Value Proposition
First in class patient-derived biological tools for investigation of SCA12, a rare neurodegenerative disease with no known cure.
Unmet Need
Spinocerebellar ataxia type 12 (SCA12) is a rare neurodegenerative disease that affects the cerebellum, commonly resulting in upper limb tremors and muscle spasms, with some patients reporting a disruption of muscular coordination that affects their mobility as well as neuropsychiatric symptoms [1]. Most studies are done with neuroimaging of patients or tissue samples taken postmortem; due to the rarity of this disease, only one postmortem exam of an SCA12 patient has been published as of 2020 [2]. Therefore, there is a strong need for tools to study this disease.
Technology Description
Researchers at Johns Hopkins have generated new tools to study SCA12. First, they have generated and characterized patient-derived fibroblasts and induced pluripotent stem cell (iPSC) lines from three different human SCA12 patients. Furthermore, they have developed antibodies targeting poly-Serine (polySer) aggregates characteristic of SCA12 to aid in the detection of these aggregates in cell or tissue samples by western blotting and immunocytochemistry analysis.
Stage of Development
Cells and antibodies have been generated and characterized.
Publications
1) Li, P.P., Margolis, R.L. Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs. Sci Rep 11, 9865 (2021). https://doi.org/10.1038/s41598-021-89312-2
2) Feng H, Li Q, Margolis RL, Li PP. Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing. Stem Cell Research. 2021 May 1;53:102346.
3) Zhou C, Liu HB, Jahanbakhsh F, Deng L, Wu B, Ying M, Margolis RL, Li PP. Bidirectional transcription at the PPP2R2B gene locus in spinocerebellar ataxia type 12. Movement Disorders. 2023 Dec;38(12):2230-40.
