Skip to Main Content

Advertisement

Skip Nav Destination

Rare Disease Translational Research Using Model Systems

Rare diseases cover a wide range of phenotypes, affecting nearly any organ system or biological function. Individually, they might affect only a few people, making them difficult to recognize, diagnose or treat by studying humans alone. This collection, launched on Rare Disease Day 2019, features articles in DMM that show how model systems reveal new gene functions, are used in preclinical studies, and enable the screening of novel and repurposed treatments for rare diseases.

Other subject collections

Special Collection Image
RESEARCH ARTICLE
Mao Mao; Tanav Popli; Marion Jeanne; Kendall Hoff; Saunak Sen; Douglas B. Gould
Doi: 10.1242/dmm.048231
RESEARCH ARTICLE
Karen I. Lange; Sofia Tsiropoulou; Katarzyna Kucharska; Oliver E. Blacque
Doi: 10.1242/dmm.046631
RESEARCH ARTICLE
Alaa Koleilat; Joseph A. Dugdale; Trace A. Christenson; Jeffrey L. Bellah; Aaron M. Lambert; Mark A. Masino; Stephen C. Ekker; Lisa A. Schimmenti
Doi: 10.1242/dmm.043885
RESEARCH ARTICLE
Ian Adams; Tao Yang; Frank M. Longo; David M. Katz
Doi: 10.1242/dmm.044685
RESEARCH ARTICLE
Lena Marie Westermann; Lutz Fleischhauer; Jonas Vogel; Zsuzsa Jenei-Lanzl; Nataniel Floriano Ludwig; Lynn Schau; Fabio Morellini; Anke Baranowsky; Timur A. Yorgan; Giorgia Di Lorenzo; Michaela Schweizer; Bruna de Souza Pinheiro; Nicole Ruas Guarany; Fernanda Sperb-Ludwig; Fernanda Visioli; Thiago Oliveira Silva; Jamie Soul; Gretl Hendrickx; J. Simon Wiegert; Ida V. D. Schwartz; Hauke Clausen-Schaumann; Frank Zaucke; Thorsten Schinke; Sandra Pohl; Tatyana Danyukova
Doi: 10.1242/dmm.046425
RESEARCH ARTICLE
Éva Saskői; Zoltán Hujber; Gábor Nyírő; István Likó; Barbara Mátyási; Gábor Petővári; Katalin Mészáros; Attila L. Kovács; László Patthy; Shreyas Supekar; Hao Fan; Gergely Sváb; László Tretter; Arunabh Sarkar; Aamir Nazir; Anna Sebestyén; Attila Patócs; Anil Mehta; Krisztina Takács-Vellai
Doi: 10.1242/dmm.044925
CLINICAL PUZZLE
Arun-Kumar Kaliya-Perumal; Tom J. Carney; Philip W. Ingham
Doi: 10.1242/dmm.046441
RESEARCH ARTICLE
Roberta Resaz; Davide Cangelosi; Martina Morini; Daniela Segalerba; Luca Mastracci; Federica Grillo; Maria Carla Bosco; Cristina Bottino; Irma Colombo; Alessandra Eva
Doi: 10.1242/dmm.043364
RESEARCH ARTICLE
Sukalp Muzumdar; Michael Koch; Hayley Hiebert; Andreas Bapst; Alessia Gravina; Wilhelm Bloch; Hans-Dietmar Beer; Sabine Werner; Matthias Schäfer
Doi: 10.1242/dmm.042648
RESEARCH ARTICLE
Sofia de Oliveira; Ruth A. Houseright; Benjamin G. Korte; Anna Huttenlocher
Doi: 10.1242/dmm.042564
RESEARCH ARTICLE
Meagan S. Siehr; Cory A. Massey; Jeffrey L. Noebels
Doi: 10.1242/dmm.042515
RESEARCH ARTICLE
Jorge L. Rodriguez-Gil; Dawn E. Watkins-Chow; Laura L. Baxter; Gene Elliot; Ursula L. Harper; Stephen M. Wincovitch; Julia C. Wedel; Arturo A. Incao; Mylene Huebecker; Frederick J. Boehm; William S. Garver; Forbes D. Porter; Karl W. Broman; Frances M. Platt; William J. Pavan
Doi: 10.1242/dmm.042614
RESEARCH ARTICLE
Wedad Fallatah; Tara Smith; Wei Cui; Dushmanthi Jayasinghe; Erminia Di Pietro; Shawn A. Ritchie; Nancy Braverman
Doi: 10.1242/dmm.042499
RESEARCH ARTICLE
Sangeetha Iyer; Feba S. Sam; Nina DiPrimio; Graeme Preston; Jan Verheijen; Kausalya Murthy; Zachary Parton; Hillary Tsang; Jessica Lao; Eva Morava; Ethan O. Perlstein
Doi: 10.1242/dmm.040584
RESEARCH ARTICLE
Sangeetha Iyer; Joshua D. Mast; Hillary Tsang; Tamy P. Rodriguez; Nina DiPrimio; Madeleine Prangley; Feba S. Sam; Zachary Parton; Ethan O. Perlstein
Doi: 10.1242/dmm.040576
RESEARCH ARTICLE
Giusj Monia Pugliese; Federico Salaris; Valentina Palermo; Veronica Marabitti; Nicolò Morina; Alessandro Rosa; Annapaola Franchitto; Pietro Pichierri
Doi: 10.1242/dmm.039487
RESEARCH ARTICLE
Robert A. Brown; Antanina Voit; Manasa P. Srikanth; Julia A. Thayer; Tami J. Kingsbury; Marlene A. Jacobson; Marta M. Lipinski; Ricardo A. Feldman; Ola Awad
Doi: 10.1242/dmm.038596
RESEARCH ARTICLE
Marie Rodinova; Jana Krizova; Hana Stufkova; Bozena Bohuslavova; Georgina Askeland; Zaneta Dosoudilova; Stefan Juhas; Jana Juhasova; Zdenka Ellederova; Jiri Zeman; Lars Eide; Jan Motlik; Hana Hansikova
Doi: 10.1242/dmm.038737
RESEARCH ARTICLE
Gianluca D'Agati; Elena María Cabello; Karl Frontzek; Elisabeth J. Rushing; Robin Klemm; Mark D. Robinson; Richard M. White; Christian Mosimann; Alexa Burger
Doi: 10.1242/dmm.039545
RESEARCH ARTICLE
Donald M. Salter; Meredyth Griffin; Morwenna Muir; Katy Teo; Jayne Culley; James R. Smith; Laura Gomez-Cuadrado; Kylie Matchett; Andrew H. Sims; Larry Hayward; Neil C. Henderson; Valerie G. Brunton
Doi: 10.1242/dmm.038612
Close Modal

or Create an Account

Close Modal
Close Modal