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A quarter of human genes have been entirely neglected by research

24 September 2018
Appeared in BioNews 968

Of the human genome's 20,000 or so genes, about 2000 have received almost all the attention of biomedical researchers. 

While 10 percent of the human genome attracts ever more scientific attention, a quarter of genes – about 5000 – have not been researched at all, according to a study published in PLOS Biology.

'There's a chance that we are missing out on a lot of interesting biology,' study author Professor Luís Nunes Amaral of Northwestern University, Illinois, told the Atlantic. 

The team identified 430 features of genes – from their size and location in the genome to stability of the protein they encoded – to find out what it was that attracted scientists to study the same ones over and over again. They found that 15 features of a gene could be used to accurately predict the number of publications on that gene, the year of first publication about it and the existence of medical drugs relating to it. 

These features were closely related to how easy it was for a researcher to study the gene, rather than the role the gene might play in disease. The more leg-work had already been done by other scientists on the gene, the more likely that it would attract further interest from scientists.

'People who study these genes have a head start over scientists who have to make tools to study other genes,' Dr Thomas Stoeger, also of Northwestern University and an author of the study, told the New York Times. 

In a vicious circle, the longer scientists study a gene, the easier it gets and the more they can publish about it as they try to establish themselves as academics. The study revealed that in the past 20 years, early-career scientists who focused on the least well-studied genes were half as likely to end up running their own lab. 

Scientists noticed this tendency for researchers to cluster their efforts around a few popular genes as early as 2003, when the Human Genome Project was completed. This was expected to bring a wealth of knowledge about thousands of unexplored genes. However, if the trend does not change, it will take at least 50 years before every gene has been characterised at the most basic level, the researchers estimate.

Dr Purvesh Khatri, a bioinformatician at the Stanford University, California, who was not involved in the study said that the team had done 'a remarkable job' of finding the reasons why many important genes are ignored. 'Their results underscore the need to change how we study human biology,' said Dr Khatri.

The Northwestern University team has already drafted a wish list of genes that, according to their data, deserve further investigation and would be likely to open a great number of research opportunities. 

Large-scale investigation of the reasons why potentially important genes are ignored
PLOS Biology |  18 September 2018
Only a tenth of the human genome is studied
The Economist |  20 September 2018
The Genes That Never Go Out of Style
The Atlantic |  18 September 2018
Why Your DNA Is Still Uncharted Territory
New York Times |  18 September 2018
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