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Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical medical … diseases in both inpatient and outpatient settings with disorders spanning the entire life span. The third year of …
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 … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …
Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… prevention and treatment of heritable and genetic disorders. In addition to the training and mentoring that the … Research, Training Programs, Biomedical Research, Genetic Disorders, Research Laboratories … The Summer Internship …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… management, and counseling of patients with genetic disorders. Combined residents gain broad experience in … Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school graduates to …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… and develop new therapies for genetic and metabolic disorders. During her training as a clinical and biochemical … regulatory as the cause for autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di … rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… and improved medical management strategies for genetic disorders. At the heart of the OCD mission is the challenge … new and better ways to help patients affected by genetic disorders. … To achieve its goals, the OCD focuses on the … The UDP has as its goal the diagnosis of patients whose disorders have long remained mysteries, and to advance …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Adult Endocrinology Alcohol Use Disorders Biomedical Informatics Cardiology Clinical … … Learning about the care of patients with rare or complex disorders enrolled in human subjects research protocols at … Learn about genomic sequencing and management of genetic disorders Participate in supervised clinical, laboratory, …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… important in the diagnosis and management of human genetic disorders. … To gain the requisite laboratory experience, … counseling exposure by seeing patients with genetic disorders across the lifespan in various NIH centers and in …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… she sees patients with a variety of genetic and metabolic disorders, providing care in both gynecology and genetics. In … syndrome, Methylmalonic Acidemia/Cobalamin disorders/Propionic Acidemia, Chediak-Higashi syndrome and … Brown LH, Merideth M , Owen CM, et al. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of …
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.
… of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and Hypoxia meet … GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders P204 Primary Care Electronic Medical Record … Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern P555 …