Meet Dr Karda
“Fundraising is essential because, without our fundraisers, the research we’re doing wouldn’t be possible.”
Dr Rajvinder Karda and her team are currently researching gene therapy development for Dravet syndrome, an inherited childhood epilepsy. The project is co-funded by Dravet Syndrome UK and Sparks through the GOSH Charity and Sparks National Call.
This rare, incurable condition is mainly caused by a gene mutation known as ‘SCN1A’. In the UK, Dravet syndrome is thought to affect one in 15,000 live births and up to three in 500 children with epilepsy are likely to have this particular type.
What is it?
Dravet syndrome is a severe form of epilepsy affecting young children and can lead to life-long disabilities.
The symptoms range from prolonged seizures, severe cognitive impairment and, occasionally, premature death. Developmental delays, autism, sleep problems, ADHD and immune problems can arise from the genetic mutation. The seizures, which can last longer than 30 minutes, begin in children aged around six to ten months old. Between the ages of 1 and approximately 5 years the seizures become frequent and behaviour deterioration occurs.
“The symptoms patients exhibit depends on where the mutation is seen,” Dr Karda explains. “Specific mutations can lead to severe symptoms, sometimes leading to lifelong disability or the need for constant care, impacting the quality of life for both the patients and their parents.”
Can it be treated?
Dravet syndrome is a form of epilepsy that is more resistant to existing epilepsy medication.
“However, there are some treatments available for Dravet syndrome,” Dr Karda says. “The first is an anti-epileptic drug, which is a starting treatment for patients. And some children with Dravet syndrome respond to a combination of epilepsy medicines.”
Another form of treatment is a ketonic diet, a high-fat/low-carbohydrate diet.
“Studies have shown the ketonic diet reduces seizures in patients but, because symptoms vary from patient to patient, it’s hard to know if a treatment will work,” Dr Karda adds.
“Therefore, patients are often started on one drug to see if it works and, if it doesn’t, they move on to another. It’s almost trial and error with drug treatment as it’s difficult to control epilepsy in children. Unfortunately, the strength of the seizures can lead to cognitive impairment.”
Dr Karda’s research
“There’s so many patients affected by Dravet syndrome and epilepsy and it’s about time we start to focus our research and find a cure for this disease.”
When Dr Karda began her research, there weren’t many gene therapy research groups working on pre-clinical research for Dravet syndrome. “But, after some research, I thought this was a good opportunity for us to use current gene therapy technology to try to cure Dravet syndrome,” she says.
Dr Karda and her team are currently working on applying a new gene therapy. “It’s important our research takes place now and not in five, ten, or 20 years’ time, because Dravet syndrome affects so many people. We’re setting the building blocks for research that will take place over the next few years.”
Their aim is to try to cure a strain of Dravet syndrome within a mouse model. “We inject new-born Dravet mice, which exhibit a mutation in the Scn1a gene. This is helping us understand whether the disease is reversible and whether we can treat the disease before the damage has occurred,” she explains.
“Because Dravet syndrome is becoming increasingly common, it requires a great deal of more research. There is a small percentage of children that can die prematurely, and we want to stop that.
“If we found a cure through research, the treatment would overcome cognitive impairment and control the children’s seizures. Hopefully this will also lead us to curing other forms of epilepsy.”
The importance of fundraising
“Many research groups depend on fundraisers to help continue their work – it’s key charities such as Sparks and Dravet Syndrome UK that raise money for research into rare diseases and help researchers find those essential treatments.
“Without Sparks’ supporters raising money, we wouldn’t be able to do this research, which is setting the foundation for the future. We can find a cure for Dravet syndrome using gene therapy and we want to make sure we can find something that works for the patients and give them a brighter future.”
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