Babies and children suffering from MDC1A have difficulty walking and breathing due to muscle weakness. Among these symptoms, patients generally suffer from a lower quality of life. The disease is caused by rare mutations in LAMA2, a gene responsible for the protein that holds muscles together.
Although symptoms can be reduced with physiotherapy, currently there is no cure due to its rare nature and limited research opportunities.
Under supervision of prof. dr. Bert Smeets, the Generate your Muscle (GYM) group was formed and 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. This is an interdisciplinary programme at the University of Maastricht providing…
One of the specialists who will attend the conference is dr. Dwi Kemaladewi. Together with an international team of scientists led by dr. Ronald Cohn, President and CEO, Senior Scientist, Paediatrician and Geneticist at SickKids hospital in Toronto she applied a modified version of the CRISPR gene-editing tool in a way that may eventually open…
A key element in this endeavour is bringing all MDC1A researchers together in Maastricht in November for a 3-day conference. Bram Verbrugge, father of Sara – with MDC1A – and chair of the foundation, is one of the initiators. He knows the impact MDC1A has on a child and experiences how difficult it is to…
