Copyright: © 2025 by the authors. Licensee: Pirogov University.
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OPINION

The terms "dominant" and "recessive" should be avoided due to gene therapy

Gamisonia AM, Rebrikov DV
About authors

Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russia

Correspondence should be addressed: Alina Mukhadinovna Gamisoniya
Ostrovityanova, 1, Moscow, 117997, Russia; ur.liam@ayinosimagma

About paper

Funding: This work was supported by the State Assignment of the Ministry of Health of the Russian Federation, Registration No. 123021500064-0, "Development of technology for personalized gene therapy drugs based on the AAV platform and drugs for the treatment of Sanfilippo syndrome and multiple epiphyseal dysplasia."

Acknowledgements: The authors are grateful to Sergey Glagolev for his critical comments

Author contribution: Gamisoniya AM — analysis and summary of literature data, manuscript writing, manuscript design; Rebrikov DV — critical revision and editing of the manuscript.

Received: 2025-10-23 Accepted: 2025-10-23 Published online: 2025-10-31
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The accumulation of scientific data can conflict with theoretical propositions, requiring their revision. Ptolemy's model of celestial motion was repeatedly "upgraded" until the paradigm fundamentally changed. Today, we not only understand the structure of the solar system but also see the universe across fourteen billion lightyears. Similarly, phenotype-based medical genetics still operates with concepts such as dominance, recessiveness, penetrance, expressivity, complementarity, epistasis, and so on. These are descriptive terms of limited accuracy, which are redundant and often confounding in clinical settings. This opinion article re-examines the relationship between molecular inheritance and its phenotypic manifestations in light of the growing role of gene editing and gene therapy. We believe that the use of the classical terms “dominant” and “recessive” in a medical context should be avoided as non-informative and possibly misleading in terms of clinical decisions and treatment choices.

Keywords: genome editing, dominant, recessive, genotype, phenotype, loss-of-function, gain-of-function, haploinsufficiency, dominant-negative effect, clinical genetics, compensatory gene therapy

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