The Canadian chapter of the history of human genomics

Miguel Garcia-Sancho, PI of the TRANSGENE project and lead investigator of the human genome strand, visited Toronto and Montreal last April to conduct historical research and participate in an interdisciplinary workshop on medical innovation. He visited the archives of the University of Toronto Hospital for Sick Children and conducted oral histories with two of its researchers. In Montreal, he attended a workshop on Contexts of Technological Change in Medicine, jointly organised by McGill University and the Jewish General Hospital.

The reason for visiting Toronto was that the Hospital for Sick Children features as one of the most densely connected institutions in the network visualisations that the TRANSGENE team is now analysing. These visualisations reflect co-authorship relations in articles that describe for the first time new human, pig and yeast DNA sequences in the scientific literature. Finding a Canadian institution in such a prominent role was somehow a surprise. Miguel later found that a collaboration between Francis Collins – who would later become Director of the Human Genome Project in the US – and researchers at the Hospital for Sick Children resulted in the description of the cystic fibrosis gene in 1989.

A fragment of the co-authorship network displaying the University of Toronto Hospital for Sick Children (upper-right corner)

During his visit to Toronto, Miguel interviewed two scientists heavily involved in the cystic fibrosis story: Johanna Rommens and Stephen Scherer. Both of them were young at the time the gene was described and witnessed the events that followed the 1989 Science publication. A striking characteristic of the co-authorship networks was that collaboration between the University of Michigan – where Collins was based during the cystic fibrosis work – and the Hospital for Sick Children did not seem quantitatively relevant during the 1990s. Rommens and Scherer accounted for this by explaining that Collins shifted his interests to other genes and the Hospital became involved in the mapping and sequencing of human chromosome 7.

Scherer, a student during the cystic fibrosis discovery, undertook a leading role in the chromosome collaboration and forged an alliance with Craig Venter, the CEO of Celera Genomics, who was then seeking the involvement of teaching hospitals in his quest to sequence the whole human genome. In 2003, an article describing the full sequence of chromosome 7 was published in Science under the lead authorship of Scherer, and contributions from Venter and other researchers from Celera, the Massachusetts General Hospital and the John Radcliffe Hospital in Oxford, among others. Unlike the publications from the public and charity-funded Human Genome Sequencing Consortium, the article by Scherer and colleagues focused on the variability in the chromosome sequence and its connection to different hereditary diseases.

The oral histories were combined with work at the archives. More than 800 records were explored, among them the annual reports of the Hospital’s Research Institute and Department of Genetics, as well as the Papers and Correspondence of Lap-Chee Tsui, a Taiwan-born researcher who led the cystic fibrosis group. The archival materials also included funding applications, reviews of the different research units at the Hospital and oral histories with retired staff, mainly the former head of the Genetics Department, Manuel Buchwald. These records, along with the oral histories, will be fed into the further analysis of the co-authorship networks, in order to obtain insights from the combination of quantitative and qualitative evidence.

Miguel Garcia-Sancho at the Archive of the Hospital for Sick Children (Toronto)

After a train trip across the Eastern fields of Canada, Miguel presented the human genome strand of the project in Montreal. The workshop explored how, in spite of official policies, medical innovation often comes from the margins, rather than the centres of knowledge production and undertakes unexpected trajectories. It was organised by Thomas Schlich, a historian of surgery at McGill University and Lawrence Rosenberg, a surgeon at the Jewish General Hospital. Speakers included medical practitioners, historians of biology and medicine and sociologists of innovation.

A view from Mount Royal

Latest Blog Posts

New publication: 'Sequencing Through Thick and Thin'

The first peer-reviewed publication arising from the TRANSGENE project has now been published online by the journal Studies in History and Philosophy of Biological and Biomedical Sciences. Entitled 'Sequencing through thick and thin: Historiographical and philosophical consequences', the paper by James Lowe details a more inclusive conception of DNA sequencing … (Read more)


TRANSGENE on European genomics

At the recent conference of the European Society for the History of Science in London, the TRANSGENE team organised a symposium chaired by Robert Bud on the crucial role of European transnational collaboration in the history of genomics. We argued that the narrative that equates genomics with human genomics, and … (Read more)


TRANSGENE goes to the Fringe

On 22nd August, TRANSGENE took part in the Edinburgh Festival Fringe, the largest arts festival in the world. As part of the ‘Cabaret of Dangerous Ideas’ strand, James Lowe presented a show entitled ‘Will Pigs Save Our Bacon?’ at The Stand’s New Town Theatre on George Street. The Cabaret of … (Read more)


The future of sustainable food production?

