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ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Harnish, J Michael; Li, Lucian; Rogic, Sanja; Poirier-Morency, Guillaume; Kim, Seon-Young; Boycott, Kym M; Wangler, Michael F; Bellen, Hugo J; Hieter, Philip; Pavlidis, Paul; Liu, Zhandong; Yamamoto, Shinya.
Affiliation
  • Harnish JM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Li L; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.
  • Rogic S; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.
  • Poirier-Morency G; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, Texas, USA.
  • Kim SY; Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.
  • Boycott KM; Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada.
  • Wangler MF; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
  • Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, USA.
  • Hieter P; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, Texas, USA.
  • Liu Z; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
Hum Mutat ; 43(6): 743-759, 2022 06.
Article in En | MEDLINE | ID: mdl-35224820
Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although 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 (affected individuals) 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 nonprofit 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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United States Country of publication: United States