A look at the 2019 MDC1A Conference

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.

Watch the aftermovie
The speakers

The experts on MDC1A

Lecture

The clinical spectrum of MDC1A

By R. Foley

Investigator at the Neuromuscular and Neurogenic Disorders of Childhood Section - National Institutes of Health, USA. Dr. Reghan Foley is specialised in pediatric neuromuscular diseases.

Lecture

Clinical management of MDC1A

By H. Sawnani

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.

Lecture

Genotype-phenotype correlations in MDC1A and CMD

By A. Sarkozy

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

Lecture

Therapeutic strategies for MDC1A

By M. Durbeej

Head of the Department of Experimental Medical Science and Professor of Muscle Biology at Lund University, Sweden

Lecture

Gene therapy for MDC1A

By D. Kemaladewi

D. Kemaladewi is an Assistant Professor at the University of Pittsburgh, USA. Her research focusses on underlying molecular mechanisms of muscular dystrophies.

Lecture

Stem cell therapy in congenital MD

By G. Cossu

Constance Thornley Professor of Regenerative Medicine, position in Extended Committee and clinical expert and cell therapy.

Frequently asked questions

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 people in every 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.
The conference is initiated by Maastricht University and Stichting Voor Sara. This congress will address an overview of the pathophysiology and the challenges in treating congenital muscular dystrophies and in particular MDC1A.
Stichting Voor Sara is a Dutch non-profit foundation which promotes research into the causes and treatments of rare muscle diseases in general and specifically MDC1A. The foundation seeks to achieve its goals by raising funds, bringing attention to muscle diseases and giving the chance to all those involved to come together and exchange information. More information about the foundation can be found at www.voorsara.nl.
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.
By making a donation you automatically support the next conference and you will also be supporting research to be done into MDC1A.
You can also make a donation if you have a business or if you want to be a sponsor. All donations are tax deductible.
Foundation Voor Sara works closely with a number of independent medical advisors who evaluate the researches. Also the Princess Beatrix Muscle Fund and the Dutch Muscle Disease Patients Association advise us. This last party has written a letter of support for Professor Smeets’ research into muscle stem cell therapy. The international patients organisation also supports the research. Part of the research is funded by the Princess Beatrix Muscle Fund. All parties reviewed the research promising, ambitious and see it as very valuable in the search for a method for maintaining muscle mass.
The future

Conference in 2020/2021

After the succes of the first conference in November 2019, we aim to organise a second conference on MDC1A in 2020 or 2021. We will keep you posted on this website. In the meantime, check our knowledge page for the latest research results and other news.

Learn more about MDC1A

Feel free to get in touch

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