Parents help to invent treatment for her daughter’s rare disease

Karen had no background in science or medicine but she was already an entrepreneur before the created Lysogene, a company that uses the biotechnology field specializing in gene therapy to treat rare neurodegenerative diseases.

It all started when her daughter, who was born in 2005, was diagnosed with Sanfilippo Syndrome A, a rare disease. Ornella’s daughter paediatrician noticed the child had some particular features such as wide eyebrows and liver enlargement. After lots of tests, the baby was diagnosed with Sanfilippo Syndrome A.

“We were told our six-month-old child would be mentally impaired, then physically handicapped, then die in her second decade. We went rapidly on the web and looked for information. We downloaded scientific articles related to the disease. Our first surprise was to realize that we were able to understand the contents of scientific publications and navigate into these papers and find the authors. We contacted them and started educating ourselves on the science behind this syndrome and the symptoms”, Karen recalled.

That’s when the parents took action. They hired a neurobiologist specialised in gene therapy, started visiting biotech companies and decided to explore gene therapy. Then came the funding part, which led to the start of Lysogene, in 2009.

The company aims to improve the health of patients who struggle from rare conditions by doing research and clinic development of gene therapy for neurodegenerative disorders. Lysogene develops AAV vectors (Adeno-associated virus) that have demonstrated their effectiveness in safely delivering genetic material to the central nervous system.

And how is Ornella? “She remains a child with Sanfilippo Syndrome A and was only dosed with a treatment at the age of 6, which is pretty advanced in the disease. Since then she’s been much better for the last three years from a behavioural standpoint -- not hyperactive, sleeps well. That’s changed her life and the lives of her family around her. Now I have a smiling kid at home, which is the best outcome I could have dreamed of”, the entrepreneur described.

Adapted from: https://bit.ly/2uu751q

More info: http://www.lysogene.com/
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