ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Matchmaker Exchange (MME)
Rare Diseases Models and Mechanisms (RDMM) Network
Undiagnosed Diseases Network (UDN)
collaboration
functional studies
matchmaking
model organisms
rare diseases
undiagnosed diseases
variants of unknown significance (VUS)
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
06 2022
06 2022
Historique:
revised:
12
02
2022
received:
30
09
2021
accepted:
23
02
2022
pubmed:
1
3
2022
medline:
25
5
2022
entrez:
28
2
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35224820
doi: 10.1002/humu.24364
pmc: PMC9133126
mid: NIHMS1785744
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
743-759Subventions
Organisme : NIH HHS
ID : U54NS093793
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : CIHR
ID : RCN-137793
Pays : Canada
Organisme : NINDS NIH HHS
ID : U54 NS093793
Pays : United States
Organisme : CIHR
ID : RCN-160422
Pays : Canada
Informations de copyright
© 2022 Wiley Periodicals LLC.
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