Rare and Neglected Diseases Symposium 2022: Intellectual Disability


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Chair and Moderator.    Dr. Jacqueline Harris, Director, Epigenetics Clinic at Kennedy Krieger Institute; Assistant Professor of Pediatrics, Neurology and Genetics.  The Johns Hopkins University School of Medicine.

2.00-2.30 pm. Dr. Jacqueline Harris   Kabuki syndrome: Designing clinical outcome measures and clinical trials for a potentially treatable cause of intellectual disability.      

2.30-3.00 pm Dr. Elizabeth Berry-Kravis.  Co-Director, Genetic Laboratory. Professor, Department of Pediatrics, Rush University Medical Center.  Reversal of Genetic Intellectual Disability: Angelman Syndrome and Beyond.

Break.  3.00-3.15 pm

3.15-4.00 pm Patient Leadership Panel.  Kabuki Syndrome

Janet Lee, Rene King, Annie Dean Zaitzef, Leila Zegna, Jennifer Mantey Goldsmith, Amanda Gamboa.

4.00-4.30 pm Dr. Prasad Padmanabhan and Ryan McArdle, Notre Dame.  Long-term stimulation of post-natal neurogenesis in a mouse model of Kabuki Syndrome 

4.30-5.00 pmDr. Chris Patzke John M. and Mary Jo Boler Assistant Professor, Notre Dame.     Human Neurons as Tool for Dissecting of Intellectual Disability Disease Pathology Mechanisms in Autism Spectrum Disorders