Friday, JULY 17, 2015

NTSAD Monthly Research Review
  Fifth Annual 
  Day of Hope

  September 19, 2015

Not only is it summer, it is the season to start rallying and raising funds for research for NTSAD's Research Initiative. Since 2011, over $132,000 has been raised on and around the Annual Day of Hope with every penny going to research.

We're confident the energy of our supporters will help us reach our goal of raising at least $50,000 in honor of our Fifth Annual Day of Hope!

What is the NTSAD Research Initiative?
The NTSAD Research Initiative is our comprehensive strategic research program that funds cutting-edge efforts to find a cure and promote scientific collaboration to accelerate these efforts. NTSAD has supported ground-breaking research since our inception in 1957 beginning with identifying the missing enzyme that causes Tay-Sachs.

In 2002, NTSAD recommitted itself to finding a cure and founded the Research Initiative; 47 projects and $3.3 million later in grant awards, we are closer than ever to a cure. Several projects have led to larger NIH grants resulting in over $10 Million toward finding a cure!

What happens when a gift is made to research?
The funds designated for research are kept in a separate
restricted bank account. Every year a Request for Proposals (RFP) is issued worldwide, after which proposals are reviewed by members of our Scientific Advisory Committee and other research experts. They are evaluated and scored based on the strength of their plan and if it fits within the RFP goals. After a final evaluations, awards are then made.

There are families who choose to open a Family Fund that can be designated for a specific purpose. There are two current family funds, the  Katie & Allie Buryk Research Fund and the  Maanas Memorial Fund , which focus on Late Onset Tay-Sachs and Sandhoff research, respectively. After consulting with the Buryk Family, two grants were made to projects specific to Late Onset research boosting our research efforts even further!

An International Flair to Benefit Research!

A beautiful dance performance on June 21st in Ohio by Ria Mrudula Datla not only moved her audience, but raised nearly $17,000 for Sandhoff disease research through the Maanas Memorial Fund named in memory of her brother who had Sandhoff disease.

To see more pictures and to learn more about the Maanas Memorial Fund, visit our website here.
Teeing off for Research a Success!

NTSAD's new board president, Brian Manning and his family held their 12th Annual Drive "Fore" Dylan Golf Outing on June 19th raising over $30,000 to benefit the NTSAD Research Initiative. It was a sold-out event with terrific support from their family, friends and community as they honored the memory of their son Dylan who had Tay-Sachs. 

To see more pictures of the event, visit our website here.
 NTSAD Scientific Advisory Committee
Fran Platt, PhD (Chair)
Jodi Hoffman, MD (Vice chair)

Miriam Blitzer, PhD
Robert Desnick, PhD, MD
Florian Eichler, MD
Mark Haskins, VMD, MS, PhD
Michael Kaback, MD, FACMG
Edwin Kolodny, MD
Heather Lau, MD
Paola Leone, PhD
Heather Lau, MD
Paola Leone, PhDGustavo Maegawa, MD, PhD

Marvin Natowicz, MD, PhD
Swati Sathe, MD, MS
Thomas Seyfried, PhD
Barbara Shapiro, MD, PhD
Evan Snyder, MD, PhD
Cynthia Tifft, MD, PhD, FACMG
Steven Walkley, DVM, PhD
Michael Watson, PhD, FACMG

 NTSAD Corporate Advisory Council
Marion Howard, MD, PhD (Chair)
Oved Amitay
Ritu Baral
Michael Gladstone
Kate Haviland
Joan Keutzer, PhD
Greg Licholai, MD

Are you on Facebook and Twitter?

Follow us on Twitter     Like us on Facebook

Like NTSAD's Facebook page and follow  @susanrkahn for new developments in therapies, science, genetic testing, 
patient advocacy, and more.
Coming Soon!
For a second year, a Million Dollar Bike Ride Request for Proposals will be issued in the coming weeks. A grant for $40,000 will be made to a research project that holds promise for Sandhoff, GM1, Tay-Sachs, Canavan or related genetic diseases. 

We thank everyone who supported Team NTSAD on May 9th, 2015, the riders and UPenn's Orphan Disease Research Center in making this grant possible!
The National Organization for Rare Disorders (NORD), the leading independent, nonprofit organization committed to the identification, treatment, and cures of rare diseases, has announced the availability of new research grants to study rare diseases. 

The deadline to submit abstracts and letters of intent is July 31.

They will issue one (1) grant of up to $30,000 for a clinical research study related to the diagnosis and/or treatment of Lysosomal Storage Diseases.

See full RFP and abstract template here.
Published Paper Addresses Pyrimethamine

In 2009, NTSAD funded an investigator-sponsored clinical trial at Hospital for Sick Children and NYU for the treatment of late-onset with pyrimethamine (PYR) led by Drs. Joe Clarke and Ed Kolodny. The results were published in 2011. (An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients).

The study concluded that leukocyte Hex A activity is enhanced in vivo by treatment with PYR. However, future studies were needed to assess the protocol, including dosage, and perform related biochemical studies. An Israeli team of researchers performed similar studies and recently published their results.

While they also found that PYR increases HexA activity in LOTS patients, "the observed increase is repeatedly transient and not associated with discernible beneficial neurological or psychiatric effects."

Visit to download the paper from the Library.

Make a Difference Tomorrow
national tay-sachs & allied diseases association
susan kahn, executive director (
joan lawrence, development director (
diana pangonis, family services director (
ingrid miller, office manager (
becky benson, conference coordinator (

2001 beacon street
suite 204
boston, ma 02135
(617) 277-4463