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Volume 52 Issue 5, May 2020

Volume 52 Issue 5

Sorbitol cyclone

This double-helix-shaped cyclone of sweetener packets depicts the detrimental effect of increased sorbitol levels on peripheral nerves, caused by biallelic mutations in the sorbitol dehydrogenase (SORD) gene.

See Cortese et al.

Image: Marie Stargala and Matthew Rosen, Twenty Three Calvin. Cover Design: Erin Dewalt.


  • Editorial |

    The promise of personalized medicine lies in the tailored treatment of individual patients, a process requiring detailed phenotypic and genetic information. Although the widespread collection of such data can help to advance the implementation of precision healthcare, the genomic sequencing data being amassed also include private information that could potentially be used as a basis for genetic discrimination. It is important for the genetics community to be aware of these risks and to contribute to policies designed to monitor and mitigate threats to the equitable treatment of individuals or populations on the basis of genetics.


  • Comment |

    Genetic discrimination is one of the most pervasive challenges resulting from research and development in human genetics. To collaboratively study and prevent this ethical issue, we established an international Genetic Discrimination Observatory comprising a network of researchers and stakeholders from more than 19 jurisdictions.

    • Yann Joly
    • Gratien Dalpé
    • Yvonne Bombard

News & Views

  • News & Views |

    A new study identifies sorbitol dehydrogenase (SORD) deficiency as a slowly progressive hereditary motor axonopathy caused by a genetic defect in the second step of the polyol pathway, thus leading to elevated tissue and blood sorbitol. SORD deficiency is the most common recessive cause of neuropathy, for which therapeutic intervention with aldose reductase inhibitors may have potential.

    • Eva Morava
  • News & Views |

    A new study addresses whether transcription of enhancers and the resulting enhancer RNAs (eRNAs) play a role in mediating long-range interactions between enhancers and promoters. Studying the immunoglobulin heavy chain (Igh) locus, the authors find that transcription of the enhancers per se is required to establish but not maintain these interactions, and this mechanism may apply to a subset of other enhancer–promoter interactions.

    • Douglas R. Higgs



Technical Reports

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