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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.
… mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Issue 4, 198-208, December 2017. … A Puzzling Link Between Diseases … Related Content … Mouse model for rare genetic …
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.
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). …
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 …
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 …