Diseases articles within Nature Reviews Genetics

Featured

  • Review Article |

    In this Review, Stanley summarizes the role of genetics in mammalian glycosylation, highlighting how advances in genetic and genomic technologies are helping to characterize the genes involved and contributing to the development of therapies for diseases related to glycosylation.

    • Pamela Stanley

  • Review Article |

    In this Review, Sayers et al. summarize findings from recent large-scale genetic epidemiology studies on the genetic underpinnings of chronic respiratory diseases. Furthermore, they outline how insights gained from such studies can improve treatment approaches.

    • Ian Sayers
    • , Catherine John
    •  & Ian P. Hall

  • Review Article |

    Chromothripsis, a complex genomic rearrangement of one (or a few) chromosomes, is frequently found in cancer genomes. The authors review methods to identify chromothripsis in cancer genomes and discuss its mechanisms of formation in micronuclei or chromosomal bridges as well as its consequences in cancer. They also highlight the link between chromothripsis and extrachromosomal DNA.

    • Ksenia Krupina
    • , Alexander Goginashvili
    •  & Don W. Cleveland

  • Research Highlight |

    Two studies published in Nature investigate the genetic mechanisms of sex bias in cancers and implicate Y chromosome genes in contributing to the aggressiveness of bladder cancer and colorectal cancer in men.

    • Michael Attwaters

  • Journal Club |

    Leon Mutesa highlights a 2009 article by Yehuda and Bierer that considered the relevance of epigenetic mechanisms to post-traumatic stress disorder, which inspired his own research on the importance of DNA methylation changes in trauma survivors.

    • Leon Mutesa

  • Review Article |

    This Review explores the use of non-mammalian model organisms in the genetic diagnosis of rare diseases, focusing on the use of worms, flies and zebrafish. The strategies, genetic technologies and approaches to using these models are discussed, as well as how they can provide insight into more common disease mechanisms.

    • Shinya Yamamoto
    • , Oguz Kanca
    •  & Hugo J. Bellen

  • Review Article |

    In this Review, the authors summarize the current evidence for the use of genomic sequencing in newborn screening for rare diseases. As several large-scale studies launch internationally, the authors discuss major challenges and opportunities that lie ahead and identify key research priorities.

    • Zornitza Stark
    •  & Richard H. Scott

  • Review Article |

    This Review discusses the range of methods used for assessing the growth and fitness of SARS-CoV-2 variants, from classic population genetics to phylogenetics and epidemiological data, and describes future perspectives for surveillance of SARS-CoV-2.

    • Erik Volz

  • Perspective |

    In this Perspective, Lim et al. discuss the potential benefits of, and the challenges associated with, translating single-cell genomic approaches from research to clinical settings.

    • Jennifer Lim
    • , Venessa Chin
    •  & Joseph E. Powell

  • Review Article |

    Mutations that affect primary cilia cause ciliopathies with variable severity and expressivity. The diversity of cilia across cell types, tissues and developmental stages enables their function as versatile signalling hubs but may underlie the disconnect between genotype and phenotype. This Review examines the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.

    • Pleasantine Mill
    • , Søren T. Christensen
    •  & Lotte B. Pedersen

  • Review Article |

    In this Review, the authors discuss our growing knowledge of the underlying genetics of amyotrophic lateral sclerosis (ALS; also known as motor neuron disease). They discuss how this information provides insight into causal disease mechanisms and translational opportunities for developing clinical therapeutics.

    • Fulya Akçimen
    • , Elia R. Lopez
    •  & Bryan J. Traynor

  • Review Article |

    Alternative splicing of pre-mRNAs is key for cellular function and underpins the aetiology of numerous diseases. Here, we review major advances in understanding the structures and functions of the splicing machinery and its regulation, and in harnessing this knowledge for the design of novel therapies.

    • Malgorzata Ewa Rogalska
    • , Claudia Vivori
    •  & Juan Valcárcel

  • Research Highlight |

    A paper in Cancer Cell reports genetic ancestry-associated differences in clinical outcomes when using tumour mutational burden as a biomarker in the context of immune checkpoint inhibitor therapy.

    • Linda Koch

  • Review Article |

    Mendelian defects in genes encoding factors that regulate telomere length, structure and function cause telomeropathies, or telomere biology disorders (TBDs). The authors review confirmed as well as potential TBD-causing genes and their main functions in telomere biology. They also discuss genetic features that underlie the complex nature of these diseases.

