60+ Researchers Attended Kabuki Syndrome Symposium

Kabuki syndrome symposium builds connections for treatments

Over 60 researchers and clinicians attended our 2023 Scientific Symposium for Kabuki Syndrome!

This virtual event fosters collaborations and encourages scientific knowledge-sharing. By enabling Kabuki syndrome experts to gather and discuss their latest findings, we are building connections that help find treatments faster.

Our Kabuki Syndrome Symposium was facilitated by KSF’s Chief Scientific Officer, Dr. Bruce Bloom and Director of Research, Dr. Clara Tang and chaired by Dr. Hans Bjornsson (Johns Hopkins, University of Iceland).

The symposium featured fifteen 10-minute oral virtual presentations on the following four themes, followed by Q&A:

  • Genetics and epigenetics: explore the genetic and epigenetic mechanisms underlying Kabuki syndrome, including functions of KMT2D and KDM6A and the molecular pathways that are affected.
  • Kabuki syndrome phenotypes: the latest insights on the pathways and mechanisms underlying neurological, immune and metabolic features of Kabuki syndrome.
  • Therapeutic opportunities: potential pharmacological interventions and the latest advances in treatment strategies for Kabuki syndrome.
  • Diagnosis and clinical trial readiness: recent research on diagnostic methods, biomarkers and outcome measures development.

Session Chairs and Theme Highlights

Dr. Siddharth Banka from the University of Manchester and Dr. Jacqui Harris from Kennedy Krieger Institute, Johns Hopkins University chaired the first two sessions of the Kabuki Syndrome Symposium. Italian and American investigators shared their latest insights and discoveries on various Kabuki syndrome phenotypes.

Then Dr. Margaret Adam from the University of Washington School of Medicine, Seattle Children’s Hospital, chaired the next session. It included presentations from researchers based in the US and Canada covering the genetics and epigenetics of Kabuki syndrome.

Afterward, Dr. Bruce Bloom chaired the last two sessions of the Symposium, titled therapeutic opportunities and clinical trial readiness. These sessions showcased data from American and Italian researchers on:

  • two potential treatment strategies for Kabuki syndrome: DCF (Dr. Kasturi Haldar, Professor at University of Notre Dame) and ATR inhibitors (Dr. Alessio Zippo, Associate Professor at University of Trento), and
  • the development of biomarkers and outcome measures for Kabuki syndrome clinical trials.

Read the full Kabuki Syndrome Symposium summary.

Questions? Please reach out to Dr. Tang, KSF Director of Research.

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