Weaver Syndrome is a rare genetic disorder that is distinguished by accelerated growth with rapidly-maturing bones. This extra growth begins before birth and continues throughout childhood.
In 2011, Dr. William Gibson (Diabetes, Nutrition & Metabolism and Genetics & Health) led the team that pinpointed the gene. They did this by identifying several mutations that cause Weaver Syndrome, and their discovery led to a breakthrough in improving care for patients with the syndrome by enabling a definitive DNA-based diagnosis.
The Gibson Lab has leveraged this opportunity to provide biobanking support and diagnostic testing to clinicians across Canada and internationally.
What was the outcome of your discovery of the gene/mutation that causes Weaver Syndrome?
As a result of our discovery of the Weaver Syndrome gene, we can now provide genetic testing to clinicians at BC Children’s Hospital (and elsewhere in Canada) who suspect Weaver Syndrome in their patients. This lets them confirm the diagnosis. This is a fantastic example of research translating into clinical practice.
With my co-discoverer, Dr. Steve Jones, I’ve submitted a patent that is currently being considered for the genetic test. In the meantime, my lab offers genetic testing for free to anyone who has been denied insurance coverage for the test (which is offered by the BC Children’s Hospital lab to Canadians, and by other labs in the United States and Europe to people who live there).
How many children will undergo genetic testing for Weaver Syndrome each year in Canada?
About 15 to 20 in Canada. We’re not sure how many tests for Weaver syndrome are done in other jurisdictions (such as the USA and Europe), because there is no central registry of patients with Weaver syndrome.
How would a registry help?
If we had a registry for families with Weaver syndrome, we could get better answers to important questions like: how big is an individual patient’s risk for cancer? Does the risk for cancer get lower over time, as appears to be the case with some other genetic disorders like Beckwith-Wiedemann syndrome, or does it increase with time, like it does for most genetic cancer syndromes? Only with prospective tracking of cases will we get the best data to help families affected by Weaver syndrome.
What is “CARE4RARE?”
We work with CARE4RARE, which is is a nation-wide consortium that aims to identify genes for pediatric and adult-onset genetic disorders in order to inform treatment and care. Accurate diagnosis through genetic testing helps clinicians to prevent complications, to develop treatments specific to each patient, and to provide better support to patients’ families.
We run a research DNA biobank on site at CFRI, so clinicians who have patients with rare genetic diseases can store and access samples for studies of of rare DNA variants. It’s essentially a research service, and part of CFRI’s infrastructure. It catalyzes genetic research on-site by reducing set-up costs for doctors who don’t have their own “wet-lab” space.
What are the benefits of hosting the biobank at CFRI?
It’s a huge economic benefit to British Columbia. It’s challenging to find research grants to fund rare disease research; by having the biobank here, we are an essential hub for genetic research. We’ve been able to attract international studentships to support Weaver Syndrome research and attract the best and brightest global trainees who bring what they’ve learned elsewhere to enhance our work on site. We’re a terrific site for grad students and post-docs because of resources like our biobank.