Cure GM1 is thankful for the collaboration of the GM1 community, other advocacy groups, biotechs, and academic groups. This page includes foundation-led publications and collaborative projects and publications with biotechs and academic groups. Cure GM1 or a person associated with Cure GM1 is credited as an author or there is an acknowledgement for our collaboration.
WORLD Symposium Abstracts and Posters
- WORLD Symposium 2026. Cure GM1 Foundation abstracts and posters.
- WORLD Symposium 2025. Cure GM1 Foundation abstracts and posters.
- Brown JR, Glass K, Glass CA, Davis C, Lutz C, Waggoner C. Development and validation of enzyme replacement therapy for GM1 gangliosidosis. Mol Genet Metab. 2023;138(2):107037. doi:10.1016/j.ymgme.2022.107037. WORLD Symposium 2023 abstract. Poster, PDF.
- Davis C, Lowell E, Presa M, Ray S, Zuberi A, Lutz C. Natural history of GM1 gangliosidosis mouse models generated by The Jackson Laboratory Rare and Orphan Disease Center. Mol Genet Metab. 2020;129(2):S46. doi:10.1016/j.ymgme.2019.11.100. WORLD Symposium 2020 abstract.
Patient-Led Initiatives
- Bingaman A, Waggoner C, Andrews SM, et al. GM1-gangliosidosis: The caregivers’ assessments of symptom impact and most important symptoms to treat. Am J Med Genet A. 2023;191(2):408-423. doi:10.1002/ajmg.a.63038. Free full text: PMC10107815.
- Cure GM1 Foundation. GM1 Gangliosidosis: Voice of the Patient Report. 2023. PDF.
Qualitative Studies
- Rodriguez MB, Pulikottil-Jacob R, Heuer K, et al. Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. Orphanet J Rare Dis. 2025;20(1):597. doi:10.1186/s13023-025-04030-6. Free full text: PMC12632087.
- Ng-Mak D, Rodriguez MB, Heuer K, et al. Motor function limitations and impacts among patients with GM1 and GM2 gangliosidoses in the United States: a qualitative study. Mol Genet Metab. 2024;141(4):108236. doi:10.1016/j.ymgme.2024.108236.
Newborn Screening
- Su P, Khaledi H, Waggoner C, Gelb MH. Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry. J Inherit Metab Dis. 2021;44(1):264-271. doi:10.1002/jimd.12269.
- Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, et al. Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. Mol Genet Metab. 2023;140(1-2):107632. doi:10.1016/j.ymgme.2023.107632. Free full text: PMC10748792.
- Kelly NR, Orsini JJ, Goldenberg AJ, et al. ScreenPlus: a comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2024;38:101037. doi:10.1016/j.ymgmr.2023.101037. Free full text: PMC10761901.