CAMH has applied for international patent protection for the diagnostic test designed by its scientist, Dr. John Vincent and co-inventors, and being developed by Athena Diagnostics.
CAMH said that the physicians using the test will collect a small blood or saliva sample. They are expected to send the sample to Athena Diagnostics for testing to identify mutations on the FHL1 gene. Genetic counsellors will assist the physician to interpret the results for the client and family members, to advise whether family members and offspring are at risk of inheriting the gene.
Vincent, scientist at CAMH, said: “Our test is for a specific muscle disorder that was recently identified. The disorder, X-linked myopathy with postural muscle atrophy (XMPMA), is among many muscular dystrophies and other like conditions with similar symptoms. For that reason these disorders can be challenging to diagnose accurately. The CAMH-Athena test is a new tool to help the physician confirm or eliminate a diagnosis of this XMPMA.”
“Identifying FHL1 mutations as responsible for XMPMA and related disorders was a recent discovery, as was identifying this particular type of muscle disorder. The next step is making an easy-to-use diagnostic tool available to clinicians.”
Bruce Pollock, VP of Research at CAMH, said: “This licensing agreement between CAMH and Athena Diagnostics shows how our CAMH research program helps individual patients and their families, in Canada and internationally as well.”