Clinical fellowship offers opportunity to diagnose previously undiagnosable diseases through genetic ‘detective’ work

For medical geneticist Dr. Xiao-Ru Yang, BSc ’13, MD’16, few things are more rewarding than helping a patient understand what caused their mysterious, unexplained illness — answers those patients often seek for many years.

Thanks to a new University of Calgary fellowship generously supported by Alberta’s only neurogeneticist, Dr. Oksana Suchowersky, MD ’78, and her partner, the board chair of the Alberta Cancer Foundation, Dr. Chris Eagle, BSc ’73, MD ’77, Yang is poised to help sleuth out new diseases and improve health while adding Canadian capacity in the rapidly advancing field of neurogenetics.

“There are so many ‘diagnostic odyssey’ families, who get tests and investigations done for many years, but still have no diagnosis. To be able to tell these families, ‘I think we actually have the answer now’ and see their reaction, is really incredible,” she says.

Every case is different. It's really like solving a puzzle and you're motivated to continue to work and study these things until you do.

Yang is the first recipient of Canada’s first clinical fellowship in neurogenetics and medical genetics, the 12-month Dr. Oksana Suchowersky and Dr. Chris Eagle Clinical Fellowships, offered alternating years at UCalgary and the University of Alberta.

The fellowship provides up to $100,000 to support training for exceptional clinical fellows who have completed residency in neurology or medical genetics. It allows trainees to conduct clinical or translational research or advanced subspecialty training in the area of neurogenetics (the study of the role of genetics in the development and function of the nervous system) or genetics (the diagnosis and management of genetic disorders).

“Over the past number of years, genetics has mushroomed — it’s becoming an important point in how we diagnose and even treat patients. We're starting to use gene therapy in a lot of different specialties,” says Suchowersky.

“And yet in medical school, students receive only about seven hours of general training in genetics, and funding for clinical fellowships is very limited. That started the discussions between Chris and myself about the importance in developing expertise in genetics.”

The donors have worn many hats in Alberta’s health care and education communities. Suchowersky is an adjunct professor and former department head of medical genetics at UCalgary. She is a professor in the departments of Medicine (Neurology), Medical Genetics and Paediatrics at the University of Alberta and director of the Neurogenetics and Huntington disease program.

Eagle is a past president and CEO of Alberta Health Services and past CEO of Calgary Health Trust. He is also a professor emeritus, former department head of anesthesiology and assistant dean of medical education at UCalgary’s Cumming School of Medicine (CSM). He says:

We've watched generations of talented young physicians leave Alberta to get training elsewhere — sometimes they return, sometimes they don't. This fellowship is an opportunity to keep or bring people here. It’s also about making the care that’s given in Alberta the best in the world.  

Harnessing rapid advances in genomics

Yang started her training this summer under the supervision of Dr. Francois Bernier, MD, Dr. Billie Au, MD, PhD and Dr. Mike Innes, MD, at the Alberta Children’s Hospital (ACH) — all international leaders in their field. She’ll learn how to analyze genomic data and how to ultimately apply emerging genetic sequencing technologies in the clinic.

“The funding of this fellowship is transformational, supporting advanced training of the some of the best physicians in one of most rapidly advancing fields of medicine. Canada desperately needs academic and physician leaders to maximize the impact of genomic medicine and neurogenetics and UCalgary have consistently been at the forefront of these fields,” says Bernier, professor and head of Medical Genetics.

“Dr. Yang will be among the new generation of leaders in genomics thanks to this fellowship.”

Rapid advances in genomics — the study of genes and their functions — are allowing researchers and physicians to customize health care and treat individuals according to their genetic makeup. This precision medicine approach is giving physicians more tools to understand what their patients need and to provide highly personalized, precise care.

There are more than 4,800 known, rare syndromes, affecting between one and two million Canadians. More accessible gene sequencing has allowed UCalgary geneticists to diagnose many previously undiagnosed, complex chronic diseases, which has a positive impact on families as well as the health-care system.

The cost to sequence the full genome in one single person used to be $100 million, but now costs about $1,000.

Yang moved from Halifax to Calgary with her family as a teenager and completed her five-year residency in medical genetics at the CSM earlier this year. During the COVID-19 pandemic, she became a mom to a now two-year-old boy. She previously had the opportunity to spend time during her residency in clinic with Suchowersky, who teaches at both UCalgary and UAlberta, and Yang looks forward to learning from the neurogeneticist again as part of the fellowship.

"I'm so grateful for this investment that Dr. Suchowersky and Dr. Eagle are making into training the next generation of physicians in the fields of genetics and neurology. I get to train with some really fantastic physicians and scientists and it wouldn't happen without their generosity,” Yang says.

“I hope through the course of my career that I can pay it forward by furthering the education of other trainees, like they're doing for me right now.”