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.


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