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News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … especially how their function or malfunction may affect a disease condition. Investigation of gene function is a … which researchers will develop a pipeline of models for disease-causing mutations in a broad range of human genes.  …
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.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover … Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated autoinflammatory disorders …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … as well as to understand human history and how it informs disease distribution and etiology. Through large genomic …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… methylmalonic acidemia (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal studies … labs, he led efforts to develop AAV gene therapy to treat Niemann-Pick Disease, Type C1 disease, a rare and lethal inherited …
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.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced … for exploring how the genome plays a role in human disease," said NHGRI Director Eric Green, M.D., Ph.D. "Our …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … contribute to increased risk or protect against the disease. The NIH awarded grants for using innovative new … into why some people with known risks do not develop the disease. …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope …