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Institut für Medizinische Molekulargenetik

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

Weiterführende Informationen



The NDA is a diverse organization eager to serve individuals with Norrie Disease (ND), as well as their families, social circles, educators, employers, and medical professionals. We are working to expand our collective knowledge of ND by facilitating collaboration among these groups. Our vision is to become the primary resource and advocate for the international ND community. The NDA depends entirely on volunteers and member donations to operate, and its list of services will expand as the organization grows.