"Overall, the findings broaden the known clinical and genetic landscape of titinopathies, highlighting the disease relevance of exon 363." (4/4)

"A frameshift deletion (c.107430delA) found in a Belgian family – combined with a second truncating variant in exon 208 – led to a more severe, congenital presentation." (3/4)

"A common variant (c.107578C>T) was detected in four patients of Eastern European origin, showing a juvenile/young-adult onset distal myopathy marked by progressive weakness in the lower limbs." (2/4)

"We present a cohort of GNE myopathy patients with clinical features consistent with previous reports.More than 20 different GNE variants were present in the cohort, including 5 novel, previously unreported variants. Our study expands the mutational spectrum of GNE myopathy." (2/2)

"Daily media change was needed to support robust differentiation.

Overall, the study provides an affordable and reproducible protocol that supports advanced C2C12 differentiation suitable for disease modelling and translational applications." (3/3)

"We cultured C2C12 cells on ultra-compliant gelatin hydrogels, and we tested several conditions (medium, supplements, stimulation). Differentiation medium supported robust myotube formation, and the addition of insulin and pyruvate enhanced myotube maturation." (2/3)

Something you can’t live without
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“Coffee, art, and a good hike in the wild to disconnect from the world.” (7/7)

What has been a big source of inspiration for you?
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“Patients, their families, and advocacy groups – seeing how powerful it is when everyone works toward the same goal. Also, my mentors and all the people who have dedicated their professional careers to research and patient care.” (6/7)

”For the next four years, I’ll help shape the ESHG Annual Meeting – defining topics, selecting speakers and abstracts, etc – while representing young geneticists and contributing my expertise on muscle genetics.” (5/7)

▫️Get to know Maria Francesca! 👋

Tell us about your involvement in the European Society of Human Genetics ( @eshg.bsky.social )
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“In May 2025, I was elected member of the ESHG-Young Committee and recently invited to join the ESHG Scientific Programme Committee (SPC). (4/7)

She is currently a PhD student in Clinical Research (University of Helsinki) and Pediatric Sciences (University of Genova). Her research focuses on titinopathies and, more broadly, on unsolved myopathy cases, novel gene discovery, and genotype–phenotype correlations. (3/7)

In 2022, she spent six months at Folkhälsan as a visiting student, working with Dr. Savarese's and Prof. Udd’s teams – an experience that inspired her to pursue a joint PhD between Helsinki and Genova. (2/7)

… whereas Tibial Muscular Dystrophy shows a more localized pattern (notably tibialis anterior and extensor digitorum longus), helping distinguish them radiologically.” (2/2)