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Hello Friend -
Our 48th Annual Family Conference last week was a deeply meaningful and educational experience for individuals and families living with, caring for, or mourning the loss of someone with Tay-Sachs, Canavan, GM1, or Sandhoff disease. The opportunity to come together, share experiences, and learn from one another is always powerful, and this year was no exception. We are especially grateful to the dedicated researchers and clinicians who contributed their time and expertise to share promising updates and offer practical guidance. In the days leading up to the conference, we were also pleased to convene our annual Industry Roundtable Meeting, featuring special guest speaker Amy Comstock-Rick from the FDA, as well as our Scientific Symposium focused on off-label drug use in the absence of approved treatments for the rare diseases we represent. Together, these gatherings reflect our ongoing commitment to our mission.
This season also brings both reflection and transition. After 30 years of extraordinary service, Diana departed from NTSAD. Her compassion and unwavering commitment to families have shaped this organization in lasting ways, and her impact will be felt for years to come.
As we move into May, we also hold space for the full spectrum of experiences within our community—honoring Mother’s Day while recognizing Bereaved Mother’s Day and the profound love and loss they represent. Our thoughts are with all who are celebrating, remembering, and navigating this time in their own way.
Warm regards,
| | Join the Q&A for Families with the NTSAD Research Team (AFC Research Summary Booklet) | | |
Register for an upcoming Zoom discussion with NTSAD’s research team, Valerie Greger, PhD, and Cynthia Perreault-Micale, PhD. This live Q&A session will cover the research updates featured in the summary booklet distributed to Annual Family Conference attendees last week, as well as key highlights from the GM1, GM2, and Canavan breakout sessions presented during Research Day at the Conference.
All are welcome to join this informative session on May 21 from 11:00 AM to 12:00 PM ET.
Register for the Zoom Meeting Here
| | NTSAD Awards Two New Research Grants | | |
At last week’s Annual Family Conference, NTSAD announced two new research grant awards. Dr. Yanhong Shi from the Beckman Research Institute of City of Hope was awarded a grant for her work on cell therapy for Canavan disease. Her proposal is very exciting because her research opens up a completely new path to a treatment for Canavan disease and is fairly close to entering clinical testing. The Canavan Foundation is contributing to this award.
The second grant, co-funded by the Cure Tay-Sachs Foundation, was awarded to Dr. Carla da Hora and Dr. Florian Eichler from Massachusetts General Hospital in Boston for creating the first Human GM2 Variant Database that includes biochemical data and, unlike any other GM2 database, clinical information on combinations of variants (genotypes). This work is critically important, particularly in light of rapid progress in designing genetic medicines and increasing efforts to screen newborns with genetic testing.
| | NTSAD’s Industry Roundtable Hosts Special Guest Speaker | | |
Amy Comstock-Rick, the Director of the FDA’s Rare Disease Innovation Hub, was the featured speaker at NTSAD’s recent Industry Roundtable Meeting on April 29.
More than 30 Industry Roundtable members and guests participated in this informative event, which preceded our Annual Family Conference.
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | Imagine & Believe 2026 Honoree | | |
Each year in November, the NTSAD community gathers for our annual signature fundraiser, Imagine & Believe, to envision a world with effective treatments for Tay-Sachs, Canavan, GM1, and Sandhoff diseases. At the event, NTSAD honors a person or group who has made a significant impact on our rare disease community.
This year, NTSAD is excited to announce that we will be honoring Dr. Florian Eichler. Dr. Eichler is a Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. As a Director of the Leukodystrophy Service and Director of the Center for Rare Neurological Diseases (CRND) at MGH, he aims to advance care and treatment for devastating neurogenetic conditions, including Canavan, Tay-Sachs, and Sandhoff diseases.
His many accomplishments include research that discovered the mechanism underlying a rare neurologic disorder, hereditary sensory neuropathy type 1, and subsequently led to a first clinical trial of substrate supplementation therapy for patients with this disease. A pioneer in gene therapy for neurodegenerative disorders, his group advanced several gene therapy trials into the clinic. He is an investigator in the ongoing CANaspire gene therapy in Canavan patients and the recently concluded phase 1/2 dual vector gene therapy trial for GM2 gangliosidosis.
