Inherited retinal dystrophies (IRD) are a group of diseases characterized by loss of photoreceptors resulting in visual impairment or blindness. IRD are clinically and genetically heterogenous making an accurate diagnosis difficult. Genetic testing for these diseases thus becomes important to confirm the type of IRD. A molecular diagnosis can then potentially provide access to gene specific therapy or allow for entry into interventional clinical trials.
For providers, it can be challenging to know when to order genetic testing and what should be included in the test. In this webinar, Senior Manager of Genomic Services, Kim Gall, MSc, CGC, will review this group of disorders, the genetics of IRD, and how to navigate genetic testing to maximize diagnoses in the clinic.
- Describe the different types of inherited retinal dystrophies
- Demonstrate why genetic testing is important in IRD
- Formulate a process to maximize genetic diagnoses in your clinic
Kim Gall, MSc, CGC, is Senior Manager of Genomic Services at Blueprint Genetics. She received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Master of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Ms. Gall worked in a variety of clinical and laboratory settings across Canada before accepting a position as clinical liaison at Blueprint Genetics in 2017.