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News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… recognized for his pioneering work on the genomics of autoinflammatory diseases. … Dr. Kastner will receive the prestigious Health … work led to the proposal of a new class of diseases termed autoinflammatory diseases , which occur when patients have …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were … (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … Protein Found to Play Instrumental Role in Two Hereditary Autoinflammatory Diseases ), suggests a new category of human …
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
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 …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. … The new system streamlines the application …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… and better understand pathways involved in human genetic diseases and normal development. Model systems, including … understanding genetic contributions to a number of human diseases, particularly those affecting the nervous, immune …
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. … the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.