Research

The following are a list and brief synopsis of the various Research Projects which the GM Trust has been or are currently funding:

PROJECT 1 (UK & Australia)
Exon Skipping for duplication mutations of the dystrophin gene (UK & Australia)
Under the leadership of Drs. Nic Wells, Steve Wilton, and Francesco Muntoni this team of world experts in exon skipping is working on establishing whether large duplications of the dystrophin gene (similar to the one of Gavriel) can be skipped similarly to what has been shown and is currently in clinical trials for deletion mutations. If indeed possible, exon skipping would create a situation where muscle cells would produce some level of dystrophin protein, which would be able to ameliorate the severity of the disease.

PROJECT 2 (UK)
Identifying a small molecule to upregulate utrophin expression in skeletal muscle
Previous evidence suggest that upregulation of utrophin can compensate for the loss of dystrophin, which makes this protein an excellent candidate for therapy. This project is headed by Vastox/Summit and has revealed two promising candidates, which have been tested in animal models of muscular dystrophy. These compounds are being tested for toxicity and efficacy in mice clinical trials are suspected to start soon.

PROJECT 3 (USA)
CombinatoRx: Identifying drug combinations for the treatment of muscular dystrophy
The general goal of this project is to perform high-throughput screening of already existing and FDA-approved drugs, which in combination may lead to modifications of various targets, which have been shown to be promising in the treatment of muscular dystrophy. Specifically, this project is analyzing compounds that decrease an inflammatory parameter called NFkappaB; that causes an upregulation of alpha7 integrin (a membrane stabilizing protein) and is trying to identify a combination of drugs to antagonize myostatin, which has been shown to increase muscle size.

PROJECT 4 (Brazil)
Ringo: A golden retriever with dystrophin-negative muscular dystrophy and an exceptionally mild phenotype
Under the leadership of Dr. Mayana Zatz, a team of researchers has recently identified a dog within their colony of golden retrievers, muscular dystrophy that has a phenotype much milder than all of the other dogs in the colony. This is somewhat similar to the clinical situation of Gavriel. This project is currently trying to characterize the underlying molecular mechanisms responsible for this rather mild case of muscular dystrophy. The overall aim of this study is to potentially identify molecular pathways, which can be targeted to ameliorate disease progression in patients with Duchenne muscular dystrophy.