The Promise of Gene Therapy | Freethink Superhuman

The doctor told us I don’t have very good news for you. Your daughter does have a rare and very severe genetic disorder. You have a child who will be constantly hyperactive and who will not sleep at night. He said there is no treatment for that disease. We said to ourselves: What? This disease has been identified in 1963 and there is nothing for that disease? There must be a problem somewhere. I want to do something for her. That’s my responsibility as a mother. I had to find a cure. My name is Karen Aiach. I live in Paris with my husband, Gad and our two daughters, Ornella and Salomé. Ornella is our first daughter. She was born a little more than 10 years ago. And the doctor told us your child has started accumulating toxic substrates into the brain. I remember that my husband and I looked at each other. We said, well, what will the manifestations of that disease be? The doctor responded she’s going to have strong behavior disorders. Your child will be mentally impaired when she turns 3 or 4 years of age. Your child will start regressing. And then we had the ultimate question: But that doesn’t threaten her life, does it? And he responded your child will not live beyond the age of 12 or 13 years. And there won’t be any treatment for that disease in the next 20 years. And here we were in that office. There was nothing around us anymore. The world broke apart. And we discovered Sanfilippo syndrome. I’m a very curious person in the sense that I’m very interested in what is unknown precisely because it’s unknown. Where there are unknown territories there is new knowledge to collect. We started googling the word Sanfilippo syndrome and learned that this disease was simply linked to a single defective gene. When I realized that, in theory, we could introduce in Ornella’s brain the missing component I was completely overwhelmed by the sentiment that if no one was doing it then I had to do it. So I quit my job and started Lysogene. I was not qualified. And “so what?” I would say. If you’re an expert, you would probably not be as comfortable as I was to address very naive questions, they would say. But actually very true questions. Questions we have to ask. Based on my almost 10 year experience in the business environment I was able to bring something different: The capacity to raise funding and the capacity to put people together around the complex topic of finding a cure for Sanfilippo syndrome. Most importantly we needed a method. We have done a lot of things but we know that what is in front of us is much bigger. Michel is one of the top ranked neurosurgeons in the world and definitely one of the best pediatric neurosurgeons. We already knew that we had to deliver our therapeutic product directly into the brain. And he just said I really think we can do it and we will. I was so relieved. There is several steps. The first one is to prepare the treatment and the second step is to inject the treatment. The preparation of the treatment is to take a virus to modify its genome and to include in its genome the small piece of DNA which will infect the normal cells and lead them to produce the enzyme which is lacking in the disease of Ornella. Whenever you do something different or revolutionary there will be people to criticize the change. The most important driver for this tiny team that then grew up was to think about Ornella. Ornella was our first patient. She received this investigational treatment when she was a little more than six years. She was extremely hyperactive. She was not sleeping at night. Yelling, screaming, touching things. We never had a simple, normal night with my husband. A few days after the surgery, she was still at the hospital and she was like the sleeping beauty. Just looking around her like that. With her bright eyes, as if she was discovering the world around her. And she was very peaceful. That was completely new to us. We don’t know what the future will be. But on an everyday basis, Ornella is peaceful child, a smiling child. The world has changed for me because Ornella is doing better and I’ve done my best as a mother. There is a sentence in France that says that she doesn’t know that is was impossible so she did it. This trial has been the first ever performed in the Sanfilippo syndrome worldwide. Lysogene brought it to human patients in less than five years which is pretty unprecedented. It becomes possible to think about gene therapy as a potential treatment for a number of different diseases. Diseases like Alzheimer’s disease, like Parkinson’s disease. It could be millions of people benefiting from gene therapy. If we reach the market, what’s next?

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