Reminders

Rare Disease Day Celebration

By Bill McKellin – February 29, 2012
OfflineBill McKellin

Researchers funded by Rare Disease Foundation Micorogrants will present the results of their studies February 29, 2012, 6:00-8:30pm
Join us at BC Children's and Women's Hospital or log into our webcast.

Login to the community to view the  Rare Disease Day Webcast

BC Women's and Children's Hospital
Lobby of the Chan Education Centre at the Child and Family Research Institute
February 29, 2012, 6:00-8:30pm

The Rare Disease Foundation believes in the power of a small amount of money carefully spent to make a big difference in the lives of individuals and families with rare diseases. 

Dr. Jacob Rozmus: "How Genetic Technologies can help us diagnose rare diseases"
A Rare Disease Foundation microgrant helped to make the correct diagnosis in a girl with a rare immune deficiency disease which made a big difference in her treatment

Emily Morris: "Medical Geneticists' discussion of psychiatric risks during diagnosis of 22q deletion syndrome"
A Rare Disease Foundation microgrant helped to assess how psychiatric disease is discussed among the many other medical concerns in a specific medical condition.

Dr. Hal Siden:  "A standardized approach to idiopathic pain/irritability in Children with Rare Neurological Conditions."
The medical director of Canuck Place, the children's hospice, discusses how pain can be managed in children with rare conditions.

Dr. Clara van Karnebeek:  "On a mission to improve health outcomes of rare disease patients suffering intellectual disability"
A Rare Disease Foundation microgrant funded a pilot project on identifying metabolic diseases which can be treated. The preliminary data was used to obtain a much larger grant to continue this work. An ongoing clinic where multiple specialists assess patients who have a potentially treatable condition has also been established.

 

About the author

Bill McKellin

I am the father of twins, one of whom has a rare form of dwarfism. I am a founding board member of the Rare Disease Foundation. I am also a medical anthropologist interested in the ways that people…

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February 29, 2012
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Bill McKellin

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