Genetic Diseases
Research

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 diagnosis. But significant questions about disease progression, treatment and cure remain.

NTSAD Research Initiative

NTSAD’s Research Initiative strives to:

• clearly communicate disease-related research developments
• provide networking for basic and clinical scientists focused on our disorders
  and funding organizations
• galvanize the lysosomal storage and leukodystrophy diseases community.

NTSAD seeks to define the relevant research by understanding and communicating research already underway, by promoting the viability of current research, and by securing public and private sources of research funding.

The Research Initiative Committee is a network of committed and passionate people directly affected by lysosomal storage and leukodystrophy diseases dedicated to raising the funds necessary to vigorously pursue treatments and ultimately cure these devastating diseases.

NTSAD established the Scientific Advisory Research Evaluation Subcommittee to liaison to the scientific community in order to assess current research developments and advise the Research Initiative Committee on the leading scientific efforts. Together these committees endeavor to unite and motivate scientific and philanthropic leaders from around the world.

NTSAD solicits proposals for innovative research projects that should generate strong preliminary data for major funding in the area of genetic neurodegenerative disorders and, in partnership with other organizations or as part of a larger consortium, the Research Initiative funds research that can lead to novel treatments for lysosomal or leukodystrophy diseases impacting the central nervous system.