Experiences of Patients with Rare Disease

Preferences and the Value of Whole-Exome Sequencing as a Diagnostic Tool for Rare Diseases

The aim of our study is to explore and understand the perceptions and opinions of patients with rare diseases regarding the value of obtaining a diagnosis. Furthermore, we would like to understand the value of using technologies such as whole-exome sequencing (WES) in providing a clinical diagnosis for patients with rare diseases. It is part of the CARE for RARE project, a pan-Canadian project promoting the use of a new genetic technology for diagnosing rare diseases.

We are looking for input from patients and parents of patients with rare disease in Ottawa, Calgary and Edmonton.

For more information email Kathleen Charlebois

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