Dr. Conny van Ravenswaaij - European Phelan-McDermid Syndrome Consortium
Dr. Conny van Ravenswaaij runs an expert Phelan-McDermid syndrome clinic in the Netherlands, and was a leading force behind the European Phelan-McDermid syndrome clinical consensus guidelines. She and Kate discuss the clinical recommendations and how to share them with your clinicians. Conny also covers a clinical trial that she ran on intranasal insulin, and current work studying Ring 22 in Phelan-McDermid syndrome.
Important links:
Clinical synopsis of european guidelines: https://ern-ithaca.eu/wp-content/uploads/2023/05/Clinical-synopsis-PMS-1.pdf
PMSF conference session on genetics (including Ring 22): https://www.youtube.com/watch?v=EOmPYpim3_8
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