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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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Dedicated to the 60 year history and accomplishments of NTSAD

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This annual calendar raises funds needed to continue the fight to treat and cure these devastating diseases - supporting research, family services, education and carrier screening for prevention.

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Free Tay-Sachs Disease Screenings for Irish at Irish Fest Boston

Child's hand reaching for a cloverSunday June 5
1:00 - 3:00pm
Irish Cultural Centre of New England
200 New Boston Drive
Canton Ma

Einstein Medical Center Philadelphia, located in Philadelphia, Pa is offering free Tay-Sachs disease screenings to those of Irish descent Sunday, June 5 at Irish Fest Boston—a two day festival (starting June 4) of Irish art & culture being held at the Irish Cultural Centre of New England at 200 New Boston Drive in Canton Ma. The screenings, which will be held from 1-3 pm  involve a simple blood test.

To be eligible, participants must be at least 18 years of age and have at least three grandparents of Irish descent.

Optionally, you can sign-up ahead of time for this screening by going online to http://irish-tay-sachs-study.eventbrite.com, sending an email to This email address is being protected from spambots. You need JavaScript enabled to view it., or by phone at 484-636-4197.

Tay-Sachs Disease is a fatal neurodegenerative disease that can be passed on to children when both parents are carriers of an altered gene. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age when they begin to lose previously attained skills, such as sitting up or rolling over. Children then gradually lose their sight, hearing and swallowing abilities. These children usually die by the age of five.

In the past, Tay-Sachs was often thought of as a Jewish genetic disorder due to its large presence among Ashkenazi Jews. But, cases of Tay-Sachs have been identified in the Irish population right here in Philadelphia over the last few years. That’s why Dr. Adele Schneider, director of clinical genetics at Einstein Medical Center Philadelphia and her team at Einstein are conducting a study to find out just how high the carrier rate is among people of Irish descent. The study,  the only one done in the Irish population since DNA testing for the gene mutation has been available,  aims to screen 1,000 people, and is funded by the Albert Einstein Society and the National Tay-Sachs & Allied Diseases Association of Delaware Valley.
If the carrier rate turns out to be high, then large –scale screening initiatives—like those conducted through the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein and other facilities throughout the country—could identify carriers before they pass on the Tay-Sachs gene.

For more information about Tay-Sachs screening contact Amybeth Weaver, MS, CGC at 484-636-4197 or This email address is being protected from spambots. You need JavaScript enabled to view it..

2015 Research Grant Opportunity

Made possible by Team NTSAD, National Tay-Sachs & Allied Diseases Association (NTSAD), 

and the Orphan Disease Center at PennMedicine

The 2015 Million Dollar Bike Ride Pilot Grant Program is now open. 

One $43,000 pilot grant is available focusing on forms of Tay-Sachs, Sandhoff, GM-1, or Canavan disease. We are soliciting proposals for innovative research projects that involve basic research, translational studies or clinical studies relevant to the diseases mentioned above.  Projects may be focused on (1) technology approaches such as stem cells, molecular chaperones, substrate inhibitors, small molecule drug screening, gene therapy, novel drug delivery to the brain or on (2) other pre-clinical and clinical research needs, such as clinical outcome measures, registries, animal models, or biomarkers

This grant is made possible by Team NTSAD, the National Tay-Sachs & Allied Diseases Association, and the Orphan Disease Center at PennMedicine.

Please first review the RFA guidelines before submitting your pre-application using the web form below.  All pre-application submissions are due

Monday, September 14, 2015 by 5:00 pm (EST).  If your pre-application is approved, you will be notified with an invitation to submit a full-application, due October 19, 2015.

For questions regarding this pilot grant program, please contact Samantha Charleston at This email address is being protected from spambots. You need JavaScript enabled to view it., or (215) 573-6822.

Click here to view the 2015 MDBR Pilot Grant RFA Guidelines: 2015 MDBR Pilot Grant RFA Guidelines

Click here to submit your pre-application: 2015 MDBR Pre-Application

 

 

Last year's Million Dollar Bike Ride Grant recipient was Dr. Annette Bley, a pediatrician from Germany. She was awarded a grant to study the natural history of Canavan disease (CD). This work will allow Dr. Bley and others to learn more about the natural course of CD and to develop quantifiable measures of the disease. 

 

 

$266,000 Awarded

NTSAD is pleased to announce the 2015 Research Initiative Grants totaling $266,000 thanks to many generous research supporters.

This year NTSAD solicited proposals for innovative research projects that involve

  • basic research
  • translational studies or
  • clinical studies

Grant awards were based on final proposal evaluations by a Research Evaluation Subcommittee of NTSAD's Scientific Advisory Committee and other scientists who generously volunteered their time. Grants were made for a one to two year period for up to $40,000 per year. (Funding for a second year is predicated by adequate progress during year one.

View the full Request For Proposal

View Press Release

NTSAD would like to thank all of those that submitted an application this year. The pool of applicants was highly competitive and numerous proposals were conducive to the NTSAD mission. At this time NTSAD congratulates the five awardees for the 2015 research grants and includes their summaries below.

The Awards

Denis C. Lehotay, PhD, Principal Investigator
University of Saskatchewan College of Medicine

Project: Development and validation of a rapid, MS/MS-based method
to detect Hexosaminidase deficiency in Tay-Sachs disease

Douglas R. Martin, PhD, Principal Investigator
Auburn University

Project: Intravascular gene therapy for feline GM2 gangliosidosis

Heather A. Lau, MD, MS, Principal Investigator
Paola Leone, PhD, Co-Investigator
New York University
The Canavan Foundation, Co-funder

Project: Defining the Natural History of Canavan Disease through Development of an International Registry


The following two grants are made possible by the Katie & Allie Buryk Research Fund of NTSAD:

Florian S. Eichler, MD, Principal Investigator
Massachusetts General Hospital

Project: Registry and Repository for Late Onset GM2 Gangliosidoses

Eric R. Sjoberg, PhD, Principal Investigator
OrPhi Therapeutics

Project: Generation of a knock-in mutant Hexb mouse model

Project Details

For a description of each project's goals and impact, read more at 2015 Research Initiative Grants

About the Research Grant Initiative

NTSAD has maintained a strong commitment to funding research over the years to advance its mission to lead the fight to treat and cure Tay-Sachs, GM-1, Sandhoff, Canavan, and other related genetic diseases. Read about the NTSAD Research Initiative including highlights and past awards.

On May 7, 2015 the New York Times Well blog, Think Like a Doctor, presents the symptoms reported by twin sisters, Katie and Allie Buryk. Readers are asked to figure out the diagnosis and comment. The patient history, neurological notes and blood test results are offered as clues. Read the blog entry here: http://well.blogs.nytimes.com/2015/05/07/think-like-a-doctor-taking-a-stand/?ref=health&_r=0

Almost 300 responses were made. The New York Times posted on May 8 the diagnosis being Late Onset Tay Sachs and describes how the diagnosis was made. Less than a handful of the reader's comments mentioned Late Onset Tay Sachs. Read the blog diagnosis entry here: http://well.blogs.nytimes.com//2015/05/08/think-like-a-doctor-taking-a-stand-solved/

 

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