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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will … the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. … People with …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… The Laboratory Genetics and Genomics Fellowship Training Program is a two-year … biochemical genetics and molecular genetics. … Medical Genetics Fellowship Training Program, Laboratory …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening … treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship recipient at Penn State … residency at Massachusetts General Hospital/Harvard Medical School (1996-1999) and a combined clinical and … development of experimental systems to study the genetics, genomics and biochemistry of organic acid metabolism in model …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… the patient to collect information about family history and symptoms, House and his team gather to generate a list of … of the National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic … … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… work as members of health care teams providing information and support to individuals or families who have genetic … disorders or may be at risk for inherited conditions. … Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… … Laura Koehly, Ph.D., has been named chief of the Social and Behavioral Research Branch (SBRB) in the Intramural Research Program at the … possible in siloed labs. Our research focuses on bringing genomics into health clinics, which will potentially …
Administrative
The Financial Management Branch plans, directs and coordinates the financial management of the National Human Genome Research Institute.
… The Financial Management Branch (FMB) plans, directs and coordinates the financial … Research Institute (NHGRI). … The branch prepares, submits and defends the NHGRI budget to the National Institutes of …