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News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting …
Archive
… NIH Scientists Identify Gene for Fatal Childhood Disorder, Niemann-Pick Type C … Archive …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … skin and hair, as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science …
File
… Outline Genome Sequencing Program Centers for Common Disease Genomics Centers for Mendelian Genomics GSP Analysis … AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1 Extracellular Hsp60 triggers tissue …
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 …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease is …
Archive
… Undiagnosed Diseases Program (UDP) Discovers a New Disease … Archive …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While …
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 …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …