NTSAD Research Library

Explore Scientific Literature and Other Resources on Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff Diseases.

Over the years, National Tay-Sachs & Allied Diseases (NTSAD) has curated a collection of scientific literature and other resources on Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.

We’ll continue to add to this library so you can stay up to date on developments in the field.

You can search the NTSAD research library for:

  • Scientific articles and posters
  • NTSAD newsletters
  • Advocacy information and toolkits
  • Care guides
  • Infographics
  • Position statements


2022-12 – Community News
1 file(s) 53 downloads
Community News December 1, 2022
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.
1 file(s) 359 downloads
General November 5, 2022
2022-11 – Community News
1 file(s) 43 downloads
Community News November 1, 2022
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study.
1 file(s) 322 downloads
General October 21, 2022
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
1 file(s) 218 downloads
GM2 Gangliosidoses August 4, 2022
The pathogenesis of, and pharmacological treatment for, Canavan disease
1 file(s) 280 downloads
Canavan Disease May 27, 2022
AAV gene therapy for Tay-Sachs disease
1 file(s) 389 downloads
GM2 Gangliosidoses February 10, 2022
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.
1 file(s) 591 downloads
GM2 Gangliosidoses November 27, 2021
GM1 Gangliosidosis-A Mini-Review.
1 file(s) 176 downloads
GM1 Gangliosidosis September 23, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
1 file(s) 211 downloads
Canavan Disease May 19, 2021
Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.
1 file(s) 625 downloads
Canavan Disease April 23, 2021
GM1 Gangliosidosis: Mechanisms and Management.
1 file(s) 441 downloads
GM1 Gangliosidosis April 9, 2021
Late Onset GM2 Gangliosidosis – Patient Listening Session
1 file(s) 51 downloads
GM2 Gangliosidoses March 5, 2021
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
1 file(s) 261 downloads
General November 12, 2020
Grief Reaction Check-in
1 file(s) 194 downloads
Family Support Resources October 8, 2020
Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.
1 file(s) 583 downloads
General October 6, 2020
Living with Late-Onset Guide – Tay-Sachs, Sandhoff and GM1
1 file(s) 45 downloads
Family Support Resources October 2, 2020
Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock.
1 file(s) 250 downloads
General September 18, 2020
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
1 file(s) 240 downloads
GM2 Gangliosidoses August 27, 2020
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
1 file(s) 128 downloads
GM2 Gangliosidoses April 15, 2020
Natural History of Adult Patients with GM2 Gangliosidosis.
1 file(s) 64 downloads
GM2 Gangliosidoses February 7, 2020
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
1 file(s) 210 downloads
GM1 Gangliosidosis December 30, 2019
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
1 file(s) 343 downloads
GM2 Gangliosidoses July 10, 2019
Genetics and Therapies for GM2 Gangliosidosis.
1 file(s) 198 downloads
GM2 Gangliosidoses December 15, 2018
New Approaches to Tay-Sachs Disease Therapy.
1 file(s) 411 downloads
GM2 Gangliosidoses November 20, 2018
Care Tips – G-Tubes from A to Z
1 file(s) 47 downloads
Family Support Resources December 1, 2017
Care Tips – Motion and Massage
1 file(s) 71 downloads
Family Support Resources October 25, 2017
Families and Researchers Collaborate in Advancing Therapy: The Role of NTSAD, Together with Parents, in Driving Toward Treatments.
1 file(s) 391 downloads
General February 28, 2017
Philosophy of Care Plan – template
1 file(s) 234 downloads
Family Support Resources January 24, 2017
Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.
1 file(s) 277 downloads
Canavan Disease September 30, 2016
Global Genes Toolkit – Bringing Rare Disease to Capitol Hill
1 file(s) 48 downloads
Advocacy September 26, 2014
Home Care Manual
1 file(s) 63 downloads
Annual Family Conference June 3, 2014
Caring for Children Who Have Severe Neurological Impairment
1 file(s) 727 downloads
Annual Family Conference June 3, 2014
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
1 file(s) 403 downloads
GM2 Gangliosidoses October 2, 2006
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
1 file(s) 389 downloads
Canavan Disease October 5, 1993

    Submit Your Research

    If you have an article or paper you’d like to submit to the research library, please email Valerie Greger (vgreger@ntsad.org), our Research Director.

    Need Help?

    If you or a family member is affected by a rare disease and you’d like help reviewing scientific literature, please contact our Family Support Team by emailing Diana Jussila (diana@ntsad.org), Director of Family Services, or Becky Benson (becky@ntsad.org), Family Services Manager.