Literature DB >> 35224820

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

J Michael Harnish1,2, Lucian Li2,3, Sanja Rogic4,5, Guillaume Poirier-Morency4,5, Seon-Young Kim2,3, Kym M Boycott6, Michael F Wangler1,2,7, Hugo J Bellen1,2,7,8, Philip Hieter4, Paul Pavlidis4,5, Zhandong Liu2,3,9, Shinya Yamamoto1,2,7,8.   

Abstract

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.
© 2022 Wiley Periodicals LLC.

Entities:  

Keywords:  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)

Mesh:

Year:  2022        PMID: 35224820      PMCID: PMC9133126          DOI: 10.1002/humu.24364

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.700


  32 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  The Undiagnosed Diseases Network International: Five years and more!

Authors:  D Taruscio; G Baynam; H Cederroth; S C Groft; E W Klee; K Kosaki; P Lasko; B Melegh; O Riess; M Salvatore; W A Gahl
Journal:  Mol Genet Metab       Date:  2020-01-17       Impact factor: 4.797

3.  Deep resequencing reveals excess rare recent variants consistent with explosive population growth.

Authors:  Alex Coventry; Lara M Bull-Otterson; Xiaoming Liu; Andrew G Clark; Taylor J Maxwell; Jacy Crosby; James E Hixson; Thomas J Rea; Donna M Muzny; Lora R Lewis; David A Wheeler; Aniko Sabo; Christine Lusk; Kenneth G Weiss; Humeira Akbar; Andrew Cree; Alicia C Hawes; Irene Newsham; Robin T Varghese; Donna Villasana; Shannon Gross; Vandita Joshi; Jireh Santibanez; Margaret Morgan; Kyle Chang; Walker Hale Iv; Alan R Templeton; Eric Boerwinkle; Richard Gibbs; Charles F Sing
Journal:  Nat Commun       Date:  2010-11-30       Impact factor: 14.919

4.  In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

Authors:  J Michael Harnish; Samantha L Deal; Hsiao-Tuan Chao; Michael F Wangler; Shinya Yamamoto
Journal:  J Vis Exp       Date:  2019-08-20       Impact factor: 1.355

5.  The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Authors:  William A Gahl; John J Mulvihill; Camilo Toro; Thomas C Markello; Anastasia L Wise; Rachel B Ramoni; David R Adams; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2016-01-22       Impact factor: 4.797

6.  Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

Authors:  Iris E Jansen; Jeanne E Savage; Stephan Ripke; Ole A Andreassen; Danielle Posthuma; Kyoko Watanabe; Julien Bryois; Dylan M Williams; Stacy Steinberg; Julia Sealock; Ida K Karlsson; Sara Hägg; Lavinia Athanasiu; Nicola Voyle; Petroula Proitsi; Aree Witoelar; Sven Stringer; Dag Aarsland; Ina S Almdahl; Fred Andersen; Sverre Bergh; Francesco Bettella; Sigurbjorn Bjornsson; Anne Brækhus; Geir Bråthen; Christiaan de Leeuw; Rahul S Desikan; Srdjan Djurovic; Logan Dumitrescu; Tormod Fladby; Timothy J Hohman; Palmi V Jonsson; Steven J Kiddle; Arvid Rongve; Ingvild Saltvedt; Sigrid B Sando; Geir Selbæk; Maryam Shoai; Nathan G Skene; Jon Snaedal; Eystein Stordal; Ingun D Ulstein; Yunpeng Wang; Linda R White; John Hardy; Jens Hjerling-Leffler; Patrick F Sullivan; Wiesje M van der Flier; Richard Dobson; Lea K Davis; Hreinn Stefansson; Kari Stefansson; Nancy L Pedersen
Journal:  Nat Genet       Date:  2019-01-07       Impact factor: 38.330

7.  Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

Authors:  Jessica X Chong; Joon-Ho Yu; Peter Lorentzen; Karen M Park; Seema M Jamal; Holly K Tabor; Anita Rauch; Margarita Sifuentes Saenz; Eugen Boltshauser; Karynne E Patterson; Deborah A Nickerson; Michael J Bamshad
Journal:  Genet Med       Date:  2015-12-10       Impact factor: 8.822

8.  Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Authors:  Kathryn L Post; Manuel Belmadani; Payel Ganguly; Fabian Meili; Riki Dingwall; Troy A McDiarmid; Warren M Meyers; Caitlin Herrington; Barry P Young; Daniel B Callaghan; Sanja Rogic; Matthew Edwards; Ana Niciforovic; Alessandro Cau; Catharine H Rankin; Timothy P O'Connor; Shernaz X Bamji; Christopher J R Loewen; Douglas W Allan; Paul Pavlidis; Kurt Haas
Journal:  Nat Commun       Date:  2020-04-29       Impact factor: 14.919

