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New bioinformatics tool makes study of rare diseases easier

Patients suffering from rare diseases are faced with yet another tragedy. Cures and treatments are not likely to be available before time runs out. That’s partly a matter of economics and partly due to insufficient study material. The very fact that a disease is rare means it ranks low on research budgets and that specimens for study are too few to conduct any meaningful research anyway. The good news is that a new bioinformatics tool is set to be the breakthrough these patients so desperately need.

Center for iPS Cell Research and Application, Kyoto University (CiRA) scientists created a new bioinformatics tool, MHcut -- which is used with commercially available genome-editing tools such as CRISPR/Cas9 -- to generate gene mutations with a high degree of precision.

In other words, scientists can now create rare diseases in the lab for study and experimentation. There will no longer be a need to track down patients with rare diseases across continents and generations to find tiny pieces of information that will hopefully accumulate one day into enough data to provide the tiniest of hope for a cure.  Instead, scientists can quickly create as many disease instances and run as many high compute workloads as needed.

For more insights into how far rare disease research has come, check out this video by Dr. Robert Desnick, Dean for Genetics and Genomic Medicine at the Icahn School of Medicine.

The brains behind the creation of the new MHcut bioinformatics tool are researchers in Kyoto, Japan, and Montreal, Canada. MHcut revealed that “a natural repair system for DNA damage, microhomology-mediated end joining, is probably far more common in humans than originally assumed,” according to a Science Daily report.

“Using MHcut and commercial genome-editing technology, the researchers created mutations in iPS cells with extraordinary precision to model diseases without the need of patient samples. This combination, which can be read about in Nature Communications, will make it much easier to study diseases even when patients are rare or unavailable,” explained the Science Daily report.

But recreating diseases to study them is only half the battle. What remains is to make the research simpler and faster in order to make real progress in record time.

"For orphan diseases, it can be difficult to find patients. Also, it takes time to reprogram the samples to iPS cells. MHcut simplifies the study of rare diseases," said  Associate Professor Megumu Saito in a statement to the press.

This is but one example of the meaningful medical and research breakthroughs made possible by using bioinformatics.

In this case, two bioinformaticians at McGill University in Montreal -- Prof. Guillaume Bourque and Dr. Jean Monlong – were essential to success. They happen to be visiting Japan as part of Kyoto's Top Global University Project just in time to lend much needed analysis to Ph.D. student Janin Grajcarek’s MHcut project.

“The analysis could not have proceeded as quickly as it did if Jean and Guillaume hadn't been in Kyoto just at the point when we needed bioinformatics support. This research shows the power of collaborating across disciplines and countries," Grajcarek said.

New bioinformatics tool makes study of rare diseases easier

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