NTSAD Research Initiative

Research as Background

With its inception in 1957, the founding families envisioned that NTSAD was to be an umbrella organization that would include not only the more prominent known disorders at the time: Tay-Sachs, a lysosomal storage disorder and Canavan, a leukodystrophy, but also related conditions posing similar clinical symptoms as well as shared familial, emotional and scientific problems. Fifty years ago, many of these “allied diseases” were not yet identified or named, but today the “allied diseases” represent a family of more than 50 genetic diseases including leukodystrophies and other lysosomal storage diseases affecting the central nervous system.

By supporting scientific research, these families wanted to find the answers to these questions:

• What causes these diseases?
• How do these diseases progress?
• Can we stop the progression?
• Can we treat the diseases? Can we cure these diseases?
• Can we prevent the diseases?

NTSAD’s support of the scientific process eventually led to some of the most exciting discoveries and firsts in genetics, including finding some of the genetic causes of disease and the resultant understanding of prevention through carrier testing, community screenings, and prenatal analysis. But significant questions about disease progression, treatment and cure remain.