James German and the Quest to Understand Human RECQ Helicase Deficiencies

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...

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Bibliographic Details
Published in:Cells (Basel, Switzerland) Switzerland), 2024-06, Vol.13 (13), p.1077
Main Author: Monnat, Jr, Raymond J
Format: Article
Language:English
Subjects:
Aging
Biology
Bloom syndrome
Bloom Syndrome - genetics
Bloom's syndrome
Cancer
cancer predisposition syndrome
Chromosomes
Cloning
Collaboration
Disease
DNA helicase
Epidemiology
Genotype & phenotype
History, 20th Century
Humans
Medical research
Mutation
Pathogenesis
progeroid syndrome
RECQ helicase deficiency syndrome
RecQ Helicases - deficiency
RecQ Helicases - genetics
RecQ Helicases - metabolism
RecQ protein
Werner syndrome
Werner Syndrome - genetics
Werner's syndrome
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Summary: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.
ISSN:2073-4409
2073-4409
DOI:10.3390/cells13131077