Opening the Black Box:
Watch KOLs discussing their thoughts on their hopes for the future of precision medicine
Select a question to be answered and press play.
When you see a patient, what makes you think they might have a genetic disorder?
It’s mainly children who get tested. Is there a benefit for adults to be tested?
Do you prefer to use whole exome sequencing, or whole genome sequencing?
What is precision medicine?
What therapies are there now and what can we expect in the next few years?
Are there disorders that are particularly amenable to precision medicine?
How important is the patient voiceand how can patients help research through advocacy?
What excites you about the next 5-10 years of genomics?
Select a question to be answered and press play.
When you see a patient, what makes you think they might have a genetic disorder?
It’s mainly children who get tested. Is there a benefit for adults to be tested?
If you refer someone for genomic testing, what do you use, and what do you tell them about the limitations of genomics?
What is gene therapy and how is it different to precision medicine?
What gene therapies will be available for epiliepsies in the next few years?
Why is epilepsy so amenable to precision medicine?
What excites you about the next 5-10 years of genomics?
Select a question to be answered and press play.
What or who inspired you to work in the field of neurology in general and cerebral palsy in particular?
Cerebral palsy is traditionally thought of as a brain injury in a child at or around birth, and the injury is non-progressive. However, we now know that there are significant genetic drivers behind CP. Can you explain what a genetic cerebral palsy is and what is similar and different from CP caused by brain injury.
Do you think the lack of genomic investigation into CP is a result of it being traditionally thought of as a non-reversible brain injury and therefore only the patients’ symptoms have been considered for treatment, such as speech and language and physiotherapy?
Are there lessons to be learned from how epilepsy was similarly considered a few decades ago – to be “unlucky”? Do you envisage a similar path for CP using genomics?
How do you think getting a genomic diagnosis can help first, people and second, caregivers affected by cerebral palsy, even if there are no current therapy avenues available?
However, there are already some genetic disorders for which there are specific therapeutic interventions. Can you name some, specifically for cerebral palsy?
How do you see engagement with patients and families improving the quality and relevance of research?
What excites you about cerebral palsy and precision medicine in the next five to ten years?
What do you do in your free time to relax and forget about work?
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What or who inspired you to work in the field of epilepsy?
How do you think getting a genomic diagnosis can help first, people and second, caregivers affected by epilepsy, even if there are no current therapy avenues available?
From your perspective as CSO at CURE Epilepsy but also as a patient advocate, have you seen engagement with patients and families improving the quality and relevance of the research?
Is it difficult to juggle all the demands of your career and remain positive and passionate about epilepsy?
There are a lot of epilepsy groups out there that do great research for important causes. How would you respond to someone who asked you why CURE Epilepsy is important?
What would you say are your five to ten years goals at CURE Epilepsy?
What excites you about epilepsy and precision medicine in the next five to ten years?
What do you do in your free time to relax and forget about work?
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