Our 2018 Research Agenda

The M-CM Network began seven years ago funded by donations collected at a 1st birthday party. Since that time patient families have provided the support for us to do important work providing information and awareness resources. We have also been able to attend countless meetings and conferences that have helped us to understand the ecosystem of rare disease research, where M-CM fits in that ecosystem, and to build relationships for driving improvements in care and treatment of M-CM.

I am thrilled to tell you that we are now preparing to make the leap to supporting a scientific agenda that aims to improve both understanding and management of M-CM in the short term, and advance the basic science needed to develop and test treatments in the long term.

We have three projects to share with you:

Induced Pluripotent Stem Cells (iPSCs) to Model M-CM and Megalencephaly
Scientists use models of disease to study biological processes, conduct experiments, and screen compounds for drug discovery. For this project, we are partnering with researchers at Washington University St. Louis to develop cellular models of M-CM and megalencephaly. Cells donated by four research participants will be converted into pluripotent stem cells (iPSCs), which can then be differentiated into any type of cell in the body for study. These cells will contain their donors’ disease causing mutations. When differentiated into different cell types, they will serve as models of how these mutations affect cells in the human body. The resulting iPS cell lines will be banked so that they are widely accessible for research use. Researchers at Washington University will also develop neuronal cells for inclusion in an autism research consortium. These neuronal cells can be studied to understand what defects are present and discover ways to correct those defects.

Meeting to Update Medical Management Guidelines
A meeting to be chaired by UK geneticist Dr. Jill Clayton-Smith will assemble international experts to update management guidelines for M-CM and identify areas most in need of further research. This meeting will be produced in cooperation with M-CM UK.

Launch an M-CM Longitudinal Registry
The first phase of a longitudinal registry will launch, focused on creating infrastructure for long-term, robust data collection. The project ultimately aims to collect survey and medical records data to drive improvements in disease management and inform the design of clinical trials.

We have set a goal of $200,000 to fund these projects. This goal is ambitious! We are optimistic that the M-CM community will rally to help take our work to a new level. Click here to donate now.