We know that despite best efforts, an important number of patients with cardiomyopathies are still left without a molecular diagnosis after comprehensive genetic testing. This has important implications for both the patients and their families, as gene-specific management recommendations are becoming increasingly common.
In this educational webinar, Blueprint Genetics Clinical Liaison Julie Hathaway, MSc, CGC, CCGC, presents recent work in genetic cardiomyopathies, including new gene discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies, and define risks for family members.
- Summarize the most recent findings which associate the NRAP gene and dilated cardiomyopathy
- Describe the prevalence of RASopathy variants in our recent HCM cohort publications and the implications for clinical practice
- Evaluate how the role of novel genes or different variant types in known genes are likely to impact the treatment and management of families with cardiomyopathies
Julie Hathaway, MSc, CGC, CCGC, is a clinical liaison at Blueprint Genetics. She has over 6 years’ experience working in cardiac genetics; her past roles include both program coordinator and genetic counselor in a provincial multidisciplinary inherited arrhythmia program. Julie is an American and Canadian board-certified genetic counselor.
More details here