Father creates treatment for his son’s rare disease

The treatment revolves around precision medicine, treatment simulations and drug repurposing.

Matthew’s son, Bertrand, was born in 2007 and was the first person diagnosed with NGLY1 deficiency. This condition causes chronic seizures, liver problems, and developmental delays. Bertrand had inherited two mutations of the NGLY1 gene, which plays a key role in recycling cellular waste. That meant the child’s cells were choking on their own trash. In addition, when Bertrand cried, his eyes stayed dry. It took four years to get a diagnosis.

At the time, there was no one to turn to because this condition was so rare that no one was working on it - no research, no experts, no clinical trials.

Eventually, the scientist was able to get to more people with this mutation after he created a blog and writing a viral post about this topic. In 2012, he wrote a post called “Hunting Down My Son’s Killer”, and the exposure helped him to build a community of people dealing with this condition, researchers and other volunteers.

Matthew turned to precision medicine - using genetics and medical history to develop personalised treatments for individual patients. He uses computers to simulate hundreds of thousands of compounds that could help to find potential treatments. From those candidates, he found potential drugs that were already FDA approved for other uses.

“You could say I started focusing on precision medicine the moment he was born and we realized something wasn’t right. I couldn’t help but want to figure it out. When it’s your kid and you know there’s nobody else in the world who can do anything for him, you just start doing it yourself. With precision medicine, we want to treat diseases at the root cause by focusing on individual genes driving the disease. When we design a therapy for you, we hit the genes that are driving your disease, and that can be totally different from patient to patient with the same disease”, the expert explained.

It took the father six years to get multiple treatments for a disease that was simply unknown.

Bertrand stopped having seizures. Matthew’s goal now is to make precision medicine a tool for patients of all diseases, rare or common.

Adapted from: https://bit.ly/2txPbtu
https://nyti.ms/2Nu5CDp
https://bit.ly/2mFnHzh

More info: http://matt.might.net/

https://www.youtube.com/watch?v=d5DJOhGbfJI