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Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Autosome, Birth Defect, Gene, Inherited, Mutation, Protein, Recessive … genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease 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). …
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 …
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 … to study the genetics of monogenic autoinflammatory diseases. Dr. Aksentijevich is certified in clinical … of several genes underlying known autoinflammatory diseases as well as the discovery of multiple previously …
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
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 identify variants that affect complex diseases such as cancer and cardiovascular disease. The …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed … (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, …