Research Profile - Embracing all the information
Dr. Youssef Idaghdour
A CIHR-funded scientist is analyzing reams of data from more than 20,000 people to find biomarkers for cardiovascular disease.
When it comes to studying the origins of cardiovascular disease, Dr. Youssef Idaghdour is not looking for simple solutions.
A CIHR Banting postdoctoral fellow from Morocco, Dr. Idaghdour and his colleagues in the CARTaGENE project have set themselves up with the monumental task of collecting and storing vast amounts of anonymous genetic, demographic and lifestyle data from a cohort of more than 20,000 randomly selected Quebeckers so that researchers can analyze it to understand why some people develop certain diseases while others do not.
In many ways, it is the extreme opposite of controlled experimentation in which a researcher studies a model organism, usually a mouse, with a specific condition - often a genetic mutation.
At a Glance
Who – Dr. Youssef Idaghdour, Banting postdoctoral fellow at University of Montreal's CHU Sainte-Justine.
Issue – While cardiovascular disease – which includes heart disease and stroke – is the leading cause of death globally, little is known about the genetic sources of its risk factors and how they interact with the environment.
Approach – With access to CARTaGENE's massive biobank and databank, Dr. Idaghdour is using genomic techniques and technologies to identify changes in the transcriptome (the set of all RNA molecules produced in a single cell or a population of cells) to understand the genetic and environmental contributions to susceptibility to cardiovascular disease.
Impact – Identifying genomic and environmental biomarkers for cardiovascular disease will help in the prevention, diagnosis and treatment of the condition.
"That way, if you see an effect, you can tell it's due to the gene," says Dr. Idaghdour, a researcher at University of Montreal's CHU Sainte-Justine. "What we're doing is based on embracing all of the information at the same time and trying to use it all to understand disease better."
"All of the information" includes the CARTaGENE's biobank of DNA, RNA (the molecule involved in the translation of genes into protein products) blood and urine samples, and its databank of environmental, demographic and health data. To protect confidentiality, no names or identifying features are attached to the data.
"The idea of the CARTaGENE project is to capture both types of information, not just genetic information, but to also collect a lot of information about things like lifestyle and nutrition," says Dr. Idaghdour. "My work combines the two [genetics and environmental factors] to study some of the most challenging diseases, such as cardiovascular disease."
From the 20,000-plus participants, Dr. Idaghdour has selected samples of about 800 individuals that show extreme phenotypes (observable characteristics created by the interaction of genes and the environment) for cardiovascular disease.
"We will probably do whole genome sequencing of some of those individuals. But so far we are genotyping [determining the genetic make-up of] 2.5 million DNA positions for each person. And then we will do RNA profiling. The idea is to combine the DNA information from genotyping and the RNA information about gene expression [gene activity], then add all of the lifestyle information and environmental information that we have. At the end of the day, what we want is to find those genes that really can be used as biomarkers for the onset of cardiovascular disease and the ones that are actually causing disease."
Because CARTaGENE, which is headed by Dr. Philip Awadalla of the University of Montreal, is tracking the cohort over a number of years there is also the opportunity to trace disease to its very beginning.
"Imagine we have 100 individuals who were healthy when they were sampled in 2010. If we sample them again in 2015, we can discover things that have changed. Their DNA blueprint will not have changed, but the RNA, the expression of the genes, will have changed. So we might be able to see if there are gene expression signatures that predicted the onset of disease before it started."
The goal, says Dr. Idaghdour, is to learn how cardiovascular disease takes hold and use that information to prevent it from taking hold in other people - and to treat it more effectively when it does.
"People know that by changing their lifestyle they can change the probability of them getting sick. But that doesn't take predisposition, which is purely genetic, into account. Some people are predisposed to getting sick. If someone knows they are predisposed - and that can be obtained through genetic information - then they can do something about it before it happens."
"Disease is a product of genes and their environment. My focus is to find ways to integrate genetic and environmental information, the interaction between the two, to study disease."
- Dr. Youssef Idaghdour, CHU Sainte-Justine