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
BOD – February 5, 2024 – Meeting Minutes
1 file(s) download
Board of Directors February 23, 2024
2022-12 – Community News
1 file(s) 255 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) 1063 downloads
General November 5, 2022
2022-11 – Community News
1 file(s) 193 downloads
Community News November 1, 2022
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study.
1 file(s) 1202 downloads
General October 21, 2022
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
1 file(s) 832 downloads
GM2 Gangliosidoses August 4, 2022
The pathogenesis of, and pharmacological treatment for, Canavan disease
1 file(s) 1388 downloads
Canavan Disease May 27, 2022
AAV gene therapy for Tay-Sachs disease
1 file(s) 977 downloads
GM2 Gangliosidoses February 10, 2022
The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.
1 file(s) 1881 downloads
GM2 Gangliosidoses November 27, 2021
GM1 Gangliosidosis-A Mini-Review.
1 file(s) 923 downloads
GM1 Gangliosidosis September 23, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
1 file(s) 1046 downloads
Canavan Disease May 19, 2021
Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.
1 file(s) 1557 downloads
Canavan Disease April 23, 2021
GM1 Gangliosidosis: Mechanisms and Management.
1 file(s) 1342 downloads
GM1 Gangliosidosis April 9, 2021
Late Onset GM2 Gangliosidosis – Patient Listening Session
1 file(s) 264 downloads
GM2 Gangliosidoses March 5, 2021
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
1 file(s) 841 downloads
General November 12, 2020
Grief Reaction Check-in
1 file(s) 939 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) 1222 downloads
General October 6, 2020
Living with Late-Onset Guide – Tay-Sachs, Sandhoff and GM1
1 file(s) 269 downloads
Family Support Resources October 2, 2020
Gene Therapy for Neurodegenerative Diseases: Slowing Down the Ticking Clock.
1 file(s) 1691 downloads
General September 18, 2020
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
1 file(s) 941 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) 699 downloads
GM2 Gangliosidoses April 15, 2020
Natural History of Adult Patients with GM2 Gangliosidosis.
1 file(s) 708 downloads
GM2 Gangliosidoses February 7, 2020
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
1 file(s) 841 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) 1109 downloads
GM2 Gangliosidoses July 10, 2019
Genetics and Therapies for GM2 Gangliosidosis.
1 file(s) 964 downloads
GM2 Gangliosidoses December 15, 2018
New Approaches to Tay-Sachs Disease Therapy.
1 file(s) 1301 downloads
GM2 Gangliosidoses November 20, 2018
Care Tips – G-Tubes from A to Z
1 file(s) 276 downloads
Family Support Resources December 1, 2017
Care Tips – Motion and Massage
1 file(s) 335 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) 1158 downloads
General February 28, 2017
Philosophy of Care Plan – template
1 file(s) 954 downloads
Family Support Resources January 24, 2017
Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.
1 file(s) 954 downloads
Canavan Disease September 30, 2016
Global Genes Toolkit – Bringing Rare Disease to Capitol Hill
1 file(s) 267 downloads
Advocacy September 26, 2014
Home Care Manual
1 file(s) 265 downloads
Annual Family Conference June 3, 2014
Caring for Children Who Have Severe Neurological Impairment
1 file(s) 1158 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) 1352 downloads
GM2 Gangliosidoses October 2, 2006
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
1 file(s) 1330 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.