The Road Forward

Written by Nick Seaver, March 3, 2023

A week ago we hit a high point for the MED13L Foundation. The wonderful research team at Combined Brain completed their many month review of all things MED13L Syndrome and presented their strategic plan. It gives a super helpful roadmap for the things we want to do in order to set ourselves up for clinical trials and finding medicines for the community.

Combined Brain is an amazing non-profit consortium of leading patient advocacy foundations (more [here]). They focus on neurodevelopmental disorders and guide foundations and pool resources to work towards medicines and clinical trials. They kindly invited us to join their consortium in September.

This was a big leap forward for us as an organization. Combined Brain also works with biopharma companies that are focused on the rare disease space, so they have a good sense of what’s needed to move towards finding medicines. Hopefully we’ll be getting in front of some of these biopharma companies soon.

The presentation was very well attended by researchers from around the world. It has already sparked a lot of great ideas for research and development projects, and for collaboration between scientists and clinicians. Special thank you to Anna Pfalzer and Rachel Heilman for leading this project. Rachel did a terrific job presenting to this large group.

Here’s one slide that gives a sense of their recommended roadmap.