Rima Kochman from the Coulon team is one of the doctoral students who stood out with her thesis project. ” Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders” is one of 26 articles published in the last 5 months at CRCM, of which she is the lead author.

Here’s a look back at Rima’s atypical career path, in which she combined her professional and personal projects.

Can you sum up your article in a few words?

“Our article shows for the first time the involvement of the RPA2 subunit of 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 in telomeres, described in yeast in our laboratory, has now been demonstrated in humans.

What is the most striking discovery in the article, and how does it represent a significant advance in the field concerned?

“The identification of a mutation affecting RPA2 in patients with telomeropathy, and the demonstration of its causal involvement, has made it possible to add this gene to the list of genes involved in telomeropathy. This will enable better diagnosis of patients suffering from this disease, and potentially, in the future, improved management of these patients.”

Were any challenges encountered and, if so, how were they overcome?

“The trickiest part was obtaining primary fibroblasts from patients carrying the RPA2 mutation. But we succeeded in constructing lines with the mutation in question thanks to CRISPR-Cas9 technology.”

Which question should be answered next?

“Other mutations in RPA, different from the one characterized in our work, have been identified. Studying their consequences will refine our knowledge of how RPA plays its role in telomeres.”

Do you have an anecdote to share?

“The pleasant surprise was that our paper was accepted without revision.

A little more about you: your background, your studies, what drew you to science?

After graduating from high school, I started studying biology in Lebanon, but we didn’t have the opportunity to really appreciate the experimental side of things. The thesis was my first experience of research work, and it confirmed my desire to continue in the world of research.

You’ve been mom to little Layla for a few months now: what’s your secret to juggling your thesis work and motherhood?

“Making the decision to become a mother isn’t easy when you’re a PhD student, but it’s not impossible. Thanks to good supervision, good progress on the thesis and a supportive family environment, I’ve managed to strike a balance between the thesis and my daughter. Being able to manage both is an achievement for me, because I’m well aware that such a situation is not common, but I’ve always thought it was possible.”

You’ll soon be a doctor of science, and then what?

“I’m defending my thesis on December 11. After that, I’m preparing a funding application to do a post-doc in Gaëlle Legube’s laboratory at the CBI in Toulouse.”