12 May 2016
A joint project by the University of Washington (Seattle) and the Garvan Institute of Medical Research is one of six to reach the final of the Open Science Prize, it was announced on Monday. The research team – including Garvan’s Dr Tudor Groza, Craig McNamara and Edwin Zhang – were recognised for their work in developing MyGene2, a website that helps families living with rare genetic disease to find others with mutations in the same gene.
The Open Science Prize is a global science competition that highlights new products or services that make scientific research data broadly accessible to the public. The Prize is a joint initiative of the National Institutes of Health and the Wellcome Trust, with support from the Howard Hughes Medical Institute.
The MyGene2 website aims to support the 300+ million individuals worldwide living with rare disease to uncover a diagnosis. Most rare diseases are Mendelian disorders – meaning that they are caused by mutation in a single gene – but the genes affected are so numerous that only half of all described Mendelian conditions have been linked to a particular gene.
Dr Tudor Groza says, “The upshot of this situation is that many families find themselves on a ‘diagnostic odyssey’, desperately trying to obtain a diagnosis and to understand the underlying cause of the disease that affects them. Often, families turn to social media in an effort to find other families with the same condition or test results – in effect, to find a ‘match’ that can speed up diagnosis and gene discovery – but this process is highly inefficient.”
Dr Groza says that the MyGene2 website – which is free to use – makes it straightforward for families with Mendelian disorders to share information with other families, clinicians and researchers worldwide, in order to find a match. In addition, clinicians can contribute data to MyGene2 on behalf of their patients.
He says, “The platform will revolutionise the way genomic and phenomic data is shared via its radically open data sharing approach, which will accelerate the pace of gene discovery for rare diseases. This will empower families to directly engage with clinicians and researchers and to explore their own data for ‘answers’.”
Finalists in the Open Science Prize are awarded US$80,000 to develop their innovation further over a seven-month period. The team judged to have the prototype with the greatest potential to advance open science following that period will receive a prize of US$230,000.
Dr Groza says that the team will develop MyGene2 in a number of ways over the next seven months.
“Firstly, we intend to align and integrate MyGene2 with existing global data sharing efforts, and in particular with the MatchMaker Exchange initiative of the Global Alliance for Genomics & Health. This will allow families to expand their search to, and increase the chance of finding a match in, platforms that have similar aims to those of MyGene2.
“Secondly, we will work on enabling families to interact with their own genetic data via intuitive visualisation tools.”