Rare Disease Day Conference 2022

The 2022 Rare Disease Day Educational Conference was held virtually February 25-26, 2022 by University of Michigan Medicine.

The bonus session embedded here features KDM5C researchers discussing their work with animal models, as well as a panel of KDM5C parents who share about how the community has grown.

There are two US labs doing research on the KDM5C gene: 

• Iwase Laboratory research group at the University of Michigan, Ann Arbor, MI, USA

• Secombe Lab, Albert Einstein College of Medicine, Bronx, NY, USA

Rare Disease Day Conference 2020

On February 27, 2020, the Rose F. Kennedy Intellectual and Development Disabilities Research Center hosted its 8th annual celebration of Rare Disease Day at Albert Einstein College of Medicine, NY.

The morning session brought together twelve families whose children have KDM5C genetic changes and offered them the opportunity to learn more about the condition through a series of presentations and a panel discussion.

Video 1 Presents the Results of the first ever survey of families affected by KDM5C variants conducted during February 2020. Video 3 is a Panel Discussion that covers topics such as thermoregulation, growth, regression, KDM5B, autism diagnosis, setting up regional foundation chapters, prospects for gene therapy, how to accelerate scientific research.

All of the above presentations are available at this YouTube playlist

Here’s an article about the 2020 event.