Dr. Eichler is not only a distinguished scientist and clinician who received numerous honors for his work, he is also a dedicated advocate for his patients. Many members of the NTSAD community are in his care and will attest to his warmth and compassion. Dr. Eichler has a 20-year connection with NTSAD; he serves on NTSAD's Scientific Advisory Council and is an active participant in many initiatives, including the LOTSS Think Tank and the planned GM2 patient registry. He is a mentor for scientists and clinicians, many of whom he has introduced to NTSAD and who have since become part of our community.
NTSAD looks forward to recognizing Dr. Eichler at Imagine & Believe on Thursday, November 12, 2026, at the Hyatt Regency Boston/Cambridge in Cambridge, MA! Please mark your calendar and plan to join us for this very special event.
| | Share Your Rare Story Through Art! | | |
Calling all creatives! SketchNF has invited the NTSAD community to participate in their rare disease art show in New York City! SketchNF is a nonprofit that connects and uplift children and families living with rare conditions through art.
They are asking for submissions of original artwork from people of all ages living with a rare disease, as well as their families, advocates, and providers. The deadline to submit art is June 1. The show opens on July 7 at the Positive Exposure Gallery in NYC.
More information can be found in the flyer, and by visiting both sketchnf.org and raresquare.org.
| | Family Support: 48th Annual Family Conference | | What a Wonderful 48th Annual Family Conference! | | |
NTSAD's 48th Annual Family Conference was held last week at the Hyatt Regency in Reston, VA.
Last week 300 families, individuals, researchers, clinicians, and supporters came together for a weekend of research, advocacy, and support. Including:
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76 affected families from eight different countries, including 17 adults living with late onset and 32 bereaved families
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27 affected children in Camps Snuggle and Active
- 20 siblings in Camp Sunshine
- 13 siblings in the Youth Group
Additionally, we offered:
- 28 sessions on research, support, advocacy, bereavement, and more
- Awards for the Power of One and Above and Beyond to Yasmina Halim and Kaitlin Gillett-Poirier, respectively
- Amazing offsite Youth Retreats included a tour of the U.S. Capitol Building!
- Industry-led Focus Group
- Totally Rad 80s Glow Party
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Commemoration Ceremony honoring those we have lost too soon
- Complimentary photo portrait sessions for all families and individuals
The 2026 Annual Family Conference was a wonderful success. We remain grateful to everyone who participated, both near and far. We couldn’t have done it without you. Thank you!
| | Share Your Conference Experience! | | |
Thanks to everyone who attended the 48th Annual Family Conference in Reston, VA. As always, we strive to support our rare community to the best of our ability, and to improve the conference each and every year. If you joined us in Reston, VA, please take a moment to fill out our feedback survey so we can better understand your conference experience when we plan for next year. Your individual feedback will remain confidential with the NTSAD staff and board.
This survey will only remain open for the next two weeks, so please respond by May 17, 2026. We encourage each person who attended to fill it out separately, specific to their own attendance experience.
Survey Link for individuals or family members who attended the conference
Survey Link for researchers, scientists, clinicians, or members of industry who attended the conference
| | Save the Date for our 49th Annual Family Conference | | |
Next year, the NTSAD Annual Family Conference will take place at the Chicago Oak Brook Hills Resort and Conference Center in Oak Brook Hills, IL.
Help us create our 2027 theme! The yearly conference theme is used in the conference logo design, printed on conference materials, and incorporated into the activities in Camps Snuggle and Active. If you have an idea for a Chicago-centered theme for the 49th Annual Family Conference, submit it to becky@ntsad.org.
Mark your calendars and plan to join us from April 8 to April 11, 2027.
| | Support Spanning the Decades | | |
This month’s Mission Moment comes to us from the unforgettable 48th Annual Family Conference with a night that truly lit up our community: the 80s Glow Party.
On Friday evening, families, caregivers, and individuals came together not just to dance, but to celebrate the power of connection. Surrounded by glow sticks and slap bracelets, with ice cream sundaes in hand, attendees laughed and danced together to their favorite throw-back tunes. Moments like these are at the heart of our mission. They remind us that community is powerful, that shared experiences bring comfort, and that even in the face of rare disease, joy and connection can shine brightly.
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Staff
Kathy Flynn, CEO
Becky Benson, Family Support & Engagement Manager
Erin Demers, Development Manager
Valerie Greger, PhD, Research Director
Cynthia Perreault-Micale, PhD, Research Manager
Adie Woolf, Development Assistant
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