Book Review: A Century of Geneticists — Mutation to medicine

Sir Isaac Newton's famous quote 'If I have seen further, it is by standing on the shoulders of giants' pays homage to the early scholars whose work paved the way for Newton's own discoveries. This sentiment can be applied to all scientific disciplines, yet in the fast-paced world of science today it is easy for the historical foundations of each discipline to become lost amongst the noise of new developments.

Dr Krishna Dronamraju, honorary research fellow at University College London, has written 'A Century of Geneticists – Mutation to Medicine' to celebrate the lives of 21 notable geneticists who have shaped the field of genetics over the last 100 years.

In the introduction to the book, Dr Dronamraju discusses the value that can be gained from exploring the historical roots of genetics research. He urges the reader to learn from 'the successes and failures of those who preceded us' and states, 'we must avoid the mistakes made in the past. Where progress has been made, we should try to understand the circumstances and how they have contributed to that success'.

The book is divided into seven themed sections, which are arranged in a loose chronological order: beginnings, population genetics, biochemical genetics, molecular biology, radiation genetics, transposons and the application of genetics. Each section consists of a series of stand-alone chapters, which focus on the life and work of one of the 21 featured geneticists. The independent nature of the chapters allows the book to be read in any order should the reader be inclined to do so.

While Dr Dronamraju has included many of the 'big names' from the field of genetics, such as Thomas Hunt Morgan, JBS Haldane, Francis Crick and James Watson, I was pleasantly surprised to be introduced to a significant number of geneticists whose work I was unfamiliar with. The chapters dedicated to the work of Dr Barbara McClintock and Sir Archibald Garrod were particularly interesting.

Dr McClintock was an extremely prolific research scientist and I am amazed that she is not discussed more frequently. By using maize as a model organism, Dr McClintock demonstrated that genetic material was exchanged between chromosomes during meiosis leading to 'genetic reshuffling' and the presence of new traits in the resulting offspring. This finding was extremely important as it confirmed that genes were located on chromosomes, which, up until that point in time, was only a hypothesis.

Dr McClintock also discovered that some genes can change their position within the genome. The identification of these extraordinary elements, known as transposons or 'jumping genes', challenged the concept that the genome was a 'static set of instructions'. Perhaps unsurprisingly, Dr McClintock's work was met with strong criticism from the scientific community, and the geneticist made the decision to stop publishing her work on transposons in 1953. It took a further 30 years for the research community to catch up with Dr McClintock, who was eventually awarded the Nobel Prize for her work in 1983.

Professor Garrod, a London physician, was also ahead of his time. Professor Garrod discovered that alkaptonuria, a metabolic disorder characterised by urine that turns black when exposed to air, was a genetic condition and not caused by a bacterial infection as previously thought. He noted that all of his alkaptonuria patients were born to parents who were in a consanguineous relationship (specifically, first cousins) and recognised that Mendel's theory of inheritance could explain the disease pattern within these families.

This connection between consanguinity and the recessive nature of some diseases suggested that genes may be responsible for the production of enzymes; however, this hypothesis was not formally investigated for a further 40 years. Mendel's research was not well understood by the wider scientific community at the time, which sadly prevented the significance of Professor Garrod's findings from being recognised and built-upon.

One striking theme that runs through many of the featured biographies is the substantial progress that these individuals were able to achieve on their own, or with small research teams, and limited funding. Dr Dronamraju acknowledges the dramatic transformation that has occurred within the research field over the last century by stating 'It [research] has become a complex endeavour, requiring large sums of money, multiple technologies, and numerous authors with different technical skills. This makes it even more imperative to pause and appreciate the impact of these giants of the last 100 years'.

Overall, the book is based on extensive research and is packed full of facts about each of the 21 featured geneticists. The academic nature of the text may not appeal to a lay audience, however, medical historians and those with a significant interest in the history of genetics would most likely enjoy Dr Dronamraju's keen eye for detail.

Buy A Century of Geneticists: Mutation to Medicine from Amazon UK.