Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop

Chromosoma. 2020 Jun;129(2):115-120. doi: 10.1007/s00412-020-00737-6. Epub 2020 May 18.

Abstract

The International University of Andalucía (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA and China to discuss recent advances in our molecular and genetic understanding of a group of rare neurodevelopmental diseases characterised by primary microcephaly, a condition in which head circumference is smaller than normal at birth. Microcephaly can be caused by inherited mutations that affect key cellular processes, or environmental exposure to radiation or other toxins. It can also result from viral infection, as exemplified by the recent Zika virus outbreak in South America. Here we summarise a number of the scientific advances presented and topics discussed at the meeting.

Keywords: Cell fate; Centrosomes; Cilia; DNA damage response; Differentiation; Growth defects; Microcephaly; Mitosis; Neurodevelopment; Stem cells.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Centrosome
  • Cilia
  • Congresses as Topic
  • DNA Damage
  • DNA Replication
  • Disease Susceptibility*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Microcephaly / diagnosis
  • Microcephaly / etiology*
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / etiology*
  • Neurogenesis / genetics
  • Phenotype
  • Spindle Apparatus / genetics
  • Spindle Apparatus / metabolism