Research Tools & Data
In an effort to accelerate preclinical research to drive projects toward translation to the clinic, we are actively supporting multiple projects to build the necessary research tools and infrastructure.
See our strategy and roadmap here, and available options below.
Mouse Models for SDS
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We have an active collaboration with The Jackson Laboratory to develop a humanized mouse model that includes the human SBDS gene, carrying the most common 258+2T>C "splice site" mutation. The original strategy resulted in embryonic lethality, and we are currently exploring new strategies and refinements. Results are expected in 2026. For questions, please contact us at connect@SDSAlliance.
More information at our 2024 SDS POPS presentation, and Mouse model development launched, meet the development team, phase 1 complete
SDS Cell Biobank
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We have established a cell biobank at the Coriell Institute to collect and distribute patient-derived cell lines. Currently, they have LCLs, and we hope to add fibroblast this year as well. Please contact us at connect@SDSAlliance for details.
More information at SDS Cell Biobank pilot complete, SDS Cell Biobank launched (soon)
Fibroblast
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Patient-derived fibroblasts are available from our collaborators at the NIH. Please contact us at connect@SDSAlliance for details.
iPSCs:
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We launched an iPSC development project in late 2022 to develop three iPSC cell lines in collaboration with the Coriell Institute and the UPenn Orphan Disease Center. The first line is expected to be available in Q3 2023. Additionally, we are working on developing isogenic pairs, which will become available in late 2023. Please contact us at connect@SDSAlliance for details.
More information at iPSCs development launched
Data
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Our survey platform, called SDS-GPS (Global Patient Survey and Collaboration Program), launched in 2024. We are very interested in collaborations. We are also in close contact with many international clinical registries and would be happy to make introductions. Further. we successfully advocated for an ICD-10 code for SDS in the US, giving SDS visibility in the Medical Records data. Visit our ICD code resource page. Please reach out to us at connect@SDSAlliance.org.