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NTSAD Awards $266,000 in Research Money

SEPTEMBER 19, 2015
James Radke, PhD
The National Tay-Sachs & Allied Diseases Association (NTSAD) announced the 5 awardees of the 2015 Innovative Research Grants to fund research aligned with NTSAD’s mission to lead the fight to treat and cure Tay-Sachs (TSD), GM-1, Sandhoff, Canavan (CD) and other related genetic diseases.  This year’s grants include projects related to newborn screening, gene therapy delivery methods, animal models and international patient registries.
 
The 5 grants total $266,000 in research money over the next 1 or 2 years.

The 5 grants will fund the following projects:

  • Development and validation of a rapid, MS/MS-based method to detect Hexosaminidase deficiency in Tay-Sachs disease
    • Denis C. Lehotay, PhD, Queens University
  • Intravascular gene therapy for feline GM2 gangliosidosis
    • Douglas R. Martin, PhD, Auburn University
  • Defining the Natural History of Canavan Disease through Development of an International Registry
    • Heather A. Lau, MD and Paola Leone, PhD, New York University
    • Grant co-funded by the Canavan Foundation
  • Registry and Repository for Late Onset GM2 Gangliosidoses
    • Florian S. Eichler, MD, Massachusetts General Hospital
    • Funded by the Katie & Allie Buryk Research Fund
  • Generation of a knock-in mutant Hexb mouse model
    • Eric R. Sjoberg, PhD, OrPhi Therapeutics
    • Funded by the Katie & Allie Buryk Research Fund
 
The 5 winners were difficult to choose from the large number of high quality applications submitted. Sue Kahn, Executive Director of NTSAD said:

“NTSAD thanks this year’s applicants, who submitted our highest-quality pool of proposals to date and reflect strong interest in addressing very pressing patient and scientific needs related to these diseases. We are gratified to see such innovative ideas aligned with the NTSAD mission.”

What is NTSAD?

NTSAD is one of the oldest patient advocacy groups in the country and is focused on a number of lysosomal diseases that have neurological components.

For example:
 
Tay-Sachs is a genetic disorder caused by the absence of beta-hexosaminidase (HexA) that leads to accumulation of GM-1 and is associated with progressive neurological impairments.
 
Canavan is a progressive neurological genetic disorder caused by the absence of aspartoacylase (ASPA) which breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin.
 
Gangliosidosis-1 (GM-1) is a progressive neurological genetic disorder caused by the absence of beta-galactosidase (GLB1) that leads to an accumation of GM-1 in cells, especially neurons.

Sandhoff disease is caused by mutations in the HexB gene that leads to accumulation of GM-1 and is associated with progressive neurological impairments.
 
To learn more about these and other conditions, visit www.ntsad.org
 
To learn more about the research grants, visit www.ntsad.org/index.php/research
 

 



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