Duchenne Ireland has announced today, that their Exon Skipping funded research project in association with NUI Maynooth and Temple Street Children's Hospital has passed ethics and skin sample collection is scheduled to take place on June 8th.
Description of the research projecton Exon Skipping Therapy
This research project is based on locating the exon that is faulty in specific patient samples and will then screen for the genetic drug which is most likely to block the defective process in this dystrophic sample. Since the human DMD gene contains 79 differentexons, many different types of anti-sense molecules have to betested. This fact makes this research project very complex. Following the skin biopsy procedure, the tissue sample will be transferred to acontainer with a biological liquid rich in nutrients. The potential contamination of the tissue sample with infectious agents, such as bacteria, will be prevented and controlled with antibiotics. This is important for the subsequent step of cell culturing. Individual cellswill then be produced from patient tissue samples. Cells will bestored in a BioBank Facility and samples shipped to the laboratory of Prof. Steve Wilton for genetic analysis. Cell samples will be exclusively used for this exon skipping project. At the end of theproject, tissue samples will be destroyed or kept as a reference inthe BioBank Facility if this is the wish of the participating patient. Tissue samples will be transferred anonymously and only suitable medical information, that might be helpful for the genetic study, will be supplied to the research laboratory.
If your son(s) with Duchenne are interested in taking part in this research project, please contact Dr. Bryan Lynch (Principal Clinician), Neurology Department, Temple Street Children's Hospital (01-878 4200) for further information on eligibility and schedule and location. Please Note: For logistic and other reasons this project is limited to Irish patients.
Duchenne Ireland Research Committee