Clinicians

The Barth Syndrome Foundation of Canada is an affiliate of the Barth Syndrome Foundation, Inc. Together, along with our other international affiliates, we are a world leading source of support for research into the fundamental understanding of Barth syndrome (BTHS), diagnosis and treatments. If you are considering a diagnosis of Barth syndrome or for other reasons want information on this disorder, we can provide you with:

Special Request for Healthcare Providers

The Barth Syndrome Foundation (BSF) plays a unique role as the only organization in the world with the largest cohort of individuals who have Barth syndrome (BTHS), and dissemination about research and phenotype of the disorder.

In an effort to provide healthcare professionals and families alike with an invaluable diagnostic tool we are expanding our current Registry and Repository to:

  • reflect genotype/phenotype relationship
  • include benign variants with ultimate diagnosis of a disorder other than BTHS
  • expedite updates in genetic classifications from “unknown significance”

We need your cooperation to accomplish this goal! We would like to be in contact with you if you are a healthcare professional who has:

  • previously treated or is currently treating an individual with a genetic diagnosis of BTHS
  • previously treated or is currently treating an individual who has had molecular studies with a result of a benign variant of BTHS
  • previously treated or is currently treating an individual who has had molecular studies with a result of an unknown variant of BTHS

For information about adding your mutation(s) to the Table, please see BSF.

For more information about the services we provide, please contact us.

Donate please!

The Barth Syndrome Foundation of Canada is a completely volunteer, charitable foundation. We fund critical research and provide support and information to affected individuals, families, and medical professionals.

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