In Canada, it is estimated that 1 in40childrenareborn with a rare (genetically inherited) disease. One halfof those children will not reachadulthood.

Collectively, rare diseases are a major(and likely the main)contributor to childhood mortality and morbidity in Canada,with anestimated one in three pediatric hospital bedsoccupied by a childwith a rare disease.It is clear that, collectively speaking, rarediseases are not so rare after all.

There are about 7,000 rare diseases, all with one thing in common: a mutation in a single gene. Human genome sequencing allows for faster, more efficient diagnosis of many rare diseases, however 95% still have no effective treatment—a challenge that Canadian researchers are working hard to tackle.

World Rare Disease Day is February 28^th, and Christopher McMaster, PhD, Scientific Director of CIHR's Institute of Genetics is available to answer your questions.