Abstract
There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead.
Many of the achievements in the history of genetics have been made as a result of compelling inspirations followed by brilliant innovations. In fact there are abundant instances to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. Gregor Mendel's (1822–1884) prominent work on pea plants was inspired by the influence of his mentors and the affection for nature and gardening, 1 Francis Crick (1916–2004) moved to biology from physics after reading the book What is life?, and this ended in his deciphering the genetic code together with James Watson (1928–), 2 and the idea of using primer pairs for DNA amplification sparked Kary Mullis (1944–) while he was driving along a mountain road in California. 3
Genetics in medicine is certainly remarkable in this regard due to the fact that has been encouraged by the extremely close interaction of medicine and science for detailed molecular characterization of genetic disorders to help individual patients. In the history of the autosomal recessive disorder, phenylketonuria, for example, this interaction of medicine and science, boosted by patient-related inspirations, led to the discovery, treatment and development of the screening test. Asbjörn Fölling (1888–1973) and Horst Bickel (1918–2000) who discovered and treated, respectively, the disease for the first time were both motivated by persistent mothers of affected children and Willard Centerwall and Robert Guthrie (1916–1995) who invented the newborn screening tests were inspired by their own children with intellectual disability.4,5 The enthusiasm of parents has spurred on significant discoveries in a variety of other genetic disorders, including X-linked adrenoleukodystrophy. 6
To nominate a mentor in medical genetics as the global source of inspiration for moving genetics from research labs into the clinics, Victor A McKusick (1921–2008) (Figure 1), the father of medical genetics, certainly deserves it. Interestingly, he himself was inspired to study medicine by the physicians who saved his life after a serious infection at the age of 15.
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The pioneer of cancer genetics, Bert Vogelstein (1949–), was inspired to pursue research by his frustration at being unable to explain cancer and to tell patients why they had it. His research together with Kenneth Kinzler, properly, led to the discovery of key mutations in oncogenes and tumour suppressor genes including TP53, formed the paradigm for much of the modern cancer genetics.
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Victor McKusick (holding the paper) with genetics fellows examining phonocardiographic findings (1965). He was decades ahead of his time: establishing medical genetics clinic, inventing spectrophonocardiography, prescient call for mapping the human genome, and pioneering the use of computers in publishing and the medical use of the internet. He made major contributions to both medical and molecular aspects of genetics. (From the Alan Mason Chesney Medical Archives: Victor Almon McKusick Collection. http://medicalarchives.jhmi.edu:8080/webcat/systems/jhmi/resource/0115620a.jpg, accessed 19 February 2014).
Harry Angelman (1915–1996), in another perspective, was inspired by the power of art. He felt something in common in three handicapped children who he saw and then an oil painting in the Castelvecchio museum at Verona, a boy with a puppet (Figure 2), gave him the idea of writing the article Puppet Children.
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Puppet children with smiling face and jerky movements are now diagnosed with Angelman syndrome with aetiology and prognosis now defined.
The oil painting, ‘a boy with a puppet' kept in the Castelvecchio museum in Verona, Italy, gave Harry Angelman the idea of writing the article ‘Puppet Children.' The Puppet children with smiling face and jerky movements are now diagnosed with Angelman syndrome. (http://en.wikipedia.org/wiki/Angelman_syndrome, accessed 19 February 2014).
These few examples come from many that have evolved our knowledge of genetic disorders and consequently a variety of specific diagnostic, preventive and therapeutic approaches have emerged. There remains a long pathway ahead.
Footnotes
Acknowledgments
I dedicate this comment to my parents, to my fiancée and to my mentor in medical genetics who have inspired me at different stages of my life.
Author biography
Captive Memories (ISBN 9781910837009; Palatine, Lancaster, 2015) by Meg Parkes and Geoff Gill, is based on an oral history study in which former Far East Prisoners of War (FEPOW) were interviewed, most in their 80s or 90s. The testimony of these survivors includes details on the medical problems they faced during captivity and the remarkable ingenuity shown in trying to address these problems in the most adverse conditions. This is a compelling read, illustrated with contemporary drawings made in secret and at great risk to the artists (see also the website, www.captivememories.org.uk). The health problems faced by FEPOW in the decades following their release are also recounted, based on studies performed at the Liverpool School of Tropical Medicine.