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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… could be widely available to treat people with these diseases. However, there's a long distance between … understand the connection between Gaucher and Parkinson's diseases, NHGRI researchers used a labor-intensive technology … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … of genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… about the genetic causes of the various types of these inherited metabolic disorders and the medical complications … disorders to learn more about the genetic causes of these inherited metabolic disorders and the medical complications … about the genetic causes of the various types of these inherited metabolic disorders and the medical complications …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to solve the most … might be: (1) The Metabolic and Molecular Bases of Inherited Disease (a four volume textbook that is on line). …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … p55 tumor necrosis factor receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF … pustulosis and multifocal osteomyelitis. This recessively-inherited disorder is now termed DIRA, the deficiency of the …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 … Novel Changes … …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that … large effects on an individual's risk for developing rare diseases. These same approaches might help researchers … … Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle … and weakness. … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle … leading cause of neuromuscular disease. It is usually inherited as an autosomal recessive trait (a person must get …