All-New Canadian Rare Disease Research Platform Begins Operations

According to a story from Gene42, a new rare disease platform called Genomics4RD has been launched in Canada. This is the first national research platform dedicated to rare disease to be released in Canada. The platform was launched by Care4Rare, a Canadian team dedicated to personalized medicine and genomics. Gene42, a software company, spearheaded development.

Improving Rare Disease Research and Diagnostics

The release of the platform in February 28th, 2019, coincides with Rare Disease Day. Around a million Canadians are believed to be affected by genetic rare diseases. The ultimate goal of the Genomics4RD platform is to help facilitate innovative diagnostic care for rare diseases in Canada. Diagnosis is often one of the greatest challenges when it comes to treating rare diseases effectively. Diagnosis is often delayed, sometimes by years, to due a lack of awareness about rare diseases. Unsurprisingly, this can have dire consequences for patients.

The platform also aims to help identify the genetic causes of poorly known rare diseases. Another goal of Genomics4RD is to make genomic testing, which is often vital for diagnosing rare genetic diseases, more widely available to the Canadian population in general. Gene42, the software developer, was able to utilize its proprietary PhenoTips software, which is optimized for use in the medical field, in order to organize and store critical data from thousands of people. This data includes genotypic and phenotypic information as well as medical and health records.

Genomics4RD will be a major boost for rare disease scientists and researchers in Canada. These researchers will be able to use the platform to collaborate in order to make new discoveries more quickly. Researchers can also easily contribute case data that they find valuable. The platform is also designed to work with a network called Matchmaker Exchange, which includes a number of rare diseases databases.

The potential of Genomics4RD is significant in that it will make rare disease research a more streamlined and efficient process in Canada. In addition, it will also allow for rare disease diagnoses to be made more quickly. A quicker diagnosis means that treatment can be started earlier which translates into more lives saved and better patient outcomes. 

To learn more about the platform, check out its website here.


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