Molecular Analysis of Patients With Neuromuscular Disease
The purpose of this study is to identify genes and proteins responsible for specific muscle disorders by studying genetic material from individuals with neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne and Becker muscular dystrophy DMD/BMD, limb-girdle muscle dystrophy LGMD. There are still many patients diagnosed with muscular dystrophy but have no causative gene implicated in their disease. We feel that these patients may have new genetic changes in genes coding for important muscle proteins that we have yet to identify. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
Limb-girdle Muscular Dystrophy
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members|
DNA from blood or saliva and muscle samples from proband/ DNA from blood or saliva from family members
|Study Start Date:||January 2002|
|Estimated Study Completion Date:||January 2015|
Our research has many goals, one of which is to characterize the genetic changes responsible for the type of muscle disease found in our participants. In our past research, several new genes responsible for various forms of neuromuscular disease were identified and/or are being studied. These include dystrophin, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsies has led to new insights into disease pathophysiology which we hope will aid in finding treatments.
Our research also studies gene expression in muscle biopsy samples. This entails identifying the genes whose expression is increased or decreased in the muscles of individuals with different muscular dystrophy types. We believe these studies will identify genes and gene pathways which are common to the pathogenesis of muscular dystrophy or which are unique to a particular dystrophy. Our microarray research should lead to a better understanding of the disease process and possible ways to halt the process. The end point of these studies would be an accurate description of the disease pathogenesis.
|Contact: Elicia A Estrella, M.S., C.G.C.||email@example.com|
|Contact: Elizabeth DeChene, M.S., C.G.C.||firstname.lastname@example.org|
|United States, Massachusetts|
|Children's Hospital Boston||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Elicia A Estrella, M.S., C.G.C. 617-919-4552 email@example.com|
|Contact: Liz DeChene, MS, CGC 617-919-2169 firstname.lastname@example.org|
|Principal Investigator: Louis M Kunkel, PhD|
|Principal Investigator:||Louis M Kunkel, PhD||Children's Hospital Boston/Harvard Medical School|