Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Gene editing in the context of an increasingly complex genome

Research output: Contribution to journalReviewResearchpeer-review

  1. Analysis of the Phenotypes in the Rett Networked Database

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Strategy for efficient generation of numerous full-length cDNA clones of classical swine fever virus for haplotyping

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Is genotyping of single isolates sufficient for population structure analysis of Pseudomonas aeruginosa in cystic fibrosis airways?

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Erratum to: Liver transcriptomic networks reveal main biological processes associated with feed efficiency in beef cattle

    Research output: Contribution to journalComment/debateResearchpeer-review

  1. Antibiotic exposure in infancy and development of BMI and body composition in childhood

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Infant airway microbiota and topical immune perturbations in the origins of childhood asthma

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Environmental and Genetic Determinants of Serum 25(OH)-Vitamin D Levels during Pregnancy and Early Childhood

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Neonatal Urine Metabolic Profiling and Development of Childhood Asthma

    Research output: Contribution to journalJournal articleResearchpeer-review

  • K Blighe
  • L DeDionisio
  • K A Christie
  • B Chawes
  • S Shareef
  • T Kakouli-Duarte
  • C Chao-Shern
  • V Harding
  • R S Kelly
  • L Castellano
  • J Stebbing
  • J A Lasky-Su
  • M A Nesbit
  • C B T Moore
View graph of relations

The reporting of the first draft of the human genome in 2000 brought with it much hope for the future in what was felt as a paradigm shift toward improved health outcomes. Indeed, we have now mapped the majority of variation across human populations with landmark projects such as 1000 Genomes; in cancer, we have catalogued mutations across the primary carcinomas; whilst, for other diseases, we have identified the genetic variants with strongest association. Despite this, we are still awaiting the genetic revolution in healthcare to materialise and translate itself into the health benefits for which we had hoped. A major problem we face relates to our underestimation of the complexity of the genome, and that of biological mechanisms, generally. Fixation on DNA sequence alone and a 'rigid' mode of thinking about the genome has meant that the folding and structure of the DNA molecule -and how these relate to regulation- have been underappreciated. Projects like ENCODE have additionally taught us that regulation at the level of RNA is just as important as that at the spatiotemporal level of chromatin.In this review, we chart the course of the major advances in the biomedical sciences in the era pre- and post the release of the first draft sequence of the human genome, taking a focus on technology and how its development has influenced these. We additionally focus on gene editing via CRISPR/Cas9 as a key technique, in particular its use in the context of complex biological mechanisms. Our aim is to shift the mode of thinking about the genome to that which encompasses a greater appreciation of the folding of the DNA molecule, DNA- RNA/protein interactions, and how these regulate expression and elaborate disease mechanisms.Through the composition of our work, we recognise that technological improvement is conducive to a greater understanding of biological processes and life within the cell. We believe we now have the technology at our disposal that permits a better understanding of disease mechanisms, achievable through integrative data analyses. Finally, only with greater understanding of disease mechanisms can techniques such as gene editing be faithfully conducted.

Original languageEnglish
JournalBMC Genomics
Volume19
Issue number1
Pages (from-to)595
ISSN1471-2164
DOIs
Publication statusPublished - 8 Aug 2018

    Research areas

  • Gene Editing/methods, Genetic Engineering, Genetic Variation, Genome, Human, Humans, RNA, Guide/genetics

ID: 56447156