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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. In June 2024, DMM published a dedicated special issue - Translating Multiscale Research in Rare Disease, edited by Monica Justice, Monkol Lek, Karen Liu and Kate Rauen.

Other subject collections

Special Collection Image
Alina Nicheperovich; Benjamin Schuster-Böckler; Máire Ní Leathlobhair
Ayyappa Raja Desingu Rajan; Yuanyun Huang; Jan Stundl; Katelyn Chu; Anushka Irodi; Zihan Yang; Brian E. Applegate; Marianne E. Bronner
Samuel B. Burnett; Allison M. Culver; Tricia A. Simon; Taylor Rowson; Kenneth Frederick; Kristina Palmer; Stephen A. Murray; Shannon W. Davis; Rekha C. Patel
Andrew R. Findlay
Robert E. Van Sciver; Tamara Caspary
Monica Shukla; Deepti Chugh; Subramaniam Ganesh
Shiyu Luo; Bilal Alwattar; Qifei Li; Kiran Bora; Alexandra K. Blomfield; Jasmine Lin; Anne Fulton; Jing Chen; Pankaj B. Agrawal
Ruchen Zhang; Paniz Farshadyeganeh; Bisei Ohkawara; Kazuki Nakajima; Jun-ichi Takeda; Mikako Ito; Shaochuan Zhang; Yuki Miyasaka; Tamio Ohno; Madoka Mori-Yoshimura; Akio Masuda; Kinji Ohno
Theresa Kagermeier; Stefan Hauser; Kseniia Sarieva; Lucia Laugwitz; Samuel Groeschel; Wibke G. Janzarik; Zeynep Yentür; Katharina Becker; Ludger Schöls; Ingeborg Krägeloh-Mann; Simone Mayer
Kirsty M. Hooper; Monica J. Justice; Monkol Lek; Karen J. Liu; Katherine A. Rauen
Shruti S. Tophkhane; Katherine Fu; Esther M. Verheyen; Joy M. Richman
Fumihiko Fujii; Hikaru Kanemasa; Sayaka Okuzono; Daiki Setoyama; Ryoji Taira; Kousuke Yonemoto; Yoshitomo Motomura; Hiroki Kato; Keiji Masuda; Takahiro A. Kato; Shouichi Ohga; Yasunari Sakai
George R. Bjorklund; Katherina P. Rees; Kavya Balasubramanian; Lauren T. Hewitt; Kenji Nishimura; Jason M. Newbern
Pilar Cacheiro; Diego Pava; Helen Parkinson; Maya VanZanten; Robert Wilson; Osman Gunes; the International Mouse Phenotyping Consortium; Damian Smedley
Eleanor J. McKay; Ineke Luijten; Sophie Broadway-Stringer; Adrian Thomson; Xiong Weng; Katya Gehmlich; Gillian A. Gray; Robert K. Semple
Kaiyue Ma; Logan O. Gauthier; Frances Cheung; Shushu Huang; Monkol Lek
Dana Marafi
Jack P. Kucinski; Delia Calderon; Genevieve C. Kendall
Marek Hampl; Nela Jandová; Denisa Lusková; Monika Nováková; Tereza Szotkowská; Štěpán Čada; Jan Procházka; Jiri Kohoutek; Marcela Buchtová
Rui Lois Tan; Francesca Sciandra; Wolfgang Hübner; Manuela Bozzi; Jens Reimann; Susanne Schoch; Andrea Brancaccio; Sandra Blaess
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