Imagine the anguish of having your child live with a condition or disease and not being able to relieve their pain.
Imagine the sheer frustration of year in and year out meeting with doctor after doctor, and despite all their efforts, still not being able to identify why your child is not well.
This was the case for a family from Southwestern Ontario, whose youngest son was living with a condition that simply could not be diagnosed for 20 years.
It wasn’t until they were referred to Dr. Robert Hegele that they were able to get answers.
In addition to being an endocrinologist, and lipid specialist, Dr. Hegele is a geneticist, scientist and the Scientific Director of the London Regional Genomics Centre (LRGC) at Robarts Research Institute.
It was at the LRGC that Dr. Hegele was able to identify a variant in the genetic code of the youngest son of the local family. After running tests that looked at his 25,000 genes and those of his siblings, Dr. Hegele could identify a single letter difference in his code. In doing so, he was able to diagnose the young man’s condition, which was so rare that there are only 15 other individuals in the world living with it.
The LRGC was founded in 2000. Today, three staff members, annually, work with approximately 400 scientists from around the world completing thousands of genetic tests and analyses. The team completes experiments, compiles statistics and provides answers to questions posed by scientists. In addition to all the testing, Dr. Hegele estimates that nearly 240 research papers have been written using results from tests completed at the facility.
With the assistance of a new, next-generation sequencing machine, the team at the LRGC can help to identify unique and rare conditions, as well as look at an individual’s DNA and molecules related to DNA, called RNA, to determine why they may have a specific condition such as early heart disease, severe diabetes or elevated cholesterol. And because DNA cuts across all species, the LRGC can assist with research related to insects, plants, marine life and vertebrates.
“A researcher will come to us with their question and we are using modern genomic technology to provide them with the answer,” said Dr. Hegele.
The technology at the LRGC has advanced significantly in the past few decades. Previously, a complete genetic sequence of an individual would have taken years, and likely several million dollars, says Dr. Hegele. Today, however, a student can be assigned the project to review the more than 25,000 genes in a week, and the cost is under $2,000.
While providing answers to complex genetic questions, the LRGC also serves as a constant support for work that Dr. Hegele and others do when working with patients with various medical conditions, including high cholesterol, heart disorders and diabetes.
“I use the Centre to support testing for patients that I see in the lipid clinic,” said Dr. Hegele. “These individuals are living with various inherited cholesterol disorders. At LRGC, we are able to run a panel test of every known gene related to cholesterol disorders. This allows us to determine what is causing the disorder and helps to identify possible treatments.”
Asked to sum up the value and impact of the LRGC, Dr. Hegele says that it is an amazing world-class centre that has helped patients, helped researchers and had a long track record of making a difference; we should be proud of the work that takes place every day at the centre based in Robarts.