Rima Kochman from the Coulon team is one of the PhD students who stood out with her thesis project. “Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders” is one of the 26 articles published at the CRCM in the past five months, with her as the lead author.
A look back at an unconventional journey where Rima balanced her professional and personal projects.
Can you summarize your article in a few words?
“Our article is the first to show the involvement of the RPA2 subunit of the replication protein A (RPA) in certain ‘telomeropathies,’ diseases characterized by early signs of aging and abnormally shortened telomeres. RPA is involved in DNA replication, repair, and recombination. Its role at telomeres, described in yeast in our lab, is now demonstrated in humans.”
What is the most striking discovery of the article, and how does it represent a significant advance in the field?
“The identification of a mutation affecting RPA2 in patients with telomeropathy and demonstrating its causal involvement allowed us to add this gene to the list of those implicated in telomeropathies. This could lead to better diagnosis for patients with this disease and, potentially, improved care in the future.”
Were any challenges encountered, and if so, how were they overcome?
“The most challenging part was obtaining primary fibroblasts from patients carrying the RPA2 mutation. However, we managed to create cell lines with the mutation using CRISPR-Cas9 technology.”
What question should be addressed next?
“Other mutations in RPA, different from the one characterized in our work, have been identified. Studying their effects will further refine our understanding of how RPA functions at telomeres.”
Do you have any anecdotes to share?
“The pleasant surprise was that our paper was accepted without any revisions.”
A little more about yourself: your background, your studies, and what drew you to science?
“After finishing high school, I began studying biology in Lebanon, but we didn’t have the opportunity to fully appreciate the experimental side. My thesis was my first experience with research, and it solidified my desire to continue in the scientific field.”
You are a mother to little Layla, just a few months old: what’s your secret to balancing your thesis work and motherhood?
“Deciding to become a mother while working on a PhD is not easy, but it’s not impossible. Thanks to good supervision, significant progress in my thesis work, and a supportive family environment, I managed to find a balance between my thesis and my daughter. Being able to handle both is an achievement for me because I’m aware that such situations are not common, but I’ve always believed it was possible.”
You’re about to earn your doctorate in science—what’s next?
“I’ll defend my thesis on December 11. After that, I’m preparing a funding application to pursue a postdoc in Gaëlle Legube’s lab at the CBI in Toulouse.”