Dutch non-profit foundation Voor Sara promotes research into the causes and treatments of rare muscle diseases in general and specifically MDC1A. The foundation seeks to achieve its goals by bringing attention to muscle diseases, raising funds, and giving all those involved the chance to come together, exchange information and drive innovation.
MDC1A is a hereditary muscle disorder often noticed at birth or within the first few months of life. It is a type congenital muscular dystrophy (CMD) and has an incidence of 1 to 4 in 100,000. MDC1A is caused by a defect in the LAMA2 gene which is responsible for the production of laminin α2 protein (previously called merosin). MDC1A is sometimes referred to as LAMA2-related muscular dystrophy.
Foundation Voor Sara was established at the end of 2016 and already made research into MDC1A possible at Maastricht University. Together with the university the foundation brings leading medical researchers and doctors together AS to make important steps into a therapy for MDC1A.
Foundation Voor Sara teams up with Maastricht University on the road to therapy for MDC1A. Professor dr. Bert Smeets works on stem cell therapy for muscle diseases, and was immediately caught by the strong motivation of the foundation to push the field forward not only for MDC1A, but also for other muscle diseases. Considering the opportunities this conference has to offer – like speeding up the process to get a much desired curative treatment – Smeets immediately offered to help by guaranteeing the scientific level and hosting the conference.
Under supervision of prof. dr. Bert Smeets, the Generate your Muscle (GYM) group is in cooperation with Stichting Voor Sara organizing the conference in November. GYM is a group of ambitious students from Maastricht University participating in the FHML Honours Programme.
The main goal is to create an overview of the pathophysiology and the challenges in treating congenital muscular dystrophies, and in particular MDC1A. International and local experts can share their findings on the latest innovative therapeutic treatments, current practices and more. The conference will further be a platform for all those involved in congenital muscle dystrophies, as patient foundations and members of the public can join certain activities in the aim of raising more awareness. A voice will be given to those affected by muscular dystrophies, so that we can explore what can be done better and what else can be focused on.