Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
The room was filled with such a great energy thanks to those who attended. They all had such diverse connections to NTSAD - from families and their friends to guests with connections to the broader rare disease community.
Our honoree, Phil Reilly, MD, JD, of Third Rock Ventures, graciously received his honoree award from NTSAD parent, Sherri Epstein, for his work developing new therapies for rare genetic diseases. He poignantly reminded us all that many of the diseases that were once fatal just a few decades ago, are now treatable, and that we can believe the same will happen for our group of rare diseases. It is clear that each person touched by NTSAD feels invested in the mission, the families, and most of all, in finding a cure. Emily Rapp, our special guest, was introduced by NTSAD Executive Vice President, Brian Manning, and shared her story as eloquently as she writes. One anecdote she shared was an example of the close-knit and knowledgeable NTSAD family: her son's neurologist, when he was unable to answer a question for her, told Emily, to "ask the NTSAD moms." We were thrilled to have NTSAD parent and board member, Blyth Lord, introduce a brief clip of NTSAD's new film, "Parenting a Child with Life-limiting Illness." One attendee spoke of how after hearing such moving stories, he was "left wanting more." It is easy to be drawn in to this special NTSAD family and we see every supporter as a part of it - not just on one night, but throughout the year. The silent auction had a flurry of activity raising over $6,000, and thanks to NTSAD parent and board member Flory's plea over $5,000 was raised for research in a few short minutes. (Pledge cards are still coming in, so it's not too late to further the success of the evening! We hope you consider making a gift here.) Thanks to all who supported the evening with good wishes, great bidding and generous hearts!!! We must give a special thanks to our generous sponsors for making this evening possible.
Visit our Imagine & Believe page on our website here to see who they are.
To see the event photo gallery, visit our Facebook page here.
Annual Benefit Scheduled for November 7
October 29, 2013—BOSTON, MA—
National Tay-Sachs & Allied Diseases Association (NTSAD), the nation’s oldest patient advocacy organization, announced that Philip Reilly, M.D., J.D. will be the honoree at its Imagine & Believe Benefit to fund rare disease research and support families affected by Tay-Sachs, Canavan and related rare genetic diseases.
The event, to be held Thursday November 7, 2013 from 6:00 to 9:30 pm at the Royal Sonesta Hotel in Cambridge, will also feature special guest Emily Rapp, a
New York Times best-selling author who lost her son Ronan to Tay-Sachs.
Tickets and more information are available at www.ntsad.org or by calling (617) 277-4463.
Event honoree Dr. Reilly is a venture partner at Third Rock Ventures, where he nurtures companies dedicated to breakthrough treatments for genetic diseases. A founding fellow of the American College of Medical Genetics and former two-time President of the American Society of Law, Medicine and Ethics, he speaks frequently about genetics.
"Phil Reilly has dedicated his career to work that personifies NTSAD’s mission. His long-standing interest in genetic testing and in developing new therapies for genetic diseases, coupled with a compassionate and personal approach to those affected by these diseases, mirrors the focus of our organization," says NTSAD Executive Director Susan Kahn.
NTSAD funds promising research and supports more than 500 affected families and individuals worldwide. The organization’s educational programs raise awareness of how to prevent Tay-Sachs, Canavan, Sandhoff, GM-1 and related neurodegenerative
enzyme deficiency diseases, which are frequently life-limiting. NTSAD gives help and hope to thousands of individuals and families from many backgrounds and ethnicities affected by these lysosomal storage diseases and leukodystrophies.
"Dr. Reilly’s many accomplishments in the genetics community continue to benefit industry, patients and their families," says NTSAD President Shari Ungerleider. "As a patient and disease advocacy group with a 56 year history of support, science, and education in genetics-based diseases, we are delighted that he is our honoree this year."
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Note to editors: Photos available upon request. Local families affected by Tay-Sachs and related rare genetic diseases are available for interviews.
Boston, MA—October 15, 2013—National Tay-Sachs & Allied Diseases Association (NTSAD) today announced that it is forming the Jacob’s Cure Fund to support research and family services in Canavan disease. NTSAD will continue and expand the work of Jacob’s Cure, a non-profit that has funded research for Canavan disease and plans to close this month. Tay-Sachs and Canavan are among a group of about 90 rare inherited diseases that cause neurological impairment and are often life limiting, and have been NTSAD’s focus for more than fifty years.
Canavan disease is a
leukodystrophy, a group of disorders characterized by degeneration of the white matter in the brain. Tay-Sachs is a lysosomal storage disease caused by an
Founded 13 years ago by Jordana Holovach to fund Canavan Disease research after her son, Jacob, was diagnosed with the disease, Jacob’s Cure has raised $10 million to fund medical research in the hope of finding a cure for the progressive neurodegenerative disease. The
gene therapy and stem cell research funded by Jacob’s Cure may lead to treatments for other "white matter" neurological diseases, including Parkinson's, Multiple Sclerosis and ALS.
“We chose NTSAD, the nation’s oldest patient advocacy group, in order to consolidate our efforts to find a treatment or cure for this group of debilitating and often devastating diseases,” Holovach said. “NTSAD’s family support services are also second to none and have earned NTSAD a great deal of respect in the rare disease community.”
Jacob’s Cure will continue its legacy as an NTSAD fund, and Ms. Holovach will join the NTSAD Board as an honorary member.
“Jacob’s Cure has contributed immeasurably to the advance of new approaches to treat Canavan Disease, and we are honored to carry their mission into the future,” said Shari Ungerleider, President of NTSAD. “The diseases are different, but the path is similar both in research and for the families affected, and collectively, our strength is multiplied.”
JScreen, a new program launched in early September 2013 by Emory University in partnership with the Marcus Foundation, turned to NTSAD this past year for our guidance as they developed their program to expand carrier screening for the Jewish community and to give families of Jewish descent “easy access to information and allow testing to be done conveniently from home.” They wanted to be sure they offered correct and current information about Tay-Sachs screening before launching to the public. NTSAD’s Scientific Advisory Committee (SAC) made suggestions regarding testing and JScreen made it their priority to heed their advice about education and access to
enzyme testing for Tay-Sachs carrier screening. (On the recommendation of our Scientific Advisory Committee, JScreen will track the percentage of participants that are following up with enzyme testing and will keep NTSAD apprised of the results.)
Karen Grinzaid, JScreen ‘s Senior Director of Outreach Initiatives, attended the Annual Family Conference and Scientific Advisory Committee (SAC) meeting to present JScreen’s plans for ensuring that their Tay-Sachs screening would be performed according to NTSAD’s Tay-Sachs Testing Guidelines.
Their Tay-Sachs enzyme plan for program participants includes:
JScreen, is currently up and running in Georgia, Florida, North Carolina, South Carolina, Washington DC, Virginia and Maryland, with hopes for national expansion in the near future. Visit their website at www.jscreen.org for more information.
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