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Nov 20

Tuberous Sclerosis Association Visit – 14th November 2019

  • 20th November 2019
  • CEO's Blog

Louise Fish, CEO Tuberous Sclerosis Association receives a cheque from Paul Jackson

Visit to the Tuberous Sclerosis Association

I visited the Tuberous Sclerosis Association in London on 14th November 2019, to present a cheque for £10,000 towards phase 2 of a research project into early development in Tuberous Sclerosis.

Aims of the Tuberous Sclerosis Association

Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes tumours to grow in all parts of the body. The side-effects of the condition can be very extreme, for instance the tumours that grow on the brain can cause epilepsy in children. TSC can also result in the death of the individual. Though the disease is relatively rare, it is more common than cystic fibrosis.The aim of the Tuberous Sclerosis Association is to support individuals affected by the condition, together with their families or carers. It also encourages and supports research into the causes and management of TSC and provides education and information.

Project in partnership with King’s College London

The CEO, Louise Fish (pictured above) explained that the current priority in TSC research is young children and finding ways to prevent or manage seizures. The disease is hugely debilitating for patients (learning difficulties, autism and seizures) and it is unknown how this disease develops in very young children.The grant of £10,000 will help towards funding further research in a project, TSA is currently running in partnership with King’s College London.The goal of the project is to gain knowledge of the disease to improve the healthcare of young children with TSC, with the long-term intention to improve their quality of life. This is being done by looking into how the disease affects babies. This area of work is a huge priority.

How the research is being carried out

It is excellent that much of the research is done in the comfort of the family home using “eye gaze technology”, as this will be less disruptive to the baby and family. In addition, King’s College London is a pioneer in TSC healthcare. I liked the fact that the project will use non-invasive monitoring of babies to understand better this complex disease. This project also works closely with families during a time of vulnerability, when their babies need constant surveillance.

To find out more about TSC and the Tuberous Sclerosis Association, please visit their website:https://tuberous-sclerosis.org/

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