New disease discovered by researchers at BC Children's Hospital

Researchers in B.C.'s Lower Mainland have discovered a new disease that affects brain development in children – a finding that promises to solve a medical mystery affecting families around the world.

The rare disease, dubbed gain-of-function MARK4, was discovered through the Precision Health Initiative at BC Children's Hospital, which has been working to identify the types of illnesses specialists are currently unable to diagnose.

Gain-of-function MARK4 is linked to "developmental delay, intellectual disability, behavioral abnormalities, and dysmorphic features," according to the researchers' findings, which were published last month in the journal Human Genetics and Genomic Advances.

"This new addition to the list of existing human diseases means that fewer families will spend years searching for answers for their child," said Dr. Stuart Turvey, lead of the Precision Health Initiative, in a statement.

"From here on out, children who are identified with similar changes in MARK4 will get a diagnosis. It also allows further research of this condition to create better futures for kids."

Genetic testing helped confirm the disease in two teenage brothers, who each have neurodevelopmental disorders.

According to BC Children's Hospital, one in every 25 children born across the province is affected by a rare disease, and approximately half of them can't currently be diagnosed.

Turvey said the goal of the Precision Health Initiative is to solve another 25 per cent, "pushing the diagnostic rate from 50 per cent to 75 per cent, and giving a renewed sense of hope to families."

BC Children's Hospital said much of the team's work was made possible thanks to fundraising from Mining for Miracles, a fundraising campaign from the province's mining industry that has raised more than $40 million since its inception in 1988.