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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

RESEARCH ARTICLE

Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction

Claire B. Montgomery; Lili Salinas; Garrett P. Cox; Lauren E. Adcock; Tiffany Chang; Francisco Figueroa; Gino Cortopassi; Elena N. Dedkova

02 April 2025

https://doi.org/10.1242/dmm.052128

REVIEW

Gestational trophoblastic disease: understanding the molecular mechanisms of placental tumours

Alina Nicheperovich; Benjamin Schuster-Böckler; Máire Ní Leathlobhair

28 January 2025

https://doi.org/10.1242/dmm.052010

RESEARCH ARTICLE

Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b

Ayyappa Raja Desingu Rajan; Yuanyun Huang; Jan Stundl; Katelyn Chu; Anushka Irodi; Zihan Yang; Brian E. Applegate; Marianne E. Bronner

04 December 2024

https://doi.org/10.1242/dmm.050862

RESEARCH ARTICLE

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA

Samuel B. Burnett; Allison M. Culver; Tricia A. Simon; Taylor Rowson; Kenneth Frederick; Kristina Palmer; Stephen A. Murray; Shannon W. Davis; Rekha C. Patel

26 November 2024

https://doi.org/10.1242/dmm.050929

REVIEW

Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches

Andrew R. Findlay

06 November 2024

https://doi.org/10.1242/dmm.050720

RESOURCES & METHODS

A prioritization tool for cilia-associated genes and their in vivo resources unveils new avenues for ciliopathy research

Robert E. Van Sciver; Tamara Caspary

14 October 2024

https://doi.org/10.1242/dmm.052000

RESEARCH ARTICLE

Neuromuscular junction dysfunction in Lafora disease

Monica Shukla; Deepti Chugh; Subramaniam Ganesh

14 October 2024

https://doi.org/10.1242/dmm.050905

RESEARCH ARTICLE

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Shiyu Luo; Bilal Alwattar; Qifei Li; Kiran Bora; Alexandra K. Blomfield; Jasmine Lin; Anne Fulton; Jing Chen; Pankaj B. Agrawal

30 July 2024

https://doi.org/10.1242/dmm.050557

RESEARCH ARTICLE

Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation

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

25 July 2024

https://doi.org/10.1242/dmm.050768

RESOURCES & METHODS | REVIEW COMMONS TRANSFER

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

Theresa Kagermeier; Stefan Hauser; Kseniia Sarieva; Lucia Laugwitz; Samuel Groeschel; Wibke G. Janzarik; Zeynep Yentür; Katharina Becker; Ludger Schöls; Ingeborg Krägeloh-Mann; Simone Mayer

22 July 2024

https://doi.org/10.1242/dmm.050740

EDITORIAL

Translating multiscale research in rare disease

Kirsty M. Hooper; Monica J. Justice; Monkol Lek; Karen J. Liu; Katherine A. Rauen

10 July 2024

https://doi.org/10.1242/dmm.052009

RESEARCH ARTICLE

Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome

Shruti S. Tophkhane; Katherine Fu; Esther M. Verheyen; Joy M. Richman

05 July 2024

https://doi.org/10.1242/dmm.050584

RESEARCH ARTICLE

ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress

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

02 July 2024

https://doi.org/10.1242/dmm.050574

RESEARCH ARTICLE

Hyperactivation of MEK1 in cortical glutamatergic neurons results in projection axon deficits and aberrant motor learning

George R. Bjorklund; Katherina P. Rees; Kavya Balasubramanian; Lauren T. Hewitt; Kenji Nishimura; Jason M. Newbern

02 July 2024

https://doi.org/10.1242/dmm.050570

RESOURCES & METHODS

Computational identification of disease models through cross-species phenotype comparison

Pilar Cacheiro; Diego Pava; Helen Parkinson; Maya VanZanten; Robert Wilson; Osman Gunes; the International Mouse Phenotyping Consortium; Damian Smedley

01 July 2024

https://doi.org/10.1242/dmm.050604

AT A GLANCE

High-throughput assays to assess variant effects on disease

Kaiyue Ma; Logan O. Gauthier; Frances Cheung; Shushu Huang; Monkol Lek

28 June 2024

https://doi.org/10.1242/dmm.050573

RESEARCH ARTICLE

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

Eleanor J. McKay; Ineke Luijten; Sophie Broadway-Stringer; Adrian Thomson; Xiong Weng; Katya Gehmlich; Gillian A. Gray; Robert K. Semple

28 June 2024

https://doi.org/10.1242/dmm.050561