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Rare disease translational research using model systems
Currently, 6000-8000 rare diseases, defined in the USA as a disease that affects fewer than 200,000 people, have been identified. Individual rare diseases might affect only a few people, making them difficult to recognize, diagnose or treat by studying humans alone. Rare diseases cover a wide range of phenotypes, affecting nearly any organ system or biological function. This collection covers the past five years of publications in DMM that inform rare diseases, showing how model systems reveal new gene functions, are used in preclinical studies, and enable the screening of novel and repurposed treatments.
Human host-microbiome interactions in health and disease
Imbalances or alterations in the composition of our microbiome are now implicated in many disease states. This collection of review and research articles gives a snapshot of the complexity of the microbiome and its role in maintaining human health.
Cancer metabolism
Recent years have brought about a resurgent interest in cancer metabolism. New insights into how cancer cells hijack metabolic pathways to not only advance their own survival, but also modulate the tumour microenvironment and the host immune system, are opening novel therapeutic windows. The complex metabolic cross-talk between cancer cells and their environment highlights the importance of advanced in vitro and in vivo models for studying cancer metabolism, providing incentive for the continued development of improved models to facilitate translation.
Here, we feature Reviews, Model for Life interviews and other articles, including specially commissioned content from a special issue launched in 2018: Cancer Metabolism: Models, Mechanisms and Targets, which was guest edited by Almut Schulze (University of Würzberg, Germany) and Mariia Yuneva (Crick Institute, London, UK).
Organoids: a new dimension in translational research modelling
Organoids and three-dimensional tissue culture systems offer more accurate representation of the cellular microenvironment and in vivo cellular responses than traditional two-dimensional cell culture monolayers. Both can be genetically modified and induced to phenocopy diseases, with enormous potential to model disease, test therapeutic interventions and screen drugs. Here we provide a selection of articles on organoid and 3D tissue culture models in translational research,
Neurodegeneration: from models to mechanisms to therapies
A growing aging population means that age-dependent neurodegenerative disorders such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease and amyotrophic lateral sclerosis are affecting increasing numbers of people, making research into these diseases more important than ever. In particular, animal models have proven to be excellent tools for studying neurodegenerative processes, providing incentive to develop new and improved models that will facilitate drug discovery in this area.
Here, we feature Reviews, Research, Resources, Model for Life interviews and other articles, including specially commissioned content from a special issue launched in 2017: Neurodegeneration: from models to mechanisms to therapies, which was guest edited by Aaron Gitler (Stanford University) and James Shorter (The Perelman School of Medicine at the University of Pennsylvania).
Rat as a Disease Model
The rat is a key model for basic and preclinical studies of physiology, pharmacology, toxicology and neuroscience, underlining its importance in studies of human disease. There are many reasons for this - the close evolutionary and genomic relationship to humans, the sophistication and sociability of the animal, the ease of physiological and behavioural measurements, and the availability of extensive biological data. Here, DMM presents Reviews, Research, Resources, Model for Life interviews and other articles, including specially commissioned content from a special issue launched in 2016: Spotlight on Rat: Translational Impact, which was guest edited by Tim Aitman and Aron Geurts. This special collection highlights that rat research is driven by a forward-looking community dedicated to increasing our understanding of basic biology and human disease.
Drosophila as a Disease Model
Drosophila melanogaster has been a popular model organism since the early 20th century, when Thomas H. Morgan first used the organism in the study of heredity. The experimental tractability of fruit flies and their similarity to humans have placed the model at the forefront of research into human development and disease. It is estimated that almost 75% of human disease-causing genes have a homologue in flies, and there is an ever-growing number of useful Drosophila models available for the study of the genes and pathways involved in a wide range of diseases. Here, we feature Reviews, Research, Resources, Model for Life interviews and other articles, including specially commissioned content from a collection launched in 2016: Spotlight on Drosophila: Translational Impact, which was guest edited by Norbert Perrimon and Nancy Bonini.
Model Systems in Drug Discovery
Model systems, including laboratory animals, microorganisms, and cell- and tissue-based systems, are central to the discovery and development of new and better drugs for the treatment of human disease. DMM is committed to supporting and inspiring scientists in this research area to further promote collaboration between academia and industry in translational science. This collection, launched with a special issue of the journal guest edited by Matthew Breyer (Eli Lilly and Company) and Thomas Look (Dana-Farber Cancer Institute and Harvard Medical School), highlights the contribution of model systems to drug discovery and optimisation across multiple disease areas. You will find excellent Reviews and Research articles, newly or recently published in DMM, on the use of a variety of model systems to test or develop new drugs. You will also find editorials and interviews from scientists who have contributed to translating research discoveries into patient therapies.
Zebrafish as a Disease Model
The zebrafish is a powerful research tool for investigating vertebrate developmental biology and disease pathology. As this model organism is also ideal for large-scale drug screening, it is becoming an increasingly popular part of research programs that aim to improve the understanding, diagnosis and treatment of human disease. This collection, which includes Research, Resources, Reviews and Model for Life interviews, illustrates the translational impact of zebrafish research across a broad range of disease areas. It includes articles from our 2014 special issue 'Spotlight on Zebrafish: Translational Impact', which was guest edited by Liz Patton, James Amatruda and Lalita Ramakrishnan.
Cancer
Cancer is one of the leading causes of death globally; it is predicted that annual cancer cases will rise to 22 million within the next two decades. The complexity of cancer has prompted scientists worldwide to employ animal and cell-based models to investigate the mechanisms underlying the disease. Recent advances in cancer models and the increasing sophistication of high-throughput systems and pharmacogenomics tools now enable researchers to better model and target this multi-aetiology disease. The challenge is to use these discoveries to advance cancer prevention and diagnosis, and to accelerate translation into potential therapeutics to stop disease progression and prolong patient lives.
Tools and Resources for Mouse Studies
The mouse is an exceptional model organism in biomedical research. Its unique potential for experimental manipulation, and the similarities between the human and mouse genomes have enabled researchers to dissect the genetics of many human diseases. The mouse is also a prominent model for the discovery and preclinical testing of new drugs. In this collection, we showcase some of the DMM articles that have discussed techniques, policies, and issues relating to standardisation and reproducibility in mouse-based research, or provided tools of broad utility for the mouse research community. Find studies that have used mice to provide insight into specific diseases in our other collections and issues.
Perspectives on Translational Research
DMM articles discuss a wide range of issues important to the broad community of researchers in biomedical science. These articles can, for example, present an author's opinion on a controversial topic, highlight advances that will impact a broad community, outline new policies, raise challenging questions or propose a new idea.
Metabolic Disorders
Metabolic disorders, such as obesity and type 2 diabetes, have become epidemic in the Western world. Although it is clear that genetics, environmental cues and societal factors can all influence the initiation and progression of metabolic disorders, the contribution of and interplay between each of these factors, and the underlying molecular mechanisms involved in pathology, remain incompletely understood. New research in this area promises to uncover therapeutic targets that could be developed into new drugs. This collection also includes articles from our special issue: 'The Obese Species'.
Stem Cells
In recent years, the translational potential of stem cell research has begun to be realised, with advances in stem cell therapy and the establishment of promising disease models based on patient-derived induced pluripotent stem cells (iPSCs). Stem cell systems that faithfully recapitulate human disease phenotypes provide unique resources for drug screening and for the study of disease mechanisms. Further research in this area will help take stem cells from the bench to the bedside in the treatment of human disease.
Over the past few years, DMM and its sister journal Development have met and talked with several leaders of the stem cell field. In this collection of interviews, you will find out how they got where they are today, how they view their major achievements, and what questions still excite them.