In November 2019 we organized the first international conference on MDC1A. It was a big success. In the coming weeks we will publish videos of the lectures here. In the meantime we are busy organizing a second edition. Keep an eye on this website for all information.
Opening with B. Verbrugge, H. Smeets, D. Linden and Saturday chair K. Huisman
Investigator at the Neuromuscular and Neurogenic Disorders of Childhood Section - National Institutes of Health, USA. Dr. Reghan Foley is specialised in pediatric neuromuscular diseases.
H. Sawnani, M.D. is a pediatric pulmonologist at the Cincinnati Children’s Hospital in the USA. His interest lies with pulmonary care for patients with muscular dystrophy.
Honorary Senior Lecturer and Consultant in Neuromuscular Diseases at the Dubowitz Neuromuscular Centre at the UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
Head of the Department of Experimental Medical Science and Professor of Muscle Biology at Lund University, Sweden
D. Kemaladewi is an Assistant Professor at the University of Pittsburgh, USA. Her research focusses on underlying molecular mechanisms of muscular dystrophies.
Constance Thornley Professor of Regenerative Medicine, position in Extended Committee and clinical expert and cell therapy.
Meet the experts for patients, caregivers and professionals
The programme consists of 3 parts. First, we will start with a series of 6 lectures, half of them on clinical issues and half of them on therapy development. The first lecture gives an overview of the theme (clinical spectrum, therapy) and the other lectures will be more in-depth by researchers sharing their recent exciting findings. Topics are based on input from the patient organization “Voor Sara”. After the first 3 lectures there will be lunch.
Following the last lecture we have 3 round-table sessions, allowing you to learn about the topics you are most interested in and discuss these with world-experts in the field. Each table has a theme and 1 or 2 experts allocated to them. For the Dutch speaking participants, we also have 2 round tables explaining the presentations in Dutch and 2 tables explaining the clinical and therapeutic research done in the Netherlands. Please select upon registration which table you would like to join in which session by indicating the number of that session. You can choose 3, one table per session.
After the round table sessions, a walking dinner will be served, allowing you to interact on a one-to-one basis with all other participants. But also to exchange experiences and have fun. We hope that by the end of the day, everybody has achieved what they wanted and has established contacts and a network to fulfil his or her own interests and needs in the future. We intend to make these contacts sustainable by organizing this meeting on a regular basis.
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.