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News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Parkinson's disease, which is characterized by tremors, muscular rigidity and slowed movements. Patients with …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… sequences, focusing on 59 genes underlying cardiovascular, muscular and neuronal functions that are under strong …
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.
… Arthritis, Pyoderma Gangrenosum and Acne (PAPA) Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… disease, a common disorder characterized by tremors, muscular rigidity and slowed movements. ] To better …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… a new path of exploration for therapies for CFZS and other muscular diseases and tools for regenerating muscle. "In …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… option for several disorders, such as melanoma and spinal muscular atrophy. Before a new gene therapy treatment is …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… (ALS, also known as Lou Gehrig's disease), spinal muscular atrophy and Huntington's disease. Total funding for …
File
… the recipients of the adaptive bicycles will be from the Muscular Dystrophy AssociationÕs St. Petersburg/Tampa Chapter and the …