A new study from the Moffat Lab reveals a promising precision target for Barth syndrome, a life-threatening genetic condition with no current cure.
By
MoGen News
Precision Genetic Target Offers Hope for Barth Syndrome
In a new Nature study, researchers in the Moffat Lab in the Department of Molecular Genetics have identified ABHD18 as a promising therapeutic target for Barth syndrome, a rare and often fatal mitochondrial disorder.
The discovery reveals that blocking ABHD18 can restore mitochondrial function and enhance heart health in preclinical models, providing a potential precision treatment pathway.
“ABHD18 gives us a direct path to correcting the underlying problem of this rare condition and can provide real hope for patients and families,” said Dr. Jason Moffat, who is also a senior scientist at SickKids and study lead.
