Dystrophin Restoration
In an ideal world, we could restore proteins that are missing or mutated in genetic diseases. Our current world does not allow such cures; however, emerging technologies in gene and cell therapy are making headway. This page focuses on diseases related to the protein dystrophin (i.e., dystrophinopothies) to surface cutting-edge research and clinical trials.
Below is a quick background on dystrophin and the DMD gene that encodes it. Next is a tool that will help you explore relationships between the DMD gene, transcribed protein, and its function/interactions. You can update the DMD gene with mutations, deletions, or insertions to see how the protein and function are impacted. Finally, there is a list of current research and clinical trials filtered by the modified DMD.
Background
Dystrophin is a protein necessary for normal life. It is encoded by the DMD gene (named after the abbreviation for Duchenne Muscular Dystrophy). Genetic modifications to the DMD gene lead to Duchenne and Becker Muscular Dystrophy. Our dystrophin tool explores the consequences of gene mutations to the expressed protein structure and function.
There are several approaches to restore dystrophin (gene therapies, exon skipping, etc.). The dystrophin tool will present current research and clinical trials for specific mutations to help reduce the noise. It will also present exclusion criteria that may make other therapies out of scope for that mutation at this time.
Our Dystrophin Tool
The dystrophin tool explores the consequences of a genetic mutation to the expressed protein structure and function. The tool is initially loaded with the full DMD gene. You can toggle to a model of the dystrophin protein expressed by the gene. The last tab shows the relationships between dytrophin and other proteins to maintain the muscle fiber structure.
Beyond the full length dystrophin, you can modify the gene with deletaions, mutations. or insertions. The tool will display the transcribed mRNA and the translated protein. The protein structure is displayed in a cartoon format.
Research Summary
There are several approaches to restore dystrophin (gene therapies, exon skipping, etc.). The dystrophin tool will present current research and clinical trials for specific mutations to help reduce the noise. It will also present exclusion criteria that may make other therapies out of scope for that mutation at this time.
Clinical Trials
There are several approaches to restore dystrophin (gene therapies, exon skipping, etc.). The dystrophin tool will present current research and clinical trials for specific mutations to help reduce the noise. It will also present exclusion criteria that may make other therapies out of scope for that mutation at this time.
The data populating this page and the method for summarizing that data is discussed in the About section. Please contact us if you notice any errors are want clarication on what is presented here.