4.4 Review

A Journey Through Genetics to Biology

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ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-010622-095109

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autobiography; gene mapping; eye development; genes in disease; gene regulation; gene networks; model organisms

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The author expresses a strong interest in human genetics and highlights the importance of collaboration, clinical observations, and experimental validation in the field.
Although my engagement with human genetics emerged gradually, and sometimes serendipitously, it has held me spellbound for decades. Without my teachers, students, postdocs, colleagues, and collaborators, I would not be writing this review of my scientific adventures. Early gene and disease mapping was a satisfying puzzle-solving exercise, but building biological insight was my main goal. The project trajectory was hugely influenced by the evolutionarily conserved nature of the implicated genes and by the pace of progress in genetic technologies. The rich detail of clinical observations, particularly in eye disease, makes humans an excellent model, especially when complemented by the use of multiple other animal species for experimental validation. The contributions of collaborators and rivals also influenced our approach. We are very fortunate to work in this era of unprecedented progress in genetics and genomics.

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