Support for the therapy of a rare genetic defect
POLIFILM America donates 250 k US $
POLIFILM is donating US$ 250,000 to a research group of the non-profit academic health organisation Cedars-Sinai, which is looking for a treatment for the so far untreatable Allan-Herndon-Dudley Syndrome, in short AHDS.
AHDS is an extremely rare gene mutation in MCT8, which functions to transport thyroid hormones into brain cells through the blood-brain barrier. In AHDS, this mechanism is usually disrupted from birth. The result is reduced brain development, which leads to significant cognitive and physical disorders. Located on the sex chromosome, MCT8 gene defects affect around 320 males so far recorded in the literature. An extremely rare disease, but one that has far-reaching consequences for those who are affected and their relatives.
Christian Runkel, CEO of POLIFILM GmbH, explains why POLIFILM is providing support in this particular case: “It’s fantastic when people get involved in large-scale campaigns for a good cause and raise awareness of important issues. Based on our company history, we direct our focus into areas in which not everyone is paying attention. In niches. That is also the reason why we prefer to support projects like this.”
Clive Svendsen, director of the Cedars-Sinai Board of Governors Regenerative Medicine Institute, as well as the project manager for this work, emphasises the importance of this approach “If you have met affected children, you know how important support is. No matter what the disease rates are. The children need help and their loved ones deserve the right to hope just as much as those with more widespread diseases.”
It is precisely this hope that Svendsen and his team, which includes Samuel Refetoff, Professor of Medicine, Pediatrics and Genetics at the University of Chicago, and the world’s leading expert on MCT8, are hoping to realize with the project funded.
The children need help and their loved ones deserve the right to hope just as much as those with more widespread diseases.
Clive SvendsenDirector of the Cedars-Sinai Board of Governors Regenerative Medicine Institute
After all, the centrepiece of the project, the pursuance of a new type of gene therapy, may be the chance to alleviate the symptoms for AHDS patients. However, the researchers still have a long way to go before that happens. Because the active agent must undergo at least a two-year preclinical development programme before the first patient can even be treated. Donations such as those from POLIFILM are helping to make this journey possible.
More information about AHDS and the basics of the gene therapy approach can be found here.
A
About Cedars-Sinai
Cedars-Sinai is a non-profit healthcare organisation based in California. Cedars-Sinai focuses on biomedical research and technologically advanced medical education based on an interdisciplinary collaboration between physicians and clinical researchers. Cedars-Sinai Medical Center’s academic division, which includes a clinical teaching hospital, has research centres in a variety of disciplines and has more than 500 clinical trials and 900 ongoing research projects. More information on https://www.cedars-sinai.org/home.html