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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 … 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 …
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 … Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI … working with patients, and with families with a history of inherited diseases, to learn more about the genetic …
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 …
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) …
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 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 …