Marwa Mahdouani / Pilar Gil. CNIO
She is completing a six-month postdoctoral fellowship at the CNIO's Familial Cancer Unit
She will conduct gene-editing experiments and other functional studies “that are difficult to perform in Tunisia due to infrastructure and budget constraints,” she says
Her interest in hereditary colorectal cancer stems from some cases in her family
As a child, Marwa Mahdouani (Kairouan, Tunisia, 1995) wanted to be a surgeon. Instead she ended up in a laboratory, doing a PhD on hereditary colorectal cancer, “because there were some cases of this disease (and also diabetes) in my family, and I wanted to know more about hereditary diseases,” she explains at the Familial Cancer Unit at the Spanish National Cancer Research Centre (CNIO), led by María Currás.
This is the destination she chose for the six-month Science by Women program, run by the Women for Africa Foundation, which aims to promote research by African women scientists in biomedicine, food security, climate change, and other key areas for major global challenges.
The project for her stay complements her postdoctoral work at Farhat Hached University Hospital (Sousse, Tunisia), where Dr. Mahdouani is searching for new variants in genes involved in hereditary syndromes prediposing to colorectal cancer. They are so-called variants of unknown significance (VUS), as their influence on a desease is still to be determined.
Useful for prevention and early detection
Knowing that a variant can predispose someone to cancer is essential, because “this has direct implications for the patient and their family”, says Currás. And Mahdouani ellaborates: “it allows prevention protocols to be applied to carriers, monitoring them for early detection –should the disease appear–, and also providing genetic counseling so that their relatives can be tested to see if they have inherited that variant,”.
To find out whether a particular variant of unkonwn significance can cause cancer, functional studies must be conducted. These studies involve experiments using gene-editing techniques, combined with assessing the expression and functionality of the protein, bioinformatic tools and specific classification criteria. “In Tunisia, it is very difficult to perform these studies because we lack the technological infrastructure, and funding is often very limited,” says Mahdouani. “That is why we usually seek opportunities abroad.” She has previously stayed in Germany, Turkey, and Barcelona.
At the CNIO, she is working to classify variants of unkonwn significance found in patients’ DNA analyzed at this center. She notes that she is learning about Next Generation Sequencing data analysis and specific classification criteria thanks to María Currás, who says that Mahdouani “has adapted well to the unit. However, longer stays would be necessary for this kind of experiments”.
Mahdouani adds that she is “expanding my knowledge of the CRISPR-Cas9 gene-editing technique, also in collaboration with the Molecular Cytogenetics Unit, led by Sandra Rodríguez”.
Learning for teaching
In October, the researcher will return to Tunisia.” In her circle, her twin sister studied the same degree as her, another of her sisters is a mathematician, and many of her friends are also scientists.
Her long-term goal is to become a university professor in her country, because “I love passing on the knowledge I have acquired to others. In the presentations and short talks I have given in several countries, I have experienced how happy I feel when I help others understand new things.”
But to do so, she believes she will need to publish several articles as first author, “probably abroad, where it is easier to publish,” she says. “And, if possible, in Spain.”
About the Spanish National Cancer Research Centre (CNIO)
The Spanish National Cancer Research Centre (CNIO) is a public research centre under the Ministry of Science, Innovation and Universities. It is the largest cancer research centre in Spain and one of the most important in Europe. It is made up of half a thousand scientists, plus support staff, who work to improve the prevention, diagnosis and treatment of cancer.