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Rare Disease Day 2020

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

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

The following presentations are available to watch online:

1. KDM5C Clinical Manifestations Survey Results Results of the first ever survey of families affected by KDM5C disorder conducted during February 2020.

2. A Clinical Perspective on the KDM5C Clinical Manifestations Survey Results

3. Panel Discussion Topics discussed: thermoregulation, growth, regression, KDM5B, autism diagnosis, setting up regional foundation chapters, prospects for gene therapy, how to accelerate scientific research.

4. KDM5C Research Covers what we know so far and what research is taking place. The slides are available here

All of the above presentations are available at this YouTube playlist

Rare Disease Day 2020 Event Programme

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