    • Patrick Revy
    • , Caroline Kannengiesser
    •  & Alison A. Bertuch

  • Review Article |

    The circadian system and sleep physiology are linked to myriad biological processes, the disruption of which is detrimental to human health. Here, the authors review insights from genetic studies of human circadian and sleep phenotypes and disorders, with a focus on those with causal contributions to other complex diseases.

    • Jacqueline M. Lane
    • , Jingyi Qian
    •  & Richa Saxena

  • Review Article |

    In this Review, the authors discuss our latest understanding of extrachromosomal DNA (ecDNA), a type of circular DNA element commonly found in cancers. They discuss ecDNA properties, including oncogene amplifications and transcriptional hub formation, as well as opportunities for therapeutic interventions.

    • Eunhee Yi
    • , Rocío Chamorro González
    •  & Roel G. W. Verhaak

  • Review Article |

    Publicly available sequencing data can be used as external common controls for rare variant analyses but cautious sample ascertainment and processing is needed to avoid bias and confounding. The authors review opportunities and challenges for the robust use of common controls in genetic studies, including study design, infrastructure and quality control considerations.

    • Genevieve L. Wojcik
    • , Jessica Murphy
    •  & Audrey E. Hendricks

  • Journal Club |

    Lillian Musila highlights a paper by Quick et al., which reported the use of portable nanopore sequencing for on-site, real-time genomic surveillance during the 2014–2016 Ebola virus epidemic.

    • Lillian Musila

  • Review Article |

    Rackham and Filipovska review our current understanding of mitochondrial genome organization and expression, and discuss how new technologies and animal models are providing insights into how its mis-regulation leads to diseases of impaired energy conversion.

    • Oliver Rackham
    •  & Aleksandra Filipovska

  • In Brief |

    A report in Science describes a method to generate transient chimeric antigen receptor (CAR) T cells in vivo via lipid nanoparticle-mediated T cell-targeted delivery of a CAR-encoding nucleoside-modified mRNA.

    • Dorothy Clyde

  • Review Article |

    In this Review the authors provide an overview of key algorithmic developments, popular tools and emerging technologies used in the bioinformatic analysis of genomes. They also describe how such analysis can identify point mutations, copy number alterations, structural variations and mutational signatures in cancer genomes.

    • Isidro Cortés-Ciriano
    • , Doga C. Gulhan
    •  & Peter J. Park

  • Review Article |

    The authors review the field of mammalian mitochondrial genome engineering, culminating in the recent development of mitochondrially targeted programmable nucleases and base editors. They describe research that led to the development of animal models of mitochondrial disease, as well as the potential for translating these approaches to the clinic.

    • Pedro Silva-Pinheiro
    •  & Michal Minczuk

  • Journal Club |

    In this Journal Club article, Fowzan Alkuraya describes how a paper outlining the mathematical foundations of homozygosity mapping provided a route to disease gene identification that still benefits his patients in clinical practice today.

    • Fowzan S. Alkuraya

  • Comment |

    Individual cells in the same induced pluripotent stem cell (iPSC)-derived clones can exhibit large heterogeneity. In this Comment, Carelli et al. discuss emerging evidence implicating variants in mitochondrial DNA, and highlight the need for routine screening of iPSCs.

    • Valerio Carelli
    • , Michio Hirano
    •  & Patrick F. Chinnery

  • Review Article |

    In this Review, Loos and Yeo summarize our current understanding of the genetic underpinnings of monogenic and polygenic obesity. They highlight the commonalities revealed by recent studies and discuss the implications for treatment and prediction of obesity risk.

    • Ruth J. F. Loos
    •  & Giles S. H. Yeo

  • Review Article |

    In this Review, Gelernter and Polimanti discuss how recent large-scale studies have provided insights into the genetics and biology of substance use and abuse. By considering a range of addictive substances (both legal and illegal), they describe the genetic commonalities and distinctions among use and dependency phenotypes for these substances.

    • Joel Gelernter
    •  & Renato Polimanti

  • Review Article |

    McLaren and Fellay review our current understanding of the effects of human genetic variation on HIV infection and disease progression and how this knowledge is contributing to preventative and therapeutic approaches.

    • Paul J. McLaren
    •  & Jacques Fellay

  • Comment |

    Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.

