UCL Institute of Ophthalmology, University College London, London, United Kingdom.
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; email:
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:1-27. doi: 10.1146/annurev-genom-010622-095109. Epub 2022 May 13.
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.
虽然我对人类遗传学的兴趣逐渐产生，有时甚至是偶然产生的，但它已经让我着迷了几十年。如果没有我的老师、学生、博士后、同事和合作者，我就不会写这篇回顾我科学冒险的文章。早期的基因和疾病定位是一项令人满意的解决问题的练习，但建立生物学洞察力是我的主要目标。该项目轨迹受到所涉及基因的进化保守性质以及遗传技术进步速度的巨大影响。临床观察的丰富细节，特别是在眼部疾病中，使人类成为一个极好的模型，特别是当与其他多种动物物种的使用相结合以进行实验验证时。合作者和竞争对手的贡献也影响了我们的方法。我们非常幸运地生活在遗传学和基因组学空前发展的时代。
