Research Resources
One key way CureSHANK’s is helping bridge the translational research gap between basic science and treatments for Phelan-McDermid syndrome (PMS) is by connecting researchers with resources. On this page, we have curated a wide spectrum of resources, ranging from information on how to access SHANK3 knockout mice and bio-samples from PMS patients, to clinical trials and natural history studies of Phelan-McDermid syndrome, to materials detailing the patient and caregiver burden in PMS, and more.
We welcome researchers seeking additional resources, or who have suggestions for topics for the CureSHANK Consortium Webinar Series “Resources for Researchers”, to contact us via the contact form below.
PATIENT TISSUE
CureSHANK PMS patient-derived iPSC lines
CureSHANK has started a biorepository and is now making patient iPSC lines available to researchers and drug developers (academic and industry).
Please inquire for more details by sending an email to research@cureshank.org
Additional Resources:
PMS patient-derived iPSC Collection at Boston Children’s Hospital
National Institute of Mental Health (NIMH) Repository & Genomics Resource (iPSC Collection)
Autism BrainNet via Simons Foundation Autism Research Initiative (SFARI) Base
California Institute for Regenerative Medicine (CIRM) iPSC Repository (available soon)
RODENT MODELS
CureSHANK Mouse Model (SHANK3 complete ko)
Additional Resources:
WEBINAR SERIES: Resources for Researchers
This new webinar series sponsored by the CureSHANK Consortium aims to inform researchers about key resources and help them navigate access to them. We welcome suggestions for future topics, which researchers can submit via the contact form below.
OTHER RESOURCES
National Institutes of Health (NIH): Clinical Trials
Developmental Synaptophies Consortium (DSC):
Natural History StudyRare Diseases Clinical Research Network (RDCRN):
Natural History Study Publications on Phelan-McDermid syndromeCLINICAL TRIAL SITES
(available soon)
RECENT SHANK3 RESEARCH
Access the latest SHANK3-related papers here.
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