Community Research and Development Information Service - CORDIS

Tuberous sclerosis gets possible genetic screening

The difficulty with tuberous sclerosis is that whilst it may affect some individuals severely, causing autism, mental retardation, developmental delays and seizures, in many, the condition is so mild it goes all but unnoticed and undiagnosed, allowing people to lead normal, challenging lives. It is therefore, difficult to identify the genetic sequencing of this condition. A new technology developed may provide a genetic screening test that will assist in the identification of this disorder.
Tuberous sclerosis gets possible genetic screening
Tuberous sclerosis is known to affect two chromosome areas. Chromosome 9 is affected by TSC1 (Tuberous Sclerosis Complex) and TSC2 is located around chromosome 16. Both chromosomes are thought to play a role in tumour suppression but TSC may affect them either because of genetic inheritance or through random genetic mutations. Identifying persons suffering from TSC therefore remains difficult because symptoms may vary considerably. Tuberous sclerosis may cause autism, seizures, lesions in the skin and the central nervous system, tumours of the brain, kidneys and even the eyes as well as other organs. It is because TSC affects the tumour suppressive chromosomes of the body, that it can have such a wide scope of afflictions.

Currently, in order to identify TSC, patients are required to undergo numerous tests including an MRI or CT brain scan, renal ultrasound, echocardiograms and a dermal testing known as Wood's Lamp evaluation. Until recently, there was no genetic testing available.

The technology has now been successfully developed as a means to identify the sequencing of the genes which could very well be used to develop a genetic screening test. For an ailment that affects approximately 1,000 000 (diagnosed) people worldwide, and for which there is no cure, this medical advancement introduces good news not only because it will advance science's understanding of this common suffering, but also because in doing so they may come across effective treatment measures.
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