James German and the Quest to Understand Human RECQ Helicase Deficiencies

Cells. 2024 Jun 21;13(13):1077. doi: 10.3390/cells13131077.

Abstract

James German's work to establish the natural history and cancer risk associated with Bloom syndrome (BS) has had a strong influence on the generation of scientists and clinicians working to understand other RECQ deficiencies and heritable cancer predisposition syndromes. I summarize work by us and others below, inspired by James German's precedents with BS, to understand and compare BS with the other heritable RECQ deficiency syndromes with a focus on Werner syndrome (WS). What we know, unanswered questions and new opportunities are discussed, as are potential ways to treat or modify WS-associated disease mechanisms and pathways.

Keywords: Bloom syndrome; RECQ helicase deficiency syndrome; Werner syndrome; cancer predisposition syndrome; progeroid syndrome.

Publication types

  • Review
  • Historical Article

MeSH terms

  • Bloom Syndrome* / genetics
  • History, 20th Century
  • Humans
  • RecQ Helicases* / deficiency
  • RecQ Helicases* / genetics
  • RecQ Helicases* / metabolism
  • Werner Syndrome* / genetics

Substances

  • RecQ Helicases