Search Results
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
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 … , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Lindsey Criswell, … investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Staff …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
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, …
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.
… understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … and are considering exploring other disorders, including inflammatory/autoimmune and bone/skeletal diseases, and …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to … Muckle-Wells Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 … Genome sequencing for patients from the NIH Undiagnosed Diseases Program (UDP) has identified individual variation in … potential treatments for patients with these rare or new diseases. Recipients of the new NIH awards to study gene …