Rare Disease Day: February 28

February 25, 2010 at 5:52 pm Leave a comment

Rare Disease Day (Sunday, February 28) is fast approaching and organizers want to do one thing:  raise awareness of rare diseases and of their impact on the lives of those suffering from them.

A disease is considered rare if it affects fewer than one in 2000 people. Current estimates say there are about 7000 rare diseases in existence and since  many of them are poorly understood there is a sense of isolation amongst the sufferers.

Researchers at BC Children’s Hospital have found that studying rare disease is not without broader benefits: research can reveal previously unknown biological pathways. Research is the brightest hope that sufferers have, so show your support by getting involved.

Dr. Cornelius Boerkoel is a Senior Clinician Scientist at the Child & Family Research Institute, working on defining the cause of and potential therapies for inherited human diseases.

His research investigates the genetics behind rare diseases and he is an international expert on Schimke immuno-osseous dysplsia (SIOD), a rare and fatal form of dwarfism.

Dr. Boerkoel has found that the complications of SIOD are similar to conditions seen in the general population such as stroke, kidney failure and immunodeficiency. His research is relevant to finding a better understanding of the genetic pathways that underlie this common health problems.

Part of Dr. Boerkoel’s work is funded by the Rare Disease Foundation which was established in February 2009 and whose goal is to change the lives of children and families affected by rare and undiagnosed diseases through social support, advocacy and treatment-focused research.

For more information, please visit the Rare Disease Foundation page.

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Entry filed under: Angelina, At the Hospital.

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