HUM-MOLGEN DIAGnostics/Clinical Research


Gene therapy research for Fragile X syndrome

II am interested in persuing the use of the adeno-associated virus as a vector to introduce the normal FMR-1 gene into the brains of the Fragile X "knockout mouse" model.

I am a family physician with a full time medical practice in Toronto,Ontario, Canada. In July of 1995 my wife and I learned that two of our three young sons had inherited the Fragile X syndrome. They were 3 years old and 18 months old respectively.

I was very surprised to learn how little the general medical profession knew about the condition , and even more distressed when I learned how low a research priority it was in the academic community.

I wanted to use my scientific and medical background to take things into my own hands, so that a treatment could be found in time to benefit my own children. Consequently, I began reading every scientific paper written on the subject.

I believe that the tremendous advances that have occurred in molecular genetics over the past five years have set the stage for animal trials and ultimately some form of gene therapy for the Fragile X syndrome in humans in the next 5 to 10 years.

My delemma is that I have been trained as a clinician and have no research experience and no formal university affiliation. I understand the theory involved but know nothing of the practical aspects, such as the equipment and materials required for molecular modeling, recombinant DNA cloning, sequencing and expression etc.

This is only my second step of the proverbial "thousand mile journey", and I need this information when I approach the various labs in the area to negotiate the use of their equipment for this research.

Thank you once again for your kind attention and cooperation in this matter. I hope you find this information helpful in defining my position and goals, and look forward to hearing from you in the near future.

Carlo Paribello M.D.
Toronto, Ont. Canada