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- Genome Technology Program2
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… The Metabolism, Infection and Immunity (MINI) Section at the National Institutes of Health (NIH) aims to define the relationship between infection, … Investigator … Metabolism, Infection and Immunity (MINI) Study: A Longitudinal Natural History Study of Children with …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… for hotel expenses. Do I have to travel to the NIH to participate? Traveling to the NIH Clinical Center is the most efficient way to be evaluated … and provides us with the most useful information for our study. Most hospitals do not have the same MRI capabilities. …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in … team at 301-451-3997 or email us at SCDlegulcerstudy@mail.nih.gov . … Are you living with sickle cell disease (SCD)? … Study Phone: (301) 451-3997 Email: SCDlegulcerstudy@mail.nih.gov Principal Investigator Vence L. Bonham, J.D. Phone: …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… The CLINSEQ® Study seeks to learn about the role that your genes play in … spend 4 to 5 hours at the National Institutes of Health (NIH) in Bethesda, Md. for your initial visit. The main pieces … staff, call 301-443-6160 or e-mail us at CLINSEQ@mail.nih.gov … In order to prepare for your visit, we will send …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders … years of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days … Patients will be excluded if they cannot travel to the NIH because of their medical condition or are less than 2 …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… Ph.D. … New grants from the National Institutes of Health (NIH) will fund researchers to develop computational … researchers typically conduct a genome-wide association study (GWAS), which compares the genomes of thousands of … cancer and heart disease. NHGRI and NCI are both part of NIH. … Identifying Genomic Variants … Related Content … NIH …
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.
… In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease … Mutations in Parkinson’s Disease ”, where the study demonstrated that mutations in the GBA1 gene give … Cost of hotel and associated travel to and from the NIH is covered, as allowed per NIH policies. Ongoing, NOT …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development Program to … immune system. His NIH Clinical Center protocols, the NIH MINI Study , is the first organized effort to study immune …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Association Studies (GWAS) … A genome-wide association study (GWAS) is an approach used in genetics research to … Medicine, Gene Variant … A genome-wide association study (abbreviated GWAS) is a research approach used to … to the disease or trait. … A genome-wide association study (GWAS) is an approach used in genetics research to …