Study shows why some human genes are more popular with biomedical researchers



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Historical biases lead biomedical researchers to study certain genes over and over again

According to a study published September 18 in the journal open access PLOS Biology, led by Thomas Stoeger, biomedical bias is the main reason why biomedical researchers continue to study the same 10% of all human genes. and Luís Amaral of Northwestern University and his colleagues. This bias is reinforced by funding mechanisms for research and social forces.

Hot and cold regions of biology. Genes (points) are mapped according to generic chemical and biological characteristics. Blue indicates cold regions, where genes are studied less frequently than expected assuming that each gene would be studied to the same extent. Credit: Thomas Stoeger

Recent studies in other laboratories have revealed that researchers are actively studying only about 2,000 of the approximately 20,000 genes encoding human proteins. The researchers therefore sought to know why. The researchers compiled 36 distinct resources describing various aspects of biomedical research and analyzed the vast database for answers.

The team found that well-intentioned policy interventions to promote exploratory or innovative research actually lead to further work on the most established research themes – these genes first characterized in the 1980s and 1990s. before the completion of the human genome project. Researchers also found that postdoctoral fellows and PhDs Students who focus on poorly characterized genes are 50% less likely to become independent researchers.

"We have discovered that current research on human genes does not reflect the medical importance of genes," Stoeger said. "Many genes with very high relevance to human disease are still not studied. Instead, social forces and funding mechanisms reinforce the focus of current science on previous research topics.

Researchers applied a systemic approach to data – which included chemical, physical, biological, historical and experimental data – to uncover underlying trends. In addition to explaining why some genes are not studied, they also explain to what extent an individual gene is being studied. And they can do it for about 15,000 genes.

The Human Genome Project – the identification and mapping of all human genes, completed in 2003 – promised to expand the scope of scientific studies beyond the small group of genes studied by scientists since the 1980s. But Northwestern researchers have found that 30% of all genes have never been studied scientifically and that less than 10% of genes are the subject of more than 90% of published articles. And this despite the increasing availability of new techniques to study and characterize genes.

"Everything was supposed to change with the human genome project, but everything remained the same," said Amaral, professor of chemical and biological engineering at Erastus Otis Haven and co-author of the study. "Scientists continue to go to the same place, studying the same genes. Should we focus all our attention on this small group of genes?

With researchers focused on only 2,000 human genes, the biology encoded by the remaining 18,000 genes remains largely uncharacteristic. The researchers note that some of these genes include an under-researched breast cancer gene cluster and lung cancer-related genes that may be at least as important as the well-studied genes.

"The bias to study exactly the same human genes is very high," said Amaral. "The whole system fights against the very purpose of agencies and scientific knowledge, namely to broaden the set of elements that we study and understand. We must make a concerted effort to encourage the study of other genes important for human health. "

In the future, the Northwestern team is developing a public resource that could help identify poorly studied genes that may be critically important to specific diseases. The resource includes information on any extraordinary chemical property, if a gene is very active in a specific tissue and if there is a close connection with a disease.

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