Scientists ‘finally in the driver’s seat’ in race to find cure for daughter’s rare disease TUBB4a leukodystrophy | Science and technology news

A scientist in a race against time to find a cure for her daughter’s rare and deadly disease has said they are “finally in the driver’s seat”.

dr Michelle Teng is trying to develop the world’s first treatment for TUBB4a leukodystrophy before it’s too late for her 12-year-old daughter Sofia.

The life-threatening genetic condition affects the central nervous system and can lead to difficulties in walking, speaking and even swallowing. Most young patients die before reaching adulthood.

Sofia started showing symptoms as a toddler and was finally diagnosed with the disease at the age of four.

“When we googled the disease, it was a horrifying experience,” Michelle recalls.

“If you read the worst-case scenarios, the children will die within 12 months.

“In the [Sofia’s] This is a slow, neurodegenerative disease. Obviously I didn’t know that, and I had no idea how long she would live.

“The doctors have told us there is nothing they can do and I think that’s probably the most devastating news for any parent.”

“It’s a ticking time bomb”

But the diagnosis spurred Dr. Teng to action. First, she raised money for research because at that point, in 2014, the disease had only just been defined.

But as Sophia’s condition began to deteriorate, to the point where she is now unable to walk or speak, Michelle realized she had to do more.

“Anyone who has lived with a loved one with Parkinson’s, Alzheimer’s or other degenerative diseases will see that this is a ticking time bomb,” she said.

“It’s a steady decline, and over the years you see the people you love lose the ability to do certain things.

“We raised about £200,000 in a short space of time which was extremely encouraging but to really find a treatment and get that treatment to the clinic it’s going to take £5million to 10million and I realized that’s not going to go around cut the mustard.”

“You have to be an optimist”

Therefore founded Dr. Teng in April 2021 SynaptixBio, an Oxford-based biotech company with the sole aim of finding a treatment for TUBB4a.

The company recently signed a global license agreement with the Children’s Hospital of Philadelphia – the world’s leading TUBB4a leukodystrophy center – in the United States to accelerate the research process.

It aims to start clinical trials for a treatment in 2024.

dr Teng said, “I feel like because we started this company, we’re finally in the driver’s seat when it comes to finding a treatment for [Sofia]within the deadlines that we believe will be on time for you.

“And if you work in biotechnology, you have to be an optimist.”

“A Game Changer”

Research suggests that 1,650 babies are born with TUBB4a each year worldwide. In the UK it is believed to affect between 60 and 90 newborns.

However, scientists fear the number of cases could be even higher because many patients are misdiagnosed with other conditions, such as cerebral palsy.

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A varied combination of symptoms makes them incredibly difficult to spot. The only way to confirm the disease is through genome sequencing and an MRI scan.

dr SynaptixBio CEO and co-founder Dan Williams called the treatment the company is developing a potential “game-changer.”

“One of the scariest things is that a lot of these kids don’t really make it to late teens,” he said.

“Hopefully, by halting the progression of this disease, it could provide them with a better quality of life as well as prolong their lives.”