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

Library

Title
2022-12 – Community News
1 file(s) 53 downloads 		Community News December 1, 2022 Download
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 Download
2022-11 – Community News
1 file(s) 43 downloads 		Community News November 1, 2022 Download
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study.
1 file(s) 322 downloads 		General October 21, 2022 Download
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
1 file(s) 218 downloads 		GM2 Gangliosidoses August 4, 2022 Download
The pathogenesis of, and pharmacological treatment for, Canavan disease
1 file(s) 280 downloads 		Canavan Disease May 27, 2022 Download
AAV gene therapy for Tay-Sachs disease
1 file(s) 389 downloads 		GM2 Gangliosidoses February 10, 2022 Download
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.
1 file(s) 591 downloads 		GM2 Gangliosidoses November 27, 2021 Download
GM1 Gangliosidosis-A Mini-Review.
1 file(s) 176 downloads 		GM1 Gangliosidosis September 23, 2021 Download
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 Download
Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.
1 file(s) 625 downloads 		Canavan Disease April 23, 2021 Download
GM1 Gangliosidosis: Mechanisms and Management.
1 file(s) 441 downloads 		GM1 Gangliosidosis April 9, 2021 Download
Late Onset GM2 Gangliosidosis – Patient Listening Session
1 file(s) 51 downloads 		GM2 Gangliosidoses March 5, 2021 Download
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
1 file(s) 261 downloads 		General November 12, 2020 Download
Grief Reaction Check-in
1 file(s) 194 downloads 		Family Support Resources October 8, 2020 Download
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 Download
Living with Late-Onset Guide – Tay-Sachs, Sandhoff and GM1
1 file(s) 45 downloads 		Family Support Resources October 2, 2020 Download
Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock.
1 file(s) 250 downloads 		General September 18, 2020 Download
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
1 file(s) 240 downloads 		GM2 Gangliosidoses August 27, 2020 Download
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 Download
Natural History of Adult Patients with GM2 Gangliosidosis.
1 file(s) 64 downloads 		GM2 Gangliosidoses February 7, 2020 Download
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
1 file(s) 210 downloads 		GM1 Gangliosidosis December 30, 2019 Download
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 Download
Genetics and Therapies for GM2 Gangliosidosis.
1 file(s) 198 downloads 		GM2 Gangliosidoses December 15, 2018 Download
New Approaches to Tay-Sachs Disease Therapy.
1 file(s) 411 downloads 		GM2 Gangliosidoses November 20, 2018 Download
Care Tips – G-Tubes from A to Z
1 file(s) 47 downloads 		Family Support Resources December 1, 2017 Download
Care Tips – Motion and Massage
1 file(s) 71 downloads 		Family Support Resources October 25, 2017 Download
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 Download
Philosophy of Care Plan – template
1 file(s) 234 downloads 		Family Support Resources January 24, 2017 Download
Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.
1 file(s) 277 downloads 		Canavan Disease September 30, 2016 Download
Global Genes Toolkit – Bringing Rare Disease to Capitol Hill
1 file(s) 48 downloads 		Advocacy September 26, 2014 Download
Home Care Manual
1 file(s) 63 downloads 		Annual Family Conference June 3, 2014 Download
Caring for Children Who Have Severe Neurological Impairment
1 file(s) 727 downloads 		Annual Family Conference June 3, 2014 Download
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 Download
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
1 file(s) 389 downloads 		Canavan Disease October 5, 1993 Download

    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.