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Overview
The National Tay-Sachs & Allied Diseases Association (NTSAD) is dedicated to finding effective treatments and—ultimately—a cure for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
To achieve this goal, NTSAD fosters collaboration within the scientific and medical community, supports ground-breaking research, provides information for researchers and clinicians, and connects researchers with industry partners.
Our current strategic focus areas for research are:
- Carrier, prenatal, and newborn screening
- Patient registry
- Clinical trial readiness
- Advancing therapeutic approaches, including genetic medicine
Research Initiative Program
NTSAD provides funding for research projects studying Tay-Sachs, Canavan, GM1, and Sandhoff diseases. For more information, please visit Grant Opportunities.
Scientific Advisory Council
NTSAD research is informed by our Scientific Advisory Council (SAC), which includes basic researchers and clinicians with expertise in neurology, therapeutic development, clinical trials, genetic medicine, psychiatry, biomedical research, and bioethics. The role of the SAC is to ensure that NTSAD’s research strategy and investments align with NTSAD’s mission to advance research that leads to effective treatments for Tay-Sachs, Canavan, GM1, and Sandhoff diseases and to serve as a resource for the NTSAD community.
SAC members contribute their respective expertise to provide updates and context to new research developments and provide professional guidance to NTSAD. Members examine the progress, suggest new initiatives, and leverage their professional networks to recruit additional individuals to provide expertise to support initiatives. In addition, SAC members participate in NTSAD’s Research Initiative grant program by reviewing and evaluating applications and serve on working groups.
Research Initiatives and Working Groups
Research initiatives and working groups are formed as our community recognizes a specific need for action. This list is modified as new projects are identified or completed.
Late Onset Tay-Sachs and Sandhoff (LOTSS) Think Tank
The LOTSS Think Tank brings together researchers, clinicians, industry representatives, and experts to accelerate finding effective treatments for LOTSS.
Alexis Buryk, mother of twin daughters who have late onset Tay-Sachs disease, inspired the creation of the LOTSS Think Tank. She established the Katie & Allie Buryk Research Fund that – together with NTSAD – sponsors the annual Think Tank meeting.
An example of the LOTSS Think Tank’s work may be found here.
Canavan Think Tank (A New Initiative Coming Soon!)
Carrier, Prenatal, and Newborn Screening Initiatives
The goals of NTSAD’s carrier, prenatal, and newborn screening initiatives are to raise awareness and advocate for comprehensive screening for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases. To support these goals, we continually monitor the carrier and diagnostic screening landscape so we can keep our community informed about important developments.
Historically, the genes associated with Tay-Sachs, Canavan, GM1, and Sandhoff diseases have not always been included in screening protocols because of their low frequency. Even when these conditions are included, all relevant variants may not be captured. Our research team actively tracks company practices and reaches out to those whose panels omit the diseases represented by NTSAD to advocate for their inclusion.
Biomarker Working Group
The primary goal of the GM1 and GM2 Biomarker Working Group is to secure FDA recognition of GM1 and GM2 ganglioside levels in cerebrospinal fluid as clinically relevant biomarkers for GM1 and GM2 gangliosidosis, respectively—thereby supporting the potential for accelerated approval of future therapies. The working group is composed of leading researchers and clinicians with deep expertise in these disorders.
Other Resources
Please visit our Resources for Professionals. This contains a series of documents aimed at supporting researchers, clinicians, and health care professionals. Multiple categories of documents are available, including:
- Understanding Therapeutic Approaches
- Variant (Mutation) Database
- Off-Label Drug Information
- Treatment of Psychiatric Symptoms in Late-Onset GM2 Gangliosidosis
The list of resources is periodically updated, as new information becomes available.
To access current literature on Tay-Sachs, Canavan, GM1 and Sandhoff diseases, please see our Curated Literature Collection.
