Health sciences 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

  • Perspective |

    This Perspective reviews large-scale genomics and longitudinal phenomics efforts and the insights they can provide into wellness. The authors describe their vision for the transformation of the current health care from disease-oriented to data-driven, wellness-oriented and personalized population health.

    • James T. Yurkovich
    • , Simon J. Evans
    •  & Leroy E. Hood

  • 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 |

    Environmental pollutants have been shown to disrupt molecular mechanisms underlying common complex diseases. The authors review the interplay of environmental stressors with the human genome and epigenome as well as other molecular processes, such as production of extracellular vesicles, epitranscriptomic changes and mitochondrial changes, through which the environment can exert its effects.

    • Haotian Wu
    • , Christina M. Eckhardt
    •  & Andrea A. Baccarelli

  • Review Article |

    In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.

    • Munir Pirmohamed

  • Journal Club |

    Sérgio Pena discusses a 2019 study by Gruhn et al., which showed that meiotic chromosome segregation errors originating in oocytes determine the curve of female fertility in humans.

    • Sergio D. J. Pena

  • 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

  • Review Article |

    Non-B DNA secondary structures, such as G quadruplexes, H-DNA or Z-DNA, have key roles in genetic instability and disease aetiology. The authors review the impact of non-B DNA on transcription, replication, recombination and DNA damage and repair, the mechanisms of non-B DNA-induced mutagenesis and the role of non-B DNA sequences in human disease.

    • Guliang Wang
    •  & Karen M. Vasquez

  • 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 |

    Flotte et al. describe the first test of adeno-associated virus-based gene therapy for Tay-Sachs disease in humans. Delivery to the thalamus and cerebrospinal fluid was found to be broadly safe, providing a firm basis for future clinical trials.

    • Dorothy Clyde

  • 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

  • Research Highlight |

    A new study in Nature reports a large-scale genome-wide association study of menopause timing, revealing mechanistic details and potential therapeutic opportunities for preserving human fertility.

    • Darren J. Burgess

  • Review Article |

    Genome-wide association studies (GWAS) have revealed important biological insights into complex diseases. The authors review approaches that leverage GWAS to identify opportunities for repurposing existing drugs, including single-loci mapping to drug targets, transcriptome-wide association studies, gene-set association, causal inference by Mendelian randomization and polygenic scoring.

    • William R. Reay
    •  & Murray J. Cairns

  • Comment |

    In this Comment, Balogun and Olopade highlight opportunities and initiatives for incorporating genomics into cancer management to promote health equity.

    • Onyinye D. Balogun
    •  & Olufunmilayo I. Olopade

  • Review Article |

    Synthetic biology has enabled the development of engineered cells that can serve as ex vivo or in vivo diagnostic tools or therapeutic delivery systems. This Review discusses preclinical and clinical applications of bacterial and mammalian theranostic cells as well as their underlying biological designs and remaining hurdles to their successful clinical application.

    • Monica P. McNerney
    • , Kailyn E. Doiron
    •  & Pamela A. Silver

  • 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 |

    Silver, Bick and Savona discuss our latest understanding of clonal haematopoiesis (CH), which is an expansion of blood cell populations with shared somatic mutations. They focus on human germline risk variants and on how these are linked to different forms of CH and their associated disease pathologies.

    • Alexander J. Silver
    • , Alexander G. Bick
    •  & Michael R. Savona

  • 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

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