DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203
About this episode
The episode discusses the DSC-III Kickoff Meeting and ongoing efforts to enhance SYNGAP1 knowledge through collaboration and data management.
Friday, April 3, 2026 - Week 14 Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians. https://dsc.rarediseasesnetwork.org/patient-advocacy-groups More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/ We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations: Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis. University of Alabama at Birmingham led by Dr. Martina Bebin. Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/). After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies…
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