9.  Identification of common genetic risk variants for autism spectrum disorder.

Authors:  Jakob Grove; Stephan Ripke; Thomas D Als; Manuel Mattheisen; Raymond K Walters; Hyejung Won; Jonatan Pallesen; Esben Agerbo; Ole A Andreassen; Richard Anney; Swapnil Awashti; Rich Belliveau; Francesco Bettella; Joseph D Buxbaum; Jonas Bybjerg-Grauholm; Marie Bækvad-Hansen; Felecia Cerrato; Kimberly Chambert; Jane H Christensen; Claire Churchhouse; Karin Dellenvall; Ditte Demontis; Silvia De Rubeis; Bernie Devlin; Srdjan Djurovic; Ashley L Dumont; Jacqueline I Goldstein; Christine S Hansen; Mads Engel Hauberg; Mads V Hollegaard; Sigrun Hope; Daniel P Howrigan; Hailiang Huang; Christina M Hultman; Lambertus Klei; Julian Maller; Joanna Martin; Alicia R Martin; Jennifer L Moran; Mette Nyegaard; Terje Nærland; Duncan S Palmer; Aarno Palotie; Carsten Bøcker Pedersen; Marianne Giørtz Pedersen; Timothy dPoterba; Jesper Buchhave Poulsen; Beate St Pourcain; Per Qvist; Karola Rehnström; Abraham Reichenberg; Jennifer Reichert; Elise B Robinson; Kathryn Roeder; Panos Roussos; Evald Saemundsen; Sven Sandin; F Kyle Satterstrom; George Davey Smith; Hreinn Stefansson; Stacy Steinberg; Christine R Stevens; Patrick F Sullivan; Patrick Turley; G Bragi Walters; Xinyi Xu; Kari Stefansson; Daniel H Geschwind; Merete Nordentoft; David M Hougaard; Thomas Werge; Ole Mors; Preben Bo Mortensen; Benjamin M Neale; Mark J Daly; Anders D Børglum
Journal:  Nat Genet       Date:  2019-02-25       Impact factor: 38.330

10.  The Quest for Orthologs benchmark service and consensus calls in 2020.

Authors:  Adrian M Altenhoff; Javier Garrayo-Ventas; Salvatore Cosentino; David Emms; Natasha M Glover; Ana Hernández-Plaza; Yannis Nevers; Vicky Sundesha; Damian Szklarczyk; José M Fernández; Laia Codó; The Quest For Orthologs Consortium; Josep Ll Gelpi; Jaime Huerta-Cepas; Wataru Iwasaki; Steven Kelly; Odile Lecompte; Matthieu Muffato; Maria J Martin; Salvador Capella-Gutierrez; Paul D Thomas; Erik Sonnhammer; Christophe Dessimoz
Journal:  Nucleic Acids Res       Date:  2020-07-02       Impact factor: 16.971

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  4 in total

1.  Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.

Authors:  Kym M Boycott; Danielle R Azzariti; Ada Hamosh; Heidi L Rehm
Journal:  Hum Mutat       Date:  2022-05-10       Impact factor: 4.700

2.  Role of Drosophila in Human Disease Research 2.0.

Authors:  Masamitsu Yamaguchi; Shinya Yamamoto
Journal:  Int J Mol Sci       Date:  2022-04-11       Impact factor: 5.923

3.  The impact of GeneMatcher on international data sharing and collaboration.

Authors:  Ada Hamosh; Elizabeth Wohler; Renan Martin; Sean Griffith; Eliete da S Rodrigues; Corina Antonescu; Kimberly F Doheny; David Valle; Nara Sobreira
Journal:  Hum Mutat       Date:  2022-03-28       Impact factor: 4.700

4.  Promoting validation and cross-phylogenetic integration in model organism research.

Authors:  Keith C Cheng; Rebecca D Burdine; Mary E Dickinson; Stephen C Ekker; Alex Y Lin; K C Kent Lloyd; Cathleen M Lutz; Calum A MacRae; John H Morrison; David H O'Connor; John H Postlethwait; Crystal D Rogers; Susan Sanchez; Julie H Simpson; William S Talbot; Douglas C Wallace; Jill M Weimer; Hugo J Bellen
Journal:  Dis Model Mech       Date:  2022-09-20       Impact factor: 5.732

  4 in total

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