Skip to Main Content

Advertisement

Skip Nav Destination

Rare Disease Translational Research

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 recognise, diagnose or treat by studying humans alone. This collection, launched on Rare Disease Day 2019, features articles that show how model systems reveal new gene functions, can be used in preclinical studies, and enable the screening of novel and repurposed treatments for rare diseases.

Other subject collections

Special Collection Image
Destynie Medeiros; Karen Ayala-Baylon; Hailey Egido-Betancourt; Eric Miller; Christopher Chapleau; Holly Robinson; Mary L. Phillips; Tao Yang; Frank M. Longo; Wei Li; Lucas Pozzo-Miller
Oluwaseun Akinyele; Anushe Munir; Marie A. Johnson; Megan S. Perez; Yuan Gao; Jackson R. Foley; Ashley Nwafor; Yijen Wu; Tracy Murray-Stewart; Robert A. Casero, Jr.; Hülya Bayir; Dwi U. Kemaladewi
Eli Matsell; Jens Peter Andersen; Robert S. Molday
Thomas A. Fox; Claire Booth
Dominic E. Fullenkamp; Alexander B. Willis; Jodi L. Curtin; Ansel P. Amaral; Kyle T. Dittloff; Sloane I. Harris; Ivana A. Chychula; Cory W. Holgren; Paul W. Burridge; Brenda Russell; Alexis R. Demonbreun; Elizabeth M. McNally
Veronica A. Kinsler
Jie Gao; Shumei Ren; Gabrielle Choonoo; Guoying Chen; Davor Frleta; Jun Zhong; Namita Gupta; Prachi Sharma; Adelekan Oyejide; Gurinder S. Atwal; Lynn Macdonald; Andrew Murphy; Frank Kuhnert
Kirsty M. Hooper; Julija Hmeljak
David Mengel; Isabel G. Wellik; Kristen H. Schuster; Sabrina I. Jarrah; Madeleine Wacker; Naila S. Ashraf; Gülin Öz; Matthis Synofzik; Maria do Carmo Costa; Hayley S. McLoughlin
Selin Gümüşderelioğlu; Lauren Resch; Trisha Brock; Undiagnosed Diseases Network; G. W. Gant Luxton; Heidi Cope; Queenie K.-G. Tan; Christopher Hopkins; Daniel A. Starr
Ramón García-Sanz; María García-Álvarez; Alejandro Medina; Elham Askari; Verónica González-Calle; María Casanova; Igor de la Torre-Loizaga; Fernando Escalante-Barrigón; Miguel Bastos-Boente; Abelardo Bárez; Nerea Vidaña-Bedera; José María Alonso; María Eugenia Sarasquete; Marcos González; María Carmen Chillón; Miguel Alcoceba; Cristina Jiménez
Bridget M. Stroup; Xiaohui Li; Sara Ho; Haonan Zhouyao; Yuqing Chen; Safa Ani; Brian Dawson; Zixue Jin; Ronit Marom; Ming-Ming Jiang; Isabel Lorenzo; Daniel Rosen; Denise Lanza; Nathalie Aceves; Sara Koh; John R. Seavitt; Jason D. Heaney; Brendan Lee; Lindsay C. Burrage
Vicki J. Swier; Katherine A. White; Tyler B. Johnson; Xiaojun Wang; Jimin Han; David A. Pearce; Ruchira Singh; Arlene V. Drack; Wanda Pfeifer; Christopher S. Rogers; Jon J. Brudvig; Jill M. Weimer
José L. Marín-Rubio; Ishier Raote; Joseph Inns; Carol Dobson-Stone; Neil Rajan
Tomoya Kubota; Satoe Takahashi; Risa Yamamoto; Ruka Sato; Aya Miyanooto; Reina Yamamoto; Kosuke Yamauchi; Kazuaki Homma; Masanori P. Takahashi
Sara Bonzano; Eleonora Dallorto; Ivan Molineris; Filippo Michelon; Isabella Crisci; Giovanna Gambarotta; Francesco Neri; Salvatore Oliviero; Ruth Beckervordersandforth; Dieter Chichung Lie; Paolo Peretto; Serena Bovetti; Michèle Studer; Silvia De Marchis
Valentina Zuco; Sandro Pasquali; Monica Tortoreto; Stefano Percio; Valentina Doldi; Marta Barisella; Paola Collini; Gian Paolo Dagrada; Silvia Brich; Patrizia Gasparini; Marco Fiore; Michela Casanova; Anna Maria Frezza; Alessandro Gronchi; Silvia Stacchiotti; Andrea Ferrari; Nadia Zaffaroni
Céline Schaeffer; Maurizio De Fusco; Elena Pasqualetto; Caterina Scolari; Claudia Izzi; Francesco Scolari; Luca Rampoldi
Ariany Oliveira-Santos; Marisela Dagda; Jennifer Wittmann; Robert Smalley; Dean J. Burkin
Agnese Kocere; Robert L. Lalonde; Christian Mosimann; Alexa Burger
Close Modal

or Create an Account

Close Modal
Close Modal