As reported in I News; scientists may have found a cure for a devastating and fatal brain disease, and the world of rare brain diseases may never be the same.
The movement disorder, dopamine transport deficiency syndrome or DTDS, is caused by just a single mutation on a gene, but has devastating consequences on young patients; who typically never are able to walk or talk and usually don’t make it past childhood.
Now, children participating in a gene therapy trial may be receiving a cure, reversing the dire future caused by their disease. If successful, scientists believe the technique they’ve unlocked may be the key to curing over 100 rare brain diseases.
Dopamine Transport Deficiency Syndrome
Dopamine transport deficiency syndrome (DTDS) is a rare brain disorder that causes uncontrollable muscle contractions and cramps, impeding movement. Typically beginning in childhood, the disease worsens over time, inhibiting integral parts of life including walking, talking, eating, picking things up, and posture. It can also disrupt sleep and cause the person to have difficulty controlling their facial expression and eyes and causes issues with the digestive system. Most patients do not make it past childhood, often due to issues with breathing or pneumonia.
A Single Gene Fix, An Incredible Change
While gene therapy is a hot topic in the world of rare diseases, this application, a trial at Great Ormond Street Hospital in the UK, will be the first time it will be applied directly to the brains of children in the country.
The therapy works on DTDS because it originates from a single mutation. If this application is successful, the researchers believe it can be adapted to create cures for other brain diseases that have a single mutation to correct.
A pediatric neurologist from the hospital that will be carrying out the trial, professor Manju Kurian, said, there is now hope for children living with this severe, life-limiting brain disorder.
The cure was discovered through a new technique used by scientists to insert functional genes into the brains of mice. The corrected genes are carried into the brain cells through benign viruses, which are then able to take root. This enables patients to regain the abilities impeded by the faulty gene, dramatically turning around their lives. Simon Waddington, a professor of gene therapy at UCL, said that this opens the door to find a standard approach to treat DTDS and other rare diseases.
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While the diseases the scientists want to address are some of the most severe, they also may have the clearest fix. If this gene therapy works, the genetic reversal may stop the devastating consequences, and allow these children to engage with the world with a long life ahead. The founder of the AADC Research Trust, Lisa Flint, said,
“This research sets the scene to help many other children suffering with ‘single gene’ diseases of the brain.”