    • William L. Macken
    • , Anneke M. Lucassen
    •  & Robert D. S. Pitceathly

  • Review Article |

    Population-scale testing is an essential component of responses to the COVID-19 pandemic and is likely to become increasingly important in public health. Here, Mercer and Salit describe the roles of testing during the COVID-19 pandemic, including in genomic surveillance, contact tracing and environmental testing.

    • Tim R. Mercer
    •  & Marc Salit

  • Perspective |

    In this Perspective article, Oh and Petronis discuss emerging evidence of time-dependent patterns of DNA modification and describe how incorporating this ‘chrono-epigenetic’ perspective could add value and interpretability in human disease studies.

    • Edward Saehong Oh
    •  & Art Petronis

  • Journal Club |

    Cisca Wijmenga reflects on a seminal publication by Houwen et al. that set the stage for genome-wide association studies and inspired her to dedicate her lab to complex trait genetics.

    • Cisca Wijmenga

  • Review Article |

    In this Review, Neafsey, Taylor and MacInnis discuss how population genomics approaches are currently used to study malaria parasites and mosquito vectors. They explore information that can be derived from such genomics approaches and discuss the use of relatedness-based measures of population variation to understand parasite and vector dynamics at highly resolved spatiotemporal scales.

    • Daniel E. Neafsey
    • , Aimee R. Taylor
    •  & Bronwyn L. MacInnis

  • Research Highlight |

    Two new studies in Cell report the use of CRISPR–Cas cytosine base editors (CBEs) in mammalian cells for high-throughput functional genomics screens.

    • Linda Koch

  • In Brief |

    Fozouni et al. describe a CRISPR–Cas13a-based approach for rapid, accurate and portable detection of SARS-CoV-2 in infected individuals.

    • Dorothy Clyde

  • Research Highlight |

    Two new reports in Cell use genome-wide CRISPR screens to uncover host determinants of coronavirus infection, identifying potential leads for antiviral therapeutics.

    • Darren J. Burgess

  • Research Highlight |

    Two papers in Cell report large-scale genome-wide association studies that provide new insights into the genetic architecture of haematopoietic phenotypes and emphasize the importance of large, diverse data sets.

    • Dorothy Clyde

  • Review Article |

    This Review outlines a broad, universal framework for systems biology applied to infectious disease research. From study design and omics data collection, analysis, visualization and interpretation to translational outcomes, the authors illustrate how systems biology can provide insights into host–pathogen relationships for the betterment of human health.

    • Manon Eckhardt
    • , Judd F. Hultquist
    •  & Nevan J. Krogan

  • Research Highlight |

    A recent study in Nature Microbiology reports metagenomic signatures of early-life antibiotic treatment and hospitalization associated with preterm birth that persist long-term.

    • Linda Koch

  • Review Article |

    Somatic genetic rescue (SGR) occurs when an acquired somatic mutation counteracts the effects of a germline mutation at a cellular level. The increasing number of SGR events reported for Mendelian haematopoietic diseases have important diagnostic, therapeutic and clinical consequences.

    • Patrick Revy
    • , Caroline Kannengiesser
    •  & Alain Fischer

  • Research Highlight |

    Two recent studies trace epigenetic marks in cells from patients with chronic lymphocytic leukaemia (CLL) to characterize the evolution of the epigenome in cancer.

    • Carolina N. Perdigoto

  • Editorial |

    Genomics has transformed the field of microbiology, but remaining challenges will need to be tackled for its benefits to be felt globally.

  • Research Highlight |

    Two meta-analyses of fecal metagenomics studies report the presence of a microbial signature that is predictive of colorectal cancer.

    • Linda Koch

  • Review Article |

    This article reviews recent advances in ancient pathogen genomics, from methodological improvements in retrieving whole genomes to evolutionary analyses of ancient pathogens that remain relevant to public health. Focusing on the evolutionary history of the plague pathogen Yersinia pestis, the authors present unique insights afforded by the study of ancient pathogen genomes.

    • Maria A. Spyrou
    • , Kirsten I. Bos
    •  & Johannes Krause

  • Review Article |

    Clinical metagenomic next-generation sequencing (mNGS) is rapidly moving from bench to bedside. This Review discusses the clinical applications of mNGS, including infectious disease diagnostics, microbiome analyses, host response analyses and oncology applications. Moreover, the authors review the challenges that need to be overcome for mNGS to be successfully implemented in the clinical laboratory and propose solutions to maximize the benefits of clinical mNGS for patients.

    • Charles Y. Chiu
    •  & Steven A. Miller

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