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WELCOME TO THE NEW YORK T SC CONFERENCE

WELCOME TO THE NEW YORK T SC CONFERENCE. May 5, 2013. TUBEROUS SCLEROSIS COMPLEX SCIENCE & MEDICAL UPDATE. Steve Roberds, Ph.D. Chief Scientific Officer 5 March 2013. TSC Clinical Consensus Conference Update recommended diagnosis, surveillance, & management.

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WELCOME TO THE NEW YORK T SC CONFERENCE

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  1. WELCOME TO THENEW YORK TSC CONFERENCE May 5, 2013

  2. TUBEROUS SCLEROSIS COMPLEXSCIENCE & MEDICAL UPDATE Steve Roberds, Ph.D. Chief Scientific Officer 5March 2013

  3. TSC Clinical Consensus ConferenceUpdate recommended diagnosis, surveillance, & management • June 14-15, 2012, in Washington, DC • Co-organizers Hope Northrup and Darcy Krueger • Working groups chaired by international experts • Epilepsy: Elizabeth Thiele • Brain Tumors: Sergiusz Jóźwiak • Behavior, Cognition, and Autism: Petrus de Vries • Dermatology and Dental: Tom Darling • Lung: Frank McCormack • Kidney: Chris Kingswood and John Bissler • Genetics: Julian Sampson • Multiple systems: Steve Sparagana

  4. TSC Clinical Consensus Conference Outcomes • Diagnostic criteria simplified • Addition of genetics: a known disease-causing mutation in TSC1 or TSC2 is sufficient for diagnosis • “Definite” or “Possible” diagnosis based on major & minor criteria • Surveillance and treatment recommendations updated based on most recent clinical studies • Scientific manuscripts submitted for peer-review and publication in open-access professional journals • Plans to update recommendations on a regular, more frequent basis

  5. Surveillance and Management Recommendations for Patients Already Diagnosed with Definite or Possible TSC

  6. Surveillance and Management Recommendations for Patients Already Diagnosed with Definite or Possible TSC

  7. Unlocking the CureSupporting cutting-edge research • TSC Natural History Database • 1180 participants and growing • 15 of our 35 TSC Clinics entering data • In 2013, moving to a more effective format and adding Cincinnati and Boston Children’s • 19 active research projects with 2012 annual investment of $1,202,810 • Postdoctoral fellowships • Research grants to established laboratories • Rothberg Courage Awards

  8. Unlocking the CureAdvancing clinical and translational research • Biomarkers: funding work toward methods for earlier detection of disease progression or effects of treatments • Drug Screening Program • Screening for combinations of drugs to eliminate tumors • Testing drugs for impact on neurological effects • Testing drugs for effects on tumor-specific metabolism • TSC Clinical Research Consortium • Helping to fund data center and study coordinators • Support awareness and recruitment

  9. Clinical Research ConsortiumTwo TSC clinical studies funded by NIH • Autism Center of Excellence NIH grant • Infrastructure for clinical studies with autism focus • Track development of autism in TSC to identify tools that will identify those at highest risk of autism at an early age • Cognitive evaluation, clinical data, EEG, and imaging • NIH grant to identify those at risk of infantile spasms • EEG and imaging as biomarkers • Validation of predictive biomarkers will enable a Phase 2 study of early intervention in TSC infants at highest risk of infantile spasms • Current sites • CH Boston, Cincinnati, UA Birmingham, UCLA, UT Houston

  10. Advances on the horizon • Preventing the onset of infantile spasms • Preventing or decreasing the development of autism • Personalized medicine – the ideal therapy for each individual • Building on the Human Genome Project • Mapping the Human Brain • Elimination of tumors, AMLs, and LAM – beyond shrinkage and stabilization • Future studies will likely require global partnership (TSCi)

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