Only an estimated 500 people in the world have been identified with Norrie disease, a genetic disorder characterized by blindness at birth. In many cases affected males suffer progressive hearing loss. Norrie disease also can cause respiratory and circulation difficulties, and in some cases, mild to moderate intellectual disability. From Aug. 9 to 11, the MGH hosted the Norrie Disease Association’s second international conference at the Richard B. Simches
“Approximately 60 members of the Norrie disease community, including individuals living with the disease and their loved ones, traveled from several countries to attend the conference,” says Katherine Sims, MD, director of the Neurogenetics Clinic at the MGH and medical advisor to the Norrie Disease Association. “The goal was to share some of the latest research on the disease and to allow presenters and attendees to share practical tips for those living with this disorder – along with emotional support, which is critically important for such a small group scattered around the world.”
The conference featured presentations by researchers affiliated with the MGH, the Massachusetts Eye and Ear Infirmary, Tufts University School of Medicine, University of Zurich and Harvard Medical School and panel discussions led by Norrie Disease Association members.
“Some of the research discussions offered promising ideas on treating hearing loss in Norrie disease patients,” says Sims. “For those who have been visually impaired since birth, preserving their ability to hear will maintain their connection to the world around them.”
The Norrie Disease Association originally began as an online mailing group in 1993 and grew into a recognized nonprofit advocacy group in 2007, at which time Sims became its first medical advisor.
“Because this disease is so rare, patients living with it were some of the first to use online tools to connect with each other,” says Sims. “The conference was a great opportunity for them to meet in one place and connect with physicians, researchers, counselors and most important, each other.”
Read more articles from the 08/17/12 Hotline issue.