duchenne Ireland - Collaboration

By: Duchenne Ireland  05/12/2011
Keywords: therapies

Duchenne Ireland announced today, the completion of the first stage of their Personalized Exon Skipping research project.

Skin biopsy samples were collected atthe Central Remedial Clinic in Dublin on July 8th 2011 and transported to the Newcastle BIO Bank in the UK where they await cell culture procedures before transport to Professor Steve Wilton’s laboratory in the University of Western Australia.

Speaking about the research project, Dr. Bryan Lynch Paediatric Neurologist at Temple Street Children's Hospital and the CRC said: "The goodwill and enthusiasm of all associated with this project is incalculable".

Thanks must be given to all of Duchenne Ireland’s supporters for their efforts with fundraising which has allowed Duchenne Ireland to fund this international project in its entirety. We would also like to thank the Duchenne Ireland research committee for the efforts to bring the project to its current stage.

Special thanks to the clinicians, nurses, patients and families who participated in the collection of the samples on the day and the great support families received during recruitment for the project. We acknowledge the pivotal role played by Professor Kay Ohlendiek and his team from NUI Maynooth who continue to liase between all participants in the project. Appreciation must also be shown for Professor Hanns Lochmüller and Professor Katie Bushby from Newcastle University for their collaboration on sample storage and cell culture at the Newcastle BioBank and final shipment to Professor Wilton's laboratory in Australia.

Finally, this project would not be in place at all if it was not for the dedicated work of Professor Steve Wilton and Professor Sue Fletcher from the University of Western Australia who have consistently progressed therapies for Duchenne boys over the past number of years since Exon Skipping showed initial therapeutic potential.


Pictured in the photograph at the CRC on the 8th of July were: (left to right): Dr. Bryan Lynch, Steve Carbery, Eoin O Rathaillaigh, SuzanneKeily, Margaret Goode, Therese Nestor, Aoife Carey.

Description of the research project onExon Skipping Therapy

This research project funded entirely by Duchenne Ireland's supporters is based onlocating the exon that is faulty in specific patient samples and willthen 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 different exons, many different types of anti-sense molecules have to be tested. This fact makes this research project very complex. Following the skin biopsy procedure, the tissue sample will be transferred to a container 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 cells will then be produced from patient tissue samples. Cells will be stored 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 the project, tissue samples will be destroyed or kept as a reference in the 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.

Keywords: therapies

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