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Shwachman-Diamond Syndrome Alliance

The Shwachman-Diamond Syndrome Alliance was established in 2020 by Dr. Eszter Hars, who is a molecular biology Ph.D., a biotech entrepreneur, and the mother of a 7-year-old girl with Shwachman-Diamond syndrome (SDS). Thanks to its founder’s professional background, the organization understands that research and therapy development is a complicated process that can only be achieved effectively with collaboration and coordination. The organization employs specific strategies to support existing SDS researchers, provide coordination, promote collaboration, and recruit new experts to advance SDS research and therapy development. Within a year of its inception, the Shwachman-Diamond Syndrome Alliance has initiated a project with the Jackson Laboratory in collaboration with SDS researchers to develop a new mouse model that could potentially recapitulate the genetic mutation, ribosomal stress, and symptoms of SDS. If successful, this model could potentially enable the development of therapies that correct SDS at the genetic, proteomic, and phenotypic levels, essentially curing SDS. The organization is actively working on supporting existing researchers, attracting new researchers to work on SDS, and engaging patients to support and participate in SDS research.


Disclaimer: The information contained in this page is provided by the partnering patient organization for informational purposes only.  The 40 Percent Inc. does not warrant its completeness or accuracy, and it should not be construed as an endorsement by The 40 Percent Inc. or relied upon as a basis for your support for the partnering patient organization.  The information is subject to change without notice.

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