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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.

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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 with the most common, 258+2T>C "splice site" mutation. The mice are expected to be available to order from the Jackson Laboratory in Q3-Q4 of 2023. Please contact us at connect@SDSAlliance for details.

More information at  Mouse model development launched, meet the development team, phase 1 complete

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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.

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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

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Data

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Our survey platform is slated to launch in Q3-4 2023 and we are very interested in collaborations. We are also in close contact with many international clinical registries and would be happy to make introductions. Please reach out to us at connect@SDSAlliance.org.

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Shwachman-Diamond Syndrome Alliance Inc.

Social:

Email: connect@SDSAlliance.org

Phone: +1-617-329-1838

Mail: PO Box 2441, Woburn, MA 01888

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The Shwachman-Diamond Syndrome Alliance (SDS Alliance) is a 501(c)(3) nonprofit organization dedicated to building a world where Shwachman-Diamond Syndrome (SDS) is a manageable condition and all patients and their families can thrive - through driving research and engaging in advocacy and education.

 

The SDS Alliance brings together patient families, researchers, clinicians, and other diverse stakeholders to better understand, diagnose, and treat this devastating cancer predisposition genetic disorder. The SDS Alliance was launched in 2020 by the parents of a child with SDS, who are biomedical researchers and entrepreneurs.

 

The SDS Alliance’s leadership and scientific & medical advisors are experienced clinicians and researchers focused on combining the patient-family perspective with solutions based on the best available scientific evidence.

 

Families from around the world are fundamental to accelerating the SDS Alliance’s mission to improve outcomes for all SDS patients, especially populations from diverse backgrounds who don’t have possible stem-cell donor matches. The SDS Alliance intentionally elevates the voices of individuals from diverse backgrounds, the LGBTQ+ community, people with disabilities, and marginalized groups, as they bring critical insight and advance the SDS Alliance’s mission.

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