Joe is a lively and joyful teenager from northern England. He loves Italy because it was here that he was cured of a genetic disease called metachromatic leukodystrophy (MLD), the same disease that claimed the life of his little sister, Connie.
Metachromatic Leukodystrophy is one of the worst diagnoses a child can receive. It’s a neurological disease caused by the accumulation of toxic substances, called sulfatides, in the nervous system. Normally, these substances are removed by an enzyme. But, in the case of children born with a defective gene that prevents the production of the necessary cleansing substance, the sulfatides are left free to build up in nerve cells.
The disease first appears with motor regression, and later, cognitive functions also become impaired. The affected progressively lose the ability to walk, then also to talk and communicate. It’s an illness that affects less than one child every fifty-thousand.
Researchers at the San Raffaele Telethon Institute For Gene Therapy, which is specialised in the treatment and research of rare diseases, such as metachromatic leukodystrophy, have developed a therapy, which is capable of correcting the gene defect that causes toxic substances to build up in neurons. Essentially, they reprogram the cells of our organism: a medical frontier, which is custom-made for each individual. This type of treatment is called gene therapy.
In this episode, we follow Joe and his family’s story to explore the frontiers of personalised genetic therapy.
S2 Episode 2 – Genetic Diseases: the Story of Joe, Connie and their Family
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