The Cute Syndrome Foundation: SCN8A Epilepsy Support, Awareness, and Research
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​PCDH19 Research Funded by TCSF

University of Michigan's Dr. Jack Parent's PCDH19 iPS Cell Research

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Insieme per la Ricerca PCDH19 and The Cute Syndrome Foundation awarded a $20,000 grant to Dr. Jack Parent of the University of Michigan for his research using PCDH19 iPS cells. Dr Parent was a runner-up for our 2014 PCDH19 research grant (awarded to Dr. Maria Passafaro) and we are thrilled to support his research. It is our aim in 2015 to continue to support the most promising research proposals we received last year.

Dr. Parent's research description follows:The goals of our research are to understand the role of protocadherin-19 (PCDH19) in brain development and how PCDH19 mutations lead to epilepsy. To accomplish these goals, we are modeling PCDH19 Epilepsy using two cutting edge scientific approaches. First, we generate (excitatory and inhibitory) brain cells from patient skin biopsies using the induced pluripotent stem (iPS) cell method. With patient-derived brain cells in a dish, we can investigate the mechanisms by which altered nerve cell development and excitability cause seizures. We are also generating a rat model by disrupting the PCDH19 gene in a subset of cells in the embryonic rat brain. To do this we use a technique called in utero electroporation combined with sophisticated gene editing methods. We will examine how brain cells that lose PCDH19 affect development of the cerebral cortex and nerve cell excitability. Both patient-derived cell and rat models will also provide platforms to screen for new therapies to treat PCDH19 Epilepsy.

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Past PCDH19 Efforts

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The Cute Syndrome Foundation

PO Box 842 Ozark, MO 65721​
The Cute Syndrome is registered as a tax-exempt organization under IRS section 501(c)(3).
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Our tax identification number is: 46-2699066.

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  • Home
  • About
    • About SCN8A
    • About Us
    • Partner Organizations
    • Volunteers
    • Sponsors
    • 2021 Annual Report
  • Families
    • Caregiver Support
    • CUTE Connections Grant Application
    • Join our SCN8A Community
    • SCN8A Warriors
    • Educational Videos
    • Reference Guide
    • Resources
    • Shareable Graphics
  • Events
    • Annual SCN8A Clinician, Researcher, and Family Gathering
    • Researcher Roundtable
    • Awareness Day
    • Virtual 5k
  • Research
    • Clinical Trials
    • Research Grants
    • SCN8A Registry
  • Donate
  • Contact
  • Blog
  • Shop