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News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix … from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural Research …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the …
Fact Sheet
Learn about the different types of hemoglobin.
… To understand sickle cell disease and gene therapy , you should first know about blood … Hemoglobin types and sickle cell disease  Your red blood cells contain hemoglobin , a protein … therapies are designed to treat or relieve the symptoms of sickle cell disease by targeting your blood stem cells. …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Although a role for genetics in the development of the disease has been supported, it is unclear whether this … the unique metabolic disturbances of kwashiorkor.   Sickle Cell Disease Alloimmunization  Sickle cell disease (SCD) is … Complex. After returning to Jamaica to study sickle cell disease and severe childhood malnutrition as a …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … methods to study several pediatric diseases, including sickle cell disease, severe childhood malnutrition, pediatric HIV in … Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB. …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). OXPHOS occurs in microscopic factories in the cell called mitochondria and extracts energy from food and … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic … systems, including genetically altered mice and in vitro cell and organ culture systems, are major components of these …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were researchers from the … otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint …