Working together toward a cure
Research Partners
The MYT1L Project and its counterpart in France, Les Extra-Vaillants, have established strong working relationships with leading researchers in the U.S., France and Germany. These researchers are at the forefront of scientific discovery into MYT1L, working tirelessly to deepen our understanding of this rare genetic condition and bring hope to families affected by it. Our organization aims to promote collaboration among these complementary teams, and we welcome new partnerships that can expand our understanding and accelerate the development of effective treatments.
United States
Washington University
The Washington University research team, led by Drs. Kristen Kroll, Joseph Dougherty, and Susan Maloney, first became involved in MYT1L research after a family seen by a clinician there learned of their son's MYT1L syndrome diagnosis, and raised money for the creation of the first MYT1L syndrome mouse line. This led to a five-year NIH grant in 2020 to study MYT1L further in mice and cell lines, and a 2022 grant from RTW Foundation to explore antisense oligonucleotides (ASOs) as a potential gene-based treatment for MYT1L syndrome. This promising work is ongoing, and Drs. Dougherty and Kroll have partnered with The MYT1L Project to help inform and power their future work.
France
Research into MYT1L in France has been spearheaded and continuously supported through the efforts the the French MYT1L association, Les Extra-Vaillants. Led by Dr. Juliette Coursimault, the French team has published important work to aid in our understanding of the characteristics of MYT1L syndrome, including the breadth of severity seen in patients. Current work is focused on achieving a better understanding of hyperphagia and obesity in MYT1L syndrome, and how they change over the lifespan in humans.
Germany
Hector Institute for Translational Brain Research
The German team's research into MYT1L began with a collaboration between Drs. Moritz Mall and Marius Wernig at Stanford University in the U.S. Their early worked contributed to our understanding of how MYT1L functions during embryonic brain development, and how haploinsufficiency of MYT1L exerts its changes on the brain. Now affiliated with the Hector Institute for Translational Brain Research in Germany, this team has gone on to develop a MYT1L-deficient mouse line as well as cell lines, and was first to identify the potential effectiveness of a commonly used epilepsy medication, lamotrigine, in treating symptoms of MYT1L.