Second International Norrie Disease Association (NDA) Conference

Programme of the Norrie Disease Association Convention, August 9-11, 2012

THURSDAY (August 9)

Holiday Inn, Beacon Hill, 13th floor
3:00 PM - 6:00 PM
5:00 PM - 7:00 PM
Informal cocktails, independent evening dinner

FRIDAY (August 10)
Simches Research Building, MGH, 3rd Floor, 185 Cambridge St,
adjacent to Holiday Inn

  • 7:00 AM
    Registration and check-in (through 9am)
  • 8:30 AM
    Conference Welcome Bruce Maguire, President of the Norrie Disease Association Katherine Sims, MD, Professor of Neurology, Harvard Medical School, Director of Neurogenetics Clinic at MGH
  • 8:45 AM
    Historical Overview of Norrie Disease and the NDA
  • 9:00 AM
    Keynote Address: “Understanding the Drug Development Process: New Models of Bioinnovation
    Kenneth Kaitin, PhD, Professor and Director of Tufts Center for the Study of Drug Development, Tufts University School of Medicine


  • 10:15 AM
    Progress Towards Understanding the Functional Role of Norrin in the Eye and Ear
    Wolfgang Berger, PhD, Professor of Medical Molecular Genetics, University of Zurich, Switzerland
  • 11:15 AM
    Hearing Augmentation in Norrie Disease: Hearing Aids and Cochlear Implants Chris Halpin, PhD, Associate Professor, Harvard Medical School, Audiologist MEEI

12:00 PM Complimentary Pizza Lunch (Simches Conference Center)

  • 1:15 PM
    Cochlear Implants: Assessment, Procedures, Expectations and Outcomes
    Jeanne Fredricksen, Sr. Consumer Outreach Manager for Med-El


  • 2:30 PM
    Norrie Disease: Closing the gap between the Known and the Unknown
    Heidi Rehm, PhD, Laboratory for Molecular Medicine, Associate Molecular Geneticist, Harvard Medical School
  • 3:30 PM
    Adult with Norrie Disease Panel Bruce Maguire, John Miller, Rikki Chaplin
  • 4:30 PM
    Introduction to Tactile Finger Spelling Barbara Doyle, MS, Clinical Consultant and Autism Specialist
  • 5:15 PM
    Group Meetings (individuals with ND, siblings, parents)

6:30 PM Complimentary Buffet Dinner (Simches Conference Center) (includes tribute to Michael Kosior)

SATURDAY (August 11)
Simches Research Building, MGH, 3rd Floor, 185 Cambridge St. [adjacent to Holiday Inn]

  • 8:45 AM
    Genetic counseling, blood collection, and research (through 12pm)
  • 8:45 AM
    Adaptive Technology Today and Tomorrow Barbara Doyle, MS

10:00 AM BREAK

  • 10:30 AM
    Non-24-Hour Sleep Research and Drug Trial
    Annie Gallagher, Outreach Specialist Vanda Pharmaceuticals, Inc.
  • 11:15 AM
    Resources for Everyone Ann Shor, Director of Independent Living and Assistive Technology (Mass Rehab Commission)

12:00 PM Boxed lunch (Simches Conference Center)

  • 1:30 PM
    Understanding Autism in Norrie Disease
    Barbara Doyle, MS 2:45PM BREAK
  • 3:15 PM
    Positive Strategies for Changing Problematic Behavior
    Barbara Doyle, MS


  • Norrie Disease and Sexuality
    Beth Stepanczuk, MD Physical Medicine and Rehabilitation Resident at UPMC (Followed by a panel discussion)
  • 4:45 PM
    Presentation of the Board, Acknowledgements, Concluding Remarks
  • 6:00 PM
    Duck Boat Tour of Boston (leaves from Holiday Inn front entrance)
    Independent evening dinner