The Blueprint Genetics team is no stranger to challenging cases. In some situations, extra efforts are needed to uncover, interpret and confirm disease-causing variants to obtain a molecular diagnosis for a patient. These variants may be located in a deep intronic or complex genomic region, or they might be small copy number changes which are difficult to detect.
During this webinar, Senior Geneticist Dr Kirsty Wells and Clinical Liaison Julie Hathaway will describe, through pediatric case examples, some of the team’s most recent efforts at arriving at a molecular diagnosis. These cases demonstrate how teamwork, combined with innovative technology, bioinformatics, and skilled interpretation can solve even the most difficult of cases.
Patient cases include:
- A single exon deletion as the missing second variant in a child with autosomal recessive retinal dystrophy
- A diagnostic variant in a pseudogene-homology region in a child with a neurological disorder
- A mitochondrial DNA deletion clinching the diagnosis in a patient with multiple comorbidities
- A non-coding/deep intronic variant explaining a young boy’s diagnosis of muscular dystrophy
- A low-level mosaic variant explaining the cause of severe, fatal cardiomyopathy in two infants
- Describe the clinical importance of high-resolution CNV analysis in both the nuclear and mitochondrial genome
- Explain how customized methods are needed to detect and confirm disease-causing variants in challenging genomic regions
- Demonstrate how familial testing and providing comprehensive clinical information may assist the analysis and interpretation of variants
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics; before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
Julie Hathaway, MSc, CGC, CCGC, is a Clinical Liaison at Blueprint Genetics. She has over six 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.