Our team is excited to connect - come find us at the European Human Genetics Conference (@eshg.bsky.social). 🇸🇪 Let’s talk science, collaboration, and future ideas! 🧬🤝💡 #ESHG2026

🚨Publication alert!🚨 Check out first author Swethaa’s summary of the article! Link to the article: doi.org/10.1186/s128...

Our findings identify myosin dysfunction as a contributor to X-linked myotubular myopathy (XLMTM) – similarly to what we have seen in nemaline myopathy – and highlight myosin as a potential drug target. @myofinlab.bsky.social research.folkhalsan.fi/annual-repor...

Spring greetings! 🌸 1. Prof. Francesco Saverio Tedesco from UCL and the Francis Crick Institute (London) visited us in April. We had some fruitful discussions about ongoing projects and future collaborations! 🧬💡

🚨Publication alert!🚨 First author Maria Francesca’s summary of the article: "Missense variants in TTN remain one of the greatest challenges in neuromuscular genetics.” (1/5)

A comprehensive framework for the interpretation of TTN missense variants - Genome Medicine

Background Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain archite...

link.springer.com

Today is Rare Disease Day. 🩷💚💙💜 Approximately 5% of the world's population is affected by a rare disease. #RareDiseaseDay is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5) @rarediseaseday.bsky.social

Are you discarding titin missense variants? You have no idea what you're missing! rdcu.be/e5ZXk #titin #musclediseases #rarediseases @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Myofin’s research aims to identify the genetic variants causing neuromuscular disorders, to understand the structure and function of muscle and their alterations in disease, and to evaluate therapeutic interventions.

A rare disease is a medical condition that affects fewer than 1 in 2,000 people and often entails extensive, lifelong consequences.

To mark Rare Disease Day on 28 February we want to highlight the importance of Folkhälsan’s research on rare neuromuscular diseases – both for our researchers and for the people living with a rare neuromuscular condition. @myofinlab.bsky.social

Swethaa from our lab, @myofinlab.bsky.social, presented on the advantages of rRNA-depleted RNA-seq over poly(A)+ selection for muscle and neuromuscular disease research at the #fiRNA #RNASalon meeting. #MuscleResearch #RNAseq #NeuromuscularDisease

Today we participated in the Neuromuscular Club Meeting organised by the Finnish Neurological Society (Suomen Neurologinen Yhdistys). Marco, Ella, Giuliana, Jaakko and Swethaa presented during the day. 🌟 Thank you to the organisers! 💙

“Nothing is more rewarding than seeing new lab members arrive with curiosity and uncertainty, then develop the skills, confidence and independence to lead their own projects”, says @myofinlab.bsky.social Group Leader Marco Savarese in an interview for the Loimu Magazine: www.loimu.fi/verkkolehden...

Helping patients is the ultimate purpose of Marco Savarese’s work

Research group leader Marco Savarese enjoys his work and doesn’t go to sleep unless his inbox is empty. In the future, he hopes to see greater trust in science, a positive attitude toward new discover...

loimu.fi

Very happy news from our lab! 🎉 We are grateful to the University of Helsinki (@helsinki.fi ) for awarding a research-funded doctoral position starting in January 2026. Swethaa has been selected for this position within the Clinical Research Doctoral Program. 👏 (1/3)

🚨Publication alert!🚨 This project was a huge collaborative effort during Fanny’s first year of her PhD, and Jenni’s postdoc in @droch.bsky.social lab at the University of Copenhagen. (1/5)

Closing the year with gratitude and looking ahead to continued scientific progress. Happy Holidays from Myofin! 🌟

🚨Publication alert!🚨 First author Maria Francesca’s summary of the article: ”TTN is a huge and complex gene, and its rare variants are often hard to interpret.” (1/5)

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% …

sciencedirect.com

End of the year celebrations with Myofin and FHRC 💃 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Can we just take a moment to appreciate this beautiful card my students made ❤️ There's images of fluorescent myosin! Wishing "Peaceful, and super-relaxed Christmas. May your ATP-storages be full, and muscle work efficient also next year" 😄💪🔬 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

Another art project at work 💪🔬 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

🚨Publication alert!🚨 First author Milla’s summary of the article: "In this study, we examined two families with dominantly inherited myopathy, presenting as exercise-intolerance, cramps and myalgia in the first family, and progressive muscle weakness in the second family.” (1/4)

Characterization of novel CASQ1 variants in two families with unusual phenotypic features - Journal of Neurology

Background Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or,...

link.springer.com

🚨Publication alert!🚨 First author @jaakkosarparanta.bsky.social ’s summary of the article: (1/5)

C-terminal extension of HSPB6 in a family with myopathy and cataract

Abstract. The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its par

academic.oup.com

Yesterday we hosted Lihastautiliitto and FSHD Finland, two patient advocacy groups in Finland, for a visit in the lab. Kiitos/thank you for coming! 💙 (1/3)

Check out Peter's discussion with Sarah Foye, President and Founder of Team Titin ! 💪 The interview was filmed as part of the 2025 Scientific and Family Conference hosted by Cure CMD, A Foundation Building Strength for Nemaline Myopathy and Team Titin.

Dr. Peter Hackman, PhD Team Titin Interview

YouTube video by Team Titin

youtube.com

🚨Publication alert!🚨 First author Veronica's summary of the article: "This study examined six individuals from five unrelated families who carried truncating variants in exon 363 of the TTN gene, all presenting with recessive titinopathies." (1/4)

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe

In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juv....

onlinelibrary.wiley.com

🚨Publication alert!🚨 First author Johanna's summary of the article: "GNE myopathy is a rare autosomal recessive skeletal muscle disorder. It typically starts in the lower legs, gradually progressing to other muscle groups." (1/2)

Novel missense variants associated with GNE myopathy

Biallelic variants in the GNE gene, which encodes UDP-N-Acetylglucosamine 2-epimerase/N-Acetylmannosamine Kinase, cause an autosomal recessive GNE myopathy (GNEM), characterized by progressive muscle ...

nmd-journal.com

🚨Publication alert!🚨 First author Veronica's summary of the article: "The study focused on finding a robust and reproducible method to differentiate the C2C12 murine myoblast into mature and functional myotubes in a 2D culture system." (1/3)

Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel - Journal of Muscle Research and Cell Motility

Optimizing in vitro differentiation protocols for skeletal muscle cells is essential for producing mature, functional myotubes suitable for disease modeling and therapeutic screening. While C2C12 muri...

link.springer.com

Meet our group members!🧬 ▫️Maria Francesca Di Feo (MD), Clinical Geneticist & Doctoral Researcher Maria Francesca (she/her) graduated in Medicine in 2020 from the University of Modena & Reggio Emilia and completed her specialization in Clinical Genetics at the University of Genova in 2025. (1/7)

Happy Halloween! 🎃👻🔮 The single muscle fibres won the ”Best Group Costume” prize at @folkhalsanresearch.bsky.social 🏆

Check out our recap videos from #EMC2025 and #WMS2025 on our Instagram 📹 : European Muscle Conference (www.instagram.com/reel/DPTJFxc...) World Muscle Society Congress (www.instagram.com/reel/DQOT_LV...)