On July 18th, I attended a horizon-scanning workshop on food sustainability hosted by the Nuffield Council on Bioethics. The aim of the meeting was to scope out the challenges facing food sustainability over the medium and long-term, and to examine what biological research and innovation is being conducted to try … (Read more)


The Canadian chapter of the history of human genomics

Miguel Garcia-Sancho, PI of the TRANSGENE project and lead investigator of the human genome strand, visited Toronto and Montreal last April to conduct historical research and participate in an interdisciplinary workshop on medical innovation. He visited the archives of the University of Toronto Hospital for Sick Children and conducted oral … (Read more)


Exploring pig genetics in France

At the end of November, I followed in the footsteps of many of the pig geneticists whose work I have been researching, and visited the Jouy-en-Josas campus of the French Institut national de la recherche agronomique (INRA), just south of Paris. At there and other INRA sites in Paris itself, … (Read more)


Advisory Board Meeting and Second Phase of Project

First Advisory Board meeting The TRANSGENE team presented its first findings to an Advisory Board comprised by Stephen Hilgartner (Cornell University), Robert Bud (Science Museum, London), Michel Morange (University Paris 6 and Ecole Normale Superieure), Abigail Woods (King’s College, London) and Hans-Jörg Rheinberger (Max Planck Institute for the History of … (Read more)


The unusual pioneer of the Human Genome Project

When we think about prime-movers, proposing for the first time the idea of scientifically tackling the human genome, the usual suspects come to our mind: reputed biomedical Nobel Prize winners such as James Watson, Walter Gilbert or Renato Dulbecco, who formulated their grand idea in the front pages of Science, … (Read more)


TRANSGENE on tour

…at the British Society for the History of Science conference Amongst the sizeable Edinburgh contingent at the annual British Society for the History of Science conference, this year held in York, were representatives from the TRANSGENE project team. Miguel García-Sancho presented the progress on the yeast strand of the project … (Read more)


June events

The TRANSGENE project operates within the Science, Technology and Innovation Studies (STIS) subject group at the University of Edinburgh. This multidisciplinary affiliation, and association with the Institute for the Study of Science, Technology and Innovation (ISSTI) research network, enables us to discuss our work with researchers that have a wide … (Read more)


Classifying people, practices and institutions

Just as classifications of species, genes, stages of development, or macromolecules can shape research in biology, classification in the humanities and social sciences can condition our analyses. In the pig strand of the project I’m working on, classifying people, practices and institutions is necessary. My aim is to explain, so … (Read more)


The yeast telomeres

Writing the history of the yeast genome project starting from the end, more precisely the chromosome ends, can be an instructive exercise. Chromosome ends (telomeres) are specialised structures essential for chromosome maintenance and genome stability. As yeast telomeres are similar in structure and function to the telomeres of the other … (Read more)


Collaborating with the European Bioinformatics Institute (EMBL-EBI)

In March 2017, I am conducting a three-week visiting post-doctoral fellowship at the European Bioinformatics Institute (EMBL-EBI, Cambridge UK), for the bibliometric and “big data” strand of the project. I am collaborating with the EBI’s Literature Services to advance the project’s aims of mapping institutional networks in genomic sequencing initiatives … (Read more)


The history of pig genome research enters the matrix

In the TRANSGENE project we are committed to using approaches from different disciplines to make sense of the historical material, and to generate new data from which to form a picture of the genomic research. One of the key approaches is the use of quantitative methods, imported from the social … (Read more)


Tracing the history of European biotechnology in the HAEU

My week-long visit to the Historical Archives of the European Union (HAEU) in Florence has proved to be a remarkable opportunity for investigating the ‘behind the scenes’ of European biotechnology policies in the 1980s and 1990s. During my visit in Florence I mainly examined documents available in the Gordon Adam’s … (Read more)


Scientific archives and the history of genomics

In November 2016 Miguel Garcia-Sancho, James Lowe and I attended the Workshop on Scientific Archives organised by Anne Flore-Laloë, archivist at the European Molecular Biology Laboratory (EMBL) in Heidelberg. The meeting brought together tens of archivists from Germany, France, Switzerland, UK, US and Canada. The workshop presentations focused on best … (Read more)