Melanoma Res . 28(2):223-8. 2015. [ PubMed ] Fufa TD, Harris ML, Watkins-Chow …