Domenica Taruscio

TL;DR: The current and future bottlenecks to gene discovery are reviewed and strategies for enabling progress are suggested for enabling precision medicine for this patient population.

TL;DR: RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.

TL;DR: This poster presents a poster presented at the 2016 U.S.L.A. Conference of the International Rare Diseases Research Consortium (IRDiRC) on apoptosis-guided cell reprograming of the immune system to treat central nervous system disorders.

TL;DR: A list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries, includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit.

TL;DR: How the TREAT‐NMD national patient registries for DMD were established and how successful they have been at fostering collaboration between academia, patient organizations, and industry are described are described.