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ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Authors :
Guillaume Poirier-Morency
Stephanie S. Kim
Harnish Jm
Hugo J. Bellen
Li L
Sanja Rogic
Kym M. Boycott
Paul Pavlidis
Zhandong Liu
Michael F. Wangler
Shinya Yamamoto
Philip Hieter
Publication Year :
2021
Publisher :
Cold Spring Harbor Laboratory, 2021.

Abstract

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases, and has played a significant role in rare disease gene discovery. While this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients can help resolve such medical mysteries, and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including non-profit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.

Details

Database :
OpenAIRE
Accession number :
edsair.doi...........e7babef85fab3ea04d07db5856d36577
Full Text :
https://doi.org/10.1101/2021.09.30.462504