BC Children’s Hospital Foundation and BC Children’s Research Institute have announced that with funding support from Mining for Miracles — the B.C. mining industry’s long-standing fundraising campaign for BC Children’s Hospital Foundation — a new disease has been discovered through its Precision Health Initiative: gain-of-function MARK4.
Since its inception in 2023, Precision Health Initiative has harnessed state-of-the-art medical research technologies to provide answers for families of children with rare undiagnosed diseases.
“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 and Canada Research Chair in Pediatric Precision Health, on Wednesday. “This finding has the power to help families on a global scale because 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.”
Through standard genetic testing, it was discovered that two siblings both had a change in the MARK4 gene, but many details were still unknown as no neurodevelopmental disorders were associated with a change in MARK4 at that time. Enrollment in the Precision Health Initiative at BC Children’s Hospital Research Institute brought this family long-awaited answers. “Using hyper-personalized testing, we were able to provide the family with a diagnosis: gain-of-function MARK4, ending their diagnostic journey—and resulting in a novel medical discovery that will help others,” said Turvey.
One in 25 children born in British Columbia are affected by a rare disease, and these patients are very likely to be hospitalized, occupying one in every three hospital beds at BC Children’s Hospital. Roughly half of these children do not receive a diagnosis, despite the families seeing specialists and enduring endless tests.
“Through the Precision Health Initiative, we believe we can solve up to 25 per cent more of these mystery cases, pushing the diagnostic rate from 50 per cent to 75 per cent, and giving a renewed sense of hope to families benefiting from this program,” said Turvey.
Since April 2023, over 23 families have been enrolled in the Precision Health Initiative, and more answers are being provided to clinicians to share with patients and their families. “Rebecca is another example of a child we’ve been able to find answers for,” said Dr. Turvey. “She is a bubbly, energetic girl who had an undiagnosed disease for years. She had a cleft palate, extremely low red blood cell counts, hearing impairment, constant fatigue, and spent a lot of time at BC Children’s. Through advanced genomic sequencing, we discovered she had a previously undiscovered genetic variant that was responsible for all her symptoms. The diagnosis our team provided enabled Rebecca’s medical team to refine their care, but equally as important, she and her family now have hope.”
Mining for Miracles is in year two of fundraising for the Precision Health Initiative. In 2023, the campaign raised more than $2.1 million and aims to reach the fundraising goal of $3.58 million by the end of this year’s campaign. Since 1988, Mining for Miracles has raised over $40 million to improve health care for kids throughout British Columbia. One hundred per cent of the proceeds raised goes to BC Children’s Hospital Foundation.
“When we have the right technology, and the generous support from fundraising campaigns like Mining for Miracles, significant advances in medicine can happen,” said Malcolm Berry, President and CEO of BC Children’s Hospital Foundation. “This discovery was driven by the incredible team at BC Children’s Hospital and BC Children’s Hospital Research Institute – where outstanding clinical care and world-class research occurs. The Precision Health Initiative is not only changing the lives of families facing an undiagnosed disease, it is also solidifying BC Children’s Hospital as an international leader in precision health care.”
Some of the programs supported by Mining for Miracles that have advanced the care of seriously ill children across the province and the Yukon include the BC Children’s Hospital BioBank, the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) clinic, the Transplantation and Cellular Therapy (TRACE) program, Gut4Health and the Cellular and Regenerative Medicine Centre (CRMC). The Precision Health Initiative builds on these programs to accelerate, simplify and unify the delivery of precision health research at BC Children’s Hospital.
