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Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many … sessions, courses, seminars, biochemical journal club and metabolic continuity clinic. The course Inborn Errors in …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome … disorders, we hope to better understand molecules and pathways that influence skeletal growth and metabolism in … bones … Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… that focused on understanding genome function and gene pathways in development and disease. As head of the Genomics, … after nearly 30 years of discovering gene functions and pathways … Dr. Pavan looks back on his career at NHGRI, …
News Release
The Genetics and Public Policy and Genetics and Education Fellowships provide a pathway for scientists to pursue careers in science policy or education.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… in the Organic Acid Research (OAR) Section of the Metabolic Medicine Branch in NHGRI. He earned a bachelor of … the Emmanuel Shapira Award from the Society for Inherited Metabolic Disorders in 2007, the Charles J. Epstein Trainee … RJ. Messenger RNA therapy as an option for treating metabolic disorders . Proc Natl Acad Sci U S A . 2019. An D, …
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 … pathophysiology and develop new therapies for genetic and metabolic disorders. During her training as a clinical and … metabolism, and the discovery of new genes in these pathways, including ACSF3 and HCFC1 . With support from an …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of … of these diseases and to catalog related genes, biological pathways and mechanisms related to each disease. Eventually, … as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… gain broad experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must … Genetic Disorders, Clinical Genetics, Molecular Genetics, Metabolic Diseases, Cytogenetics … Three-year residency …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The … adult and pediatric, including cytogenetic, molecular, and metabolic evaluations, and extensive exposure to … Etiologies, Prenatally Diagnosed Anomalies, Genetic And Metabolic Disease, Healthy Pregnancies, High-risk …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations  No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …