Search Results
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… investigators answer critical questions in biology and medicine by applying tools ranging from high-throughput … Health Research, formerly the Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated … and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, … to learn more about the genetic causes of these inherited metabolic disorders and the medical complications associated …
Event
On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems. Â
… and Introductions   Overview of National Academy of Medicine's 2015 Workshop, Genomics-Enabled Learning Health … Deverka  Structure, Goals and Products of NHGRI Genomic Medicine Meetings Teri Manolio 11:15 a.m. Session 1: Laying …  Population-Based Clinical Decision Support for Precision Medicine (15 min) Guilherme Del Fiol  Discussion (45 min) …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. After completing Internal Medicine … continues to maintain a busy lab in the Medical Genetics Branch. Throughout his career at the NIH Dan’s research has … … Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… aimed at providing healthcare professionals with genomic medicine training. Listed below are the details of the … Rapid Personalized Learning Platform for Genomic Medicine Lead Investigator for Project:  Geoff Ginsburg, … ‘Rapid Personalized Learning Platform for Genomic Medicine’ to promote health providers’ knowledge about …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… the National University of Asunción, completed an Internal Medicine residency at Rush University Medical Center in … Lausanne, Switzerland, and in the  Society for Inherited Metabolic Disorders North American Metabolic Academy (SIMD … clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit. … Dr. …
Events
NHGRI sponsored the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting in Bethesda, Md, on August 30, 2016.
… sponsored the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting at the John Edward Porter … opportunities and goals that would fill gaps in genomic medicine implementation, and identify optimal topics and study designs for future genomic medicine implementation program(s). … John Edward Porter …
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 …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… research in advanced technologies (AT) to support Genomic Medicine Co-Moderators: Carol J. Bult, Ph.D. and James J. … of lost variants: How EHR integration can improve genetic medicine Presenter: Lisa A. Bastarache, M.S.  … - 1:25 p.m.  Advancing health IT to support genomic medicine and research Presenter: Teresa Zayas Cabán, Ph.D.  …