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- Ethical, Legal and Social Implications (ELSI) Research Program5
- 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 Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… the structure and function of gene products leading to human disease. … A major focus of the branch's research lies … investigators use genetics and genomic approaches in both human and mouse systems to identify and better understand pathways involved in human genetic diseases and normal development. Model systems, including …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute (NHGRI), part of NIH, today …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… conducted at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. … From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… C, Boehm M. Stat3-dependent acute Rantes production in vascular smooth muscle cells modulates inflammation following … Office of the Clinical Director at NHGRI. … Manfred Boehm, human vascular diseases, precision medicine, human induced pluripotent stem …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… live in all parts of your body and make up the diverse human microbiome. These microbiomes support and maintain your … such as cancers, and autoimmune and cardiovascular diseases. Hence it is not surprising that the human microbiome is an important avenue of health research. …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their … disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … Crohn's Disease in Children and Teens Genetics and Rare Diseases Information Center Finding Reliable Health …