2014- The Fred Liuzzi Foundation is taking the opportunity to begin the next stage of our research with funding two projects
Project 1- aDG Genetic Testing on Children
This grant is to be used specifically for the purposes of testing 7 undiagnosed child patients in an attempt to identify the underlying genetic cause of their disease, some of whom have remained undiagnosed for 10 or more years. This testing will result in at least half of these patients beings provided with a definitive cause of their disease and providing all with information to assist them to make informed decisions based on the diagnosis both now and for the future if and when treatment options become available. Testing for those gene mutations will require Next Generation Sequencing, this however can provide the opportunity for the definitive diagnosis needed.
Project 2- Myofibrillar Myopathy
This grant is to be used specifically for the purpose of identifying 20 individual specimens with Myofibrillar Myopathy and using Next Generation Sequencing to establish the relationship genes present that cause the disease. This will try to identify any genetic links and better understand the basis of the disease for future diagnosis.