Episode 8: Genetic testing
Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
- Australian Genomics Health Alliance – genomics info
- Human Disease Genes – website series
- Rare chromosomes and gene disorders (Unique)
- Paediatric Epilepsy Network NSW (PENNSW) – epilepsy information for families and clinicians
- Talk at Genetic Epilepsy conference (GETA 2019) – video
- Parental mosaicism in ‘de novo’ epileptic encephalopathies – journal article
Dr Emma Palmer is a Clinical Geneticist working at the State-wide Genetics of Learning Disability Service, diagnosing the cause of inherited intellectual disability and counselling families. She is a Conjoint Lecturer at the University of New South Wales investigating the application of genomics for severe epilepsy and intellectual disability. She is a Visiting Scientist in the Translational Genomics Group at the Garvan Institute.
In additional to a busy clinical load and two small children, Dr Palmer has growing research expertise with multiple international and national research conference presentations, invited presentations and first-author publications and reviews.
Follow Dr Palmer on Twitter: @emmagentics
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.