Cornelius F. Boerkoel

PhD, MD

Investigator, BC Children's Hospital

Our research focuses on three inherited human diseases:

1. Schimke immuno-osseous dysplasia

2. Spinocerebellar ataxia with neuropathy type 1

3. A disorder of sterol metabolism regulating behavior and neural development

We have identified the genetic causes of these diseases. Schimke immuno-osseous dysplasia is caused by a defect of organizing DNA within the nucleus. Spinocerebellar ataxia with neuropathy type 1 is caused by a defect in the ability to repair damaged DNA. The disorder of sterol metabolism, which is X-linked, causes brain neuron migration defects and intellectual disability in males but only aggressive behaviour in females.

To understand how these genetic defects cause disease, we are using multiple approaches including biochemistry, cell biology, fruit fly genetics and mouse genetics. Because these disorders cause alterations observed in other human diseases, we are also developing them as models for dissecting the pathophysiology of those diseases.