A Passion for Saving Lives Through Early Detection and Treatment
One can hear the smile in her voice over the phone as she describes with affection the patients she likes to help most.
“In my mind, I think that in life, you need to have convictions, and if you think you can help in a better way, like children affected with various diseases, well why don’t we try to do that?”
The words ‘cheerful’ and ‘energetic’ are often used to describe Professor Christiane Auray-Blais, Université de Sherbrooke and a researcher at the Centre of Research at the CHUS. But the one word that best describes her is ‘passionate’.
“It’s true. I’m very passionate about what I do. I want to make a positive difference in the lives of others; this is really something that’s very important for me.”
And important, too, to the children with inherited metabolic diseases.
Prof. Auray-Blais oversees a voluntary urine screening program that screens children 21 days after birth for several detectable and treatable diseases including urea cycle disorders and organic acidurias. It’s a unique program in that the compliance rate among parents who collect and submit urine samples has averaged 90% over the years.
Prof. Christiane Auray-Blais (far left) with her
research assistants and graduate students."“It’s very important to detect these diseases in children early so that we can treat them and prevent severe clinical manifestations later in life,” says Prof. Auray-Blais. “If you do prevention, you can save the life of a child, or an adult, but also you can save them and their families a lot of pain and distress.”
“We are now engaged in an evaluative research project for the technological transfer of 45-year-old thin layer chromatography methodology to mass spectrometry for newborn urine screening because, as we know, mass spectrometry is a powerful tool for neonatal screening for hereditary metabolic disorders.”
From the Lab to the Clinic - Translating Biomarker Research
A primary focus of Prof. Auray-Blais’s research is related to a group of conditions known as lysosomal storage diseases. One of these is called Fabry disease which occurs in the general population once in 40,000 individuals. But, because of a founder effect in different regions of the world, Fabry disease may present at a higher incidence (e.g. 1:1,600 in Taipei, Taiwan and as high as 1:5,000 in Nova Scotia, Canada). Genetic mutations that cause Fabry disease interfere with the function of an enzyme which processes biomolecules known as glycosphingolipids. This leads to an accumulation of these substances in the walls of blood vessels and different organs causing among other complications, stroke, cardiac hypertrophy and renal failure.
As if having this disease isn’t difficult enough, some Fabry patients have “cardiac variant mutations” that pre-dispose them to heart disease, so to help them Prof. Auray-Blais’ team took on a research project to see if they could find novel biomarkers indicative of their condition.
In 2012 clinical and research teams at Sherbrooke led by Prof. Auray-Blais succeeded in discovering, identifying and elucidating the structure of several important lipid biomarkers in urine. They then developed, validated and translated into the clinic the first-ever mass spectrometry-based, high-risk screening method for them. Patients having these late-onset cardiac mutations of Fabry disease can now be detected earlier and monitored throughout their lives as the level of some of these biomarkers can inform their physicians about the severity of their disease.
Critical to the overall success of this project was a Waters Synapt high definition mass spectrometer for metabolomic approaches, one of a half dozen liquid chromatography-mass spectrometers in her laboratories.
“The advantages of mass spectrometry are sensitivity, selectivity, small quantity of sample needed, and you can have results quite rapidly,” says Professor Auray-Blais. “So mass spectrometry helps by teaching us more and more about the pathophysiology of a disease, but also about genotype-phenotype correlations by analyzing reliable biomarkers.”
Though her research is oriented towards inborn errors of metabolism and rare lysosomal storage diseases, it has caught the attention of Michael J. Fox Parkinson’s Foundation which funded a research project of hers on Parkinson’s disease in collaboration with a U.S. colleague. Various pharmaceutical companies are also hoping she can help them by analyzing biomarkers in mouse tissues for the development of new treatments for different diseases.
Making Physician and Clinician Outreach a Priority
From her home base in Sherbrooke, Quebec, Prof. Auray-Blais travels internationally to present her research.
Or, the scientists come to her. For the last 16 years, the Université de Sherbrooke and the Centre of Research at the CHUS have hosted a popular bi-annual Symposium on Mass Spectrometry that attracts hundreds of scientists who study mass spectrometric approaches to metabolomics, targeted metabolite profiling, and biomarker research. The knowledge acquired and shared with the scientific and medical communities leads to better healthcare for patients.
“By giving lectures, I want to have people elsewhere in the world know about what we’ve been doing. Sometimes you don’t just go on PubMed and see, there’s this and that. Considering that the disorders that we are working on are pan-ethnic, they’re everywhere in the world, so a lecture gives scientists, physicians, nurses, genetic counsellors appropriate information which might help their patients,” says Prof. Auray-Blais.
Waters Corporation,Sherbrooke University and the Centre of Research at the CHUS – A 15-Year Enduring Partnership
The very first LC - mass spec in her lab was a Waters Quattro Micro mass spectrometer and an Alliance HPLC system. “The engineer came over from England to install the system in January 2005. It was like minus 30 degrees Celsius (-22F) outside, and he had just a little sweater on. We thought he would die, so we said ‘“Oh, come on, you need to buy something warm for our Quebec weather,”’ she says with a laugh.
“Honestly, without the support of Waters throughout the years, we wouldn’t have been able to accomplish what we’ve done over time.”
“It’s been a fantastic partnership from the time we first discussed buying the first system with the head of the Medical Centre at CHUS, Patricia Gauthier, until my last system which arrived last year. I use the word ‘fantastic’ because of the dedication of Waters’ people to patients.”
Patient-Centric to the Core
“My granddaughter Alice is now five years old, and whenever I see children, whenever I go to a store or whatever, and I see little babies, I always think to myself, ‘” Oh, I hope the parents collected a sample of the child’s urine for the screening program,”’ she says. “That’s because, in the end it’s so simple to prevent problems instead of having a child with a metabolic acidosis or hyperammonemia who might die.”
The demands on her time – the travelling, the teaching, mentoring graduate students, the research, the administrative duties – demand that she takes time for herself and her family and alleviates stress. She reads for pleasure and enjoys a good movie. She likes hiking and she’s tried kayaking. She recently took up the drums. But what really gives her enormous joy is her granddaughter Alice who may have inherited the teaching gene from her grand-maman.
“You cannot imagine how much fun we have together,” she laughs. “We play school. She’s the professor, and I’m her assistant, so she’s Madame Alice, and I’m Mademoiselle Christiane.”
