On November 13th, 2022, the Yaya Foundation invited a very special guest to join the #4HLFamilies call – Dr. Geneviève Bernard of McGill University. Dr. Bernard is one of the world’s leading clinician scientists of 4H/POLR3-related Leukodystrophy and an important partner of the Yaya Foundation in our search for a cure for 4H Leukodystrophy. 

Approximately 26 individuals and their families impacted by 4H Leukodystrophy joined the call from the United States as well as Italy, Mexico, and the United Kingdom. Live Spanish translation services were available for the call. 

Dr. Bernard spoke to the group about ongoing research regarding 4H Leukodystrophy and shared some recent, encouraging findings about her 4H Leukodystrophy mouse model, which is being funded by the Yaya Foundation. She also discussed future projects and next steps and mentioned several new collaborations and partnerships with research groups outside of McGill University that are currently being established.  

Dr. Bernard reserved more than an hour to answer questions from individuals and families who participated in the call. Some questions surrounded POLR3A research, others focused on specialty care areas (including whether to involve endocrinology or ophthalmology in a treatment team) or the viability of potential therapies being used by other rare disease groups. In this context, Dr. Bernard repeatedly emphasized how crucial Natural History data is for the development of therapies and encouraged families to participate in data collection and to enroll in the 4H Leukodystrophy Natural History Study.  

This #4HLFamilies session was not recorded because Dr. Bernard kindly agreed to share unpublished research findings. Once the results are published, the Yaya Foundation will schedule a formal presentation and link to the publication.

The Yaya Foundation is grateful for the partnership with Dr. Bernard and her team at McGill University and looks forward to hosting a meeting with her again in the future!