Research Into Rare Diseases of Childhood

Rare diseases: Canada’s “research orphans”

➣ Although definitions vAry by jurisdiction, diseAses that affect approximately 1 in 2000 people are considered rare. 1 Canada is one of only a few developed countries without a national " orphan drug " program to protect patients with rare diseases from exorbitant drug costs. Public debate concerning government funding for these drugs is periodically stimulated by stories of patients who are d...

Intractable and rare diseases research.

Intractable diseases, literally derived from the Japanese word 'nanbyo', mainly refer to rare diseases that have resulted mostly from unidentifiable causes and/or lack of clearly established or curable treatments. Currently, it is estimated that there are 5,000-7,000 distinct rare diseases worldwide, of which 80% have been identified as having genetic origins and 50% occuring in childhood and l...

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services, clinicians and the wider community. Accurate data are required to inform clinical practice, government policy and health service planning. We recommend a national approach, similar to that adopted in the USA and Europe, to support research and...

Integration of Rare Diseases into Social Services

Jumpstarting Research into Neglected Diseases

Unwilling to wait and hope for a cure, patients suffering from rare or little-studied diseases and their families are galvanizing research efforts and driving innovative approaches to develop new treatments.