cureCADASIL partnered with Geisinger Health System to present on the ClinGen Data Sharing Program at the Rare Disease Innovation and Partnering Summit in Boston, MA on June 14,2019.
CBI and EBD Group, along with support from the Alliance for Regenerative Medicine, Global Genes and MassBio, hosted this Summit, which is a platform designed to increase chances of therapeutic success for drug developers, patient groups, and investors within the rare disease marketplace.
Sandra Talbird, MSPH (cureCADASIL) and Julianne Savatt, MS, LGC (Geisinger) presented “Patient Data Sharing of Genetic and Health information Informs Genetics Discovery and Fuels Research” to summit attendees. This presentation highlighted the Clin Gen program to support rare disease research and the benefits of the GenomeConnect team at ClinGen working with advocacy groups including cureCADASIL to offer patients a structured way to share their genetic and health information. See the presentation on our website.
For CADASIL, this data sharing program has demonstrated CADASIL patients are an important source of novel genomic data. 33% of variants shared from cureCADASIL participants have not been shared with the ClinGen database before.
