Awardees

Poster presentation at "New Directions in Biology and Disease of Skeletal Muscle" June 23-26, 2024, Florida USA

The project developed by the association Naevus 2000 France-Europe and MMG, and supported by the Institut MarMaRa, aims to better characterize the diversity of cellular signatures within congenital giant nevi (CGN). CGN is a rare, highly visible malformation of the skin that can occur alone or in association with other, often neurological, symptoms. For some of the children thus affected, it also predisposes them to develop several types of cancer, the most frequent and lethal of which is malignant melanoma.

Thanks to funding from the Institute, Heather Etchevers' team has begun a pilot spatial transcriptomics study to identify the different cellular profiles of UCS directly in the context of the skin of patients scheduled for reconstructive surgery. The support of the MarMaRa Institute has enabled our association to leverage cutting-edge technologies and then facilitate a popularized presentation of the results during November 2023 by Dr Etchevers for our members and those of other European UCS family associations.

Further information

• Partner association website

The aim of our project is to develop and study new cellular models of LAMA2-RD derived from patient stem cells (hiPSC). Thanks to this funding, the team has already derived hiPSCs from four patients carrying different mutations in the LAMA2 gene, and phenotypic analyses of the differentiated muscle cells are currently underway. These will enable us to identify the pathological mechanisms of LAMA2-RD in humans and new therapeutic targets.

For our small LAMA2 France association, our priority is to be able to provide practical support to researchers working directly on this muscular dystrophy. Project co-funding is an effective way for us to get involved, while enabling us to follow research projects in a concrete way, and thus improve the information we provide to patients and their families. It's a win-win partnership!

To find out more

• Association website