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Oana Caluseriu, by William Au Photography

When two siblings came to the Stollery Children’s Hospital with developmental delays and unusual facial features, doctors suspected a rare genetic disorder called Alazami Syndrome. Standard tests failed to confirm the diagnosis, however, so they turned to the for help.

Part of the Women and Children’s Health Research Institute (, pronounced wih-cree) at the ¶®É«µÛ, the hub brings together experts from different areas of biology and genetics to solve genetic mysteries. The team evaluates the results of sophisticated gene-sequencing tests on patients then does experiments in the lab to verify the findings in the hopes of identifying new genetic disorders, or variants of existing ones.

“It offers an extra layer of possibilities — both for clinicians and researchers — to complete those complex genetic investigations,” says , a clinical geneticist and associate professor in the Department of Medical Genetics. She leads the hub, or TGH, in tandem with , chair of the Department of Pediatrics and fellow WCHRI academic lead.

TGH’s goal is to provide diagnoses to patients and their families, who may have waited decades for answers. Once a discovery is added to the public database on which all medical geneticists rely, it also benefits people worldwide.

A collaborative approach to health

Now in its 20th year, WCHRI has been connecting researchers and clinicians in the Faculty of Medicine & Dentistry with one another and with colleagues in other faculties and institutions, nurturing and extending the impact of research that improves patient care.

A flagship institute of the U of A and its Faculty of Medicine & Dentistry, WCHRI operates as a joint undertaking of the university and Alberta Health Services, with significant philanthropic backing from the Stollery Children’s Hospital Foundation () and Alberta Women’s Health Foundation ().

“Our collaborative model, integrating research with clinical care, is essential for addressing the unique health needs of women and children,” says executive director , a Distinguished University Professor in the Department of Obstetrics & Gynecology. “Our ongoing partnerships and specialized resources mean we can support researchers in making discoveries that directly improve lives.

“This is really important as we know that both women’s and children’s health have been historically underserved, leading to health inequities.”

WCHRI and its 400-plus members focus on research across the entire lifespan of women and children, including the critical perinatal period around birth. This approach — unique in Canada — has helped the U of A become a leader in early and preventative health-care strategies.

“Healthy mothers lead to healthy children, from preconception through pregnancy and the first 1,000 days of life,” says Davidge, whose own research focuses on pregnancy complications and their effects — not just on women, but their children. “This critical window of development can significantly influence long-term health outcomes and the risk of chronic diseases later in life, which impact the population as a whole.”

WCHRI’s close alliance with the U of A and both the Stollery Children’s Hospital and Lois Hole Hospital for Women creates a catalyst for innovation.

“This is what allows us to attract the top talent — scientists, clinicians and trainees — that are needed to continuously drive discovery,” Davidge says.

Talent like medical geneticist and WCHRI member , who ultimately solved the mystery of the siblings, aged 9 and 17. She determined they have Alazami Syndrome from a gene variant not yet recorded in the medical literature. Once her findings were in June, she was finally able to confirm the diagnosis for the family.

Beyond its formal partnerships, WCHRI also works to build relationships that support patient, family and community engagement in research. It helped establish (Sky Children) to improve health outcomes for First Nations children and youth in Maskwacîs, Alta., with research guided by the community and its principles, facilitated by community-based research coordinators and directed by pediatrics professor , a member of Nipisihkopahk (Samson Cree Nation, Treaty 6 Territory) and WCHRI academic lead for Indigenous children’s health research.

From research to real-world results

WCHRI offers comprehensive such as recruiting and screening participants and collecting and analyzing samples. The expertise of its clinical research nurses and coordinators helped the Stollery become one of only two sites in Canada that can conduct Phase 1 pediatric trials, often the first step in testing lifesaving new treatments.

WCHRI is also a leader in health research data management through its national . Every year, it helps researchers collect, organize and analyze data from more than 350 research projects, a crucial step for understanding health trends and developing new treatments.

“WCHRI’s clinical research services and support in navigating the complexities of trials have been invaluable,” says member , a prominent neonatal resuscitation expert and pediatrics professor. “They helped make it possible to translate our lab discoveries into clinical practices that are now saving the lives of newborns.”

Philanthropic support from the SCHF and AWHF has played a key role in expanding the institute’s research capacity. For example, it allows WCHRI to award more than $3.5 million every year in grants, fellowships and studentships, and to backstop trailblazers such as epidemiologist and WCHRI academic lead , who is using artificial intelligence and machine learning to analyze collected data to improve individual care and allow the health-care system to “learn” as it goes. Her research regularly taps into the potent depths of the , which includes data from 500,000 Alberta women who gave birth to 900,000 babies between 2005 and 2023.

AWHF backs four of WCHRI’s endowed , nursing professors Colleen Norris and Dawn Kingston, urogynecologist Jane Schulz and ovarian cancer specialist Cheng-Han Lee, while SCHF sponsors autism expert Lonnie Zwaigenbaum, WCHRI’s associate director and academic lead for children’s health research. A $5-million SCHF donation enabled WCHRI to support seven to work on projects ranging from developing national best practices for healthy school communities to identifying new genes linked to pediatric kidney disease.

SCHF also helps fund the Translational Genomics Hub. In the three years since it launched, it has expanded the repertoire of tests it offers and closely examined genetic data in 24 cases. Several are still in progress, but so far, the team has found three candidate genes which they suspect are related to a particular disease.

The future of precision health

It is estimated that one in 15 children is born with a rare disease, most of which have no or limited treatment options. Many don't survive beyond their first year. Their best hope — and the future of medicine, many believe — is precision health, which takes into account differences in people’s genes, environments and lifestyles and formulates precise treatment and prevention strategies.

The TGH is the first leg of the precision health pipeline WCHRI is building to speed the often agonizing journey of children with rare diseases, taking them from problem identification to diagnosis. At the next stage, customized treatments can be developed in the institute’s stem cell facilities, such as the shared resource lab for human induced pluripotent stem cells, run by WCHRI academic lead , an associate professor in the Department of Medical Genetics. Then the clinical trials pit crews get them to the finish line by supporting studies to confirm potential cures.

This is good news for those still waiting for answers — like the large family with whom Caluseriu has been working to identify a fatal, genetic disorder that has afflicted five generations. After identifying a promising gene, she used an online platform — “kind of a dating app for researchers” — that matched her with colleagues from around the world who have found the same gene in their patients. She swiped right on a research group in Australia and a scientist in Calgary, and a fruitful collaboration ensued.

“It has taken years and a lot of effort, but we are now getting ready to write the manuscript and describe a new genetic disorder,” she says. “It’s a very complex process, but once we convincingly demonstrate our findings, we will be able to work with the family to avoid the devastating outcomes that have ravaged so many lives. And the same will happen for any other family carrying the same faulty gene anywhere in the world who accesses a genetic service.”