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Current Issue
Volume 17,
Issue 6
June 2024

Disease Models & Mechanisms (DMM) is an Open Access biomedical research journal advancing novel insight into the mechanism, diagnosis and therapy of human disease.

DMM is committed to publishing rigorously peer-reviewed research in disease biology that has significant translational impact at the interface of basic and clinical science. Our content is freely available to our communities of basic and clinical researchers, health professionals, patients and their advocates and families. DMM is interdisciplinary in scope, and covers a diverse range of diseases. We also publish cutting-edge techniques and resources that advance the disease biology field.

DMM is led by an international team of expert research-active Editors, including Editor-in-Chief Liz Patton and Deputy Editor-in-Chief Elaine Mardis, and supported by an outstanding Editorial Advisory Board.

About DMM

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Read & Publish agreements

You might be able to publish in DMM without paying an Article Processing Charge. DMM is included in many of the Read & Publish agreements offered by The Company of Biologists.

Corresponding authors at institutions with the five-journal package can publish an uncapped number of Open Access Research articles and Resources & Methods articles in DMM (and the other Company journals) without paying the Article Processing Charge.

Find out whether your institution has a Read & Publish agreement that includes DMM and whether you can publish in DMM for free.

Hear from DMM authors who have already benefitted from publishing in DMM under a Read & Publish agreement.

The Forest of Biologists The Forest of Biologists leaves icon

As part of a biodiversity initiative from The Company of Biologists, DMM plants a native tree in a UK forest for each published Research and Review article. We are also funding the restoration and preservation of ancient woodland and dedicating these trees to our peer reviewers. All of these trees are represented together in a virtual forest. Find out more about The Forest of Biologists.

NEW Special Issue: Translating Multiscale Research in Rare Disease

Editorial

The Special Issue Editors Monica Justice, Monkol Lek, Karen Liu and Kate Rauen reflect on how articles in this issue advance the rare disease research field.

A Model for Life

DMM interviewed Veronica Kinsler, a clinician scientist dedicated to researching rare paediatric skin diseases.

The Patient's Voice

In conversation with Preethi Krishnaraj, Harsha Rajasimha, founder of the Indo US Organization for Rare Diseases, shares insights into rare disease clinical trials and the importance of cross-border collaborations. Additionally, Ian Stedman, an advocate for people living with autoinflammatory diseases, emphasises the importance of broad cross-disciplinary approaches to improving healthcare and research.

Perspectives

Dana Marafi discusses the implications of founder mutations leading to increased prevalence of rare diseases in isolated groups, with a focus on the Arab world.

Chiara Gamberi and colleagues provide an overview of the pathological mechanism of TANGO2 deficiency disorder and the effects of vitamin supplementation.

Thomas Fox and Claire Booth summarise the issues surrounding access to gene therapy for rare diseases and explore potential solutions.

At A Glance

Kaiyue Ma, Monkol Lek and colleagues explore high-throughput functional methodologies suitable to examine broad disease mechanisms.

Reviews

Genevieve Kendall and colleagues summarise studies on fusion-driven paediatric soft tissue sarcomas using transgenic animal tumour models.

Kate Rauen and William Tidyman review how RAS pathway dysregulation in RASopathies affects mammalian skeletal muscle development.

Editor's choice

Physiological stress improves stem cell modeling of dystrophic cardiomyopathy by Dominic Fullenkamp, Alexander Willis, Jodi Curtin, Ansel Amaral, Kyle Dittloff, Sloane Harris, Ivana Chychula, Cory Holgren, Paul Burridge, Brenda Russell, Alexis Demonbreun and Elizabeth McNally

In this issue’s Editor’s choice Research Article, Elizabeth McNally and colleagues used human iPSC-derived cardiomyocytes as a model of Duchenne muscular dystrophy (DMD)-related cardiomyopathy to assess cellular response to mechanical stress. These cells produced a biomarker signature similar to that seen in patients, suggesting use of this model to assess pharmacological intervention.

This study highlights how incorporating mechanical stress into in vitro cardiac models of DMD is essential for model validity.

Also in this issue

Studies of craniofacial development in Robinow syndrome and CHDFIDD models reveal key roles of FZD2 and CDK13 variants, respectively.

FBRSL1 is essential for correct heart development and its variants lead to heart defects.

An ataxic mouse model reveals the importance of the cerebellum in sleep disorders.

Two studies analyse the roles of variants of the ATPases ATP1A3 and ATP8A2 in neurodevelopmental disorders.

A mouse model of muscle-eye-brain disease reveals new insights into dystroglycanopathy pathogenesis.

The International Mouse Phenotyping Consortium is a valuable resource for disease gene discovery.

Journals from The Company of Biologists

Development current cover
Journal of Cell Science current cover
Journal of Experimental Biology current cover
Disease Models and Mechanisms current cover
Biology Open current cover
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