Genetic, protein and transcription profiles of Neuromuscular Disorders
Research type
Research Study
Full title
Identification of genes, proteins and transcripts associated with Neuromuscular diseases.
IRAS ID
141166
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
GOSH/ UCL ICH Joint R&D Office
Research summary
Childhood neuromuscular diseases (NMD) are rare and genetically heterogeneous conditions characterized by early onset weakness and disability. Examples of childhood NMD are congenital muscular dystrophies (CMD) and myopathies (CMY), for which the level of heterogeneity has exceeded our even most recent estimate, with at least 12 genes responsible for CMY and 18 genes for CMD. However, at least 50% of the patients do not carry mutations in any of these genes. Due to the unknown genetic diagnosis, a significant number of affected individuals and families are unable to take advantage of genetic counselling or anticipatory care. There are a number of therapeutic developments in cellular or animal models, but this progress is not applicable to families without a final diagnosis. \nWe intend to study DNA samples from patients without a final diagnosis in order to identify the genetic defect associated with the NMD. We will also study the transcript and protein profile in NMD patients with and without a known diagnosis, in patients with other neuromuscular disorders and normal controls to identify either primarily or secondarily altered transcripts and proteins that could also serve as biomarkers. New therapeutic approaches correcting the genetic defect or the altered pathway will be tested on cell cultures.\nWe aim to use materials (muscle, DNA, RNA, peripheral blood mononuclear cells, serum, plasma, urine, skin, cell cultures) from patients with NMD and normal controls. All tissue samples have been obtained for diagnostic, surgical, research or routine blood sampling purposes, or from normal (control) volunteers, and are stored in our research biobank. For samples collected after 01/09/2006, a specific biobank consent form, describing the possibility of using the stored samples for research purposes for neuromuscular disorders will be obtained from each patient, but some patients have been consented using a generic research consent form.
REC name
East of England - Cambridgeshire and Hertfordshire Research Ethics Committee
REC reference
13/EE/0398
Date of REC Opinion
10 Dec 2013
REC opinion
Further Information Favourable Opinion