New cost-effective method helps diagnose rare disease

New cost-effective method helps diagnose rare disease


Picture of doctor examining a pregnant person's tummy.

Researchers at Sydney Children’s Hospital, Randwick (SCH) have found a new cost-effective testing method to support family planning for those living with rare genetic disease, Tuberous Sclerosis Complex (TSC).

TSC is an incurable multi-system genetic condition caused by genetic changes found on either the TSC1 or TSC2 genes. The condition causes non-cancerous tumours to grow in parts of the body including vital organs like the brain, heart or lungs. 

Study lead and Clinical Geneticist at SCH, Dr Clara Chung, said the severity of the condition is impossible to predict, which is why testing is... read more.

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