In Canada, it is estimated that 1 in 40 children are born with a rare (genetically inherited) disease. One half of those children will not reach adulthood.
Collectively, rare diseases are a major (and likely the main) contributor to childhood mortality and morbidity in Canada, with an estimated one in three pediatric hospital beds occupied by a child with a rare disease. It is clear that, collectively speaking, rare diseases 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 28th, and Christopher McMaster, PhD, Scientific Director of CIHR's Institute of Genetics is available to answer your questions.