iiinova — where your digital self keeps evolving

Myofin Research Group @myofinlab.bsky.social · 29/09/2026

Our team is excited to connect – come find us at the @worldmusclesociety.org congress. 🇯🇵 Let’s talk science, collaboration, and future ideas! 🧬🤝💡 #WMS2026

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Myofin Research Group @myofinlab.bsky.social · 24/09/2026

By improving our understanding of dentofacial features in neuromuscular diseases, this research may contribute to better diagnostic practices and more targeted patient care. 💙💪 (5/5)

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Myofin Research Group @myofinlab.bsky.social · 24/09/2026

The study is carried out at the Department of Oral and Maxillofacial Diseases, University of Helsinki ( @helsinki.fi ) by Maria Terzidou DDS, MSc (Orthod), Specialist in Orthodontics, under the supervision of Adjunct Professor Heidi Arponen and Professor David Rice. (4/5)

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Myofin Research Group @myofinlab.bsky.social · 24/09/2026

Our senior researcher Vilma-Lotta Lehtokari is pleased to collaborate on the important research project entitled "Dentofacial features and functions in patients with neuromuscular diseases". (3/5)

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Myofin Research Group @myofinlab.bsky.social · 24/09/2026

Despite their significant impact on everyday life, these symptoms have received relatively little research attention to date. (2/5)

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Myofin Research Group @myofinlab.bsky.social · 24/09/2026

In many neuromuscular disorders, weakness of the facial and pharyngeal muscles is present, which impairs facial expression, lip function, tongue function, and jaw movements. As a result, chewing, swallowing and speech are often affected. (1/5)

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Marco Savarese @marsavarese.bsky.social · 19/08/2026

Back from summer break with good news! ☀️🧬 Our study on PIEZO2-related disorders, led by Giuliana Capece, is now published in Brain! Proud of this collaborative work. 🎉 @myofinlab.bsky.social @folkhalsanresearch.bsky.social academic.oup.com/brain/articl...

academic.oup.com

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

Capece et al. provide a systematic clinical characterization of one of the largest cohorts of individuals with PIEZO2-related disorders. Their findings dis

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Myofin Research Group @myofinlab.bsky.social · 13/06/2026

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

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Myofin Research Group @myofinlab.bsky.social · 12/06/2026

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

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Folkhälsan Research Center @folkhalsanresearch.bsky.social · 20/05/2026

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...

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Myofin Research Group @myofinlab.bsky.social · 09/05/2026

3. The birdwatching trip was organised for the second year in a row! It was windy and a bit cold but we identified about 30 different birds on the trip.🦅🦆🦢

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Myofin Research Group @myofinlab.bsky.social · 09/05/2026

2. Marco, Jenni, Vilma, Giuliana, Manu and Fanny attended Lihastautipäivät organised by Lihastautiliitto (The Finnish Neuromuscular Disorders Association) whose main goal is to support affected individuals in Finland. It was nice to see some familiar faces from the visit we organised in December!💙

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Myofin Research Group @myofinlab.bsky.social · 09/05/2026

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! 🧬💡

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Myofin Research Group @myofinlab.bsky.social · 05/03/2026

”By integrating clinical, computational, and experimental evidence, we propose a practical framework to improve TTN missense interpretation and support diagnoses." (5/5)

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Myofin Research Group @myofinlab.bsky.social · 05/03/2026

”Functional assays revealed that proline substitutions within Ig domain β-sheets impair protein folding, leading to aggregation and proteostasis disruption.” (4/5)

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Myofin Research Group @myofinlab.bsky.social · 05/03/2026

”Using allele frequency thresholds, exon usage data, segregation data and AlphaMissense, in line with ClinGen recommendations, we refined variant prioritization.” (3/5)

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Myofin Research Group @myofinlab.bsky.social · 05/03/2026

”In this international study, we focused on unsolved myopathy cases carrying a rare missense variant in trans with a truncating TTN variant. Across 30 patients, we observed a wide clinical spectrum from congenital to adult-onset disease.” (2/5)

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Myofin Research Group @myofinlab.bsky.social · 28/02/2026

We see Rare Disease Day as an opportunity to show our support, but it is the research we do on rare muscle diseases that we hope will make a difference for these patients. For us, Rare Disease Day is every day! 💙 (5/5)

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Myofin Research Group @myofinlab.bsky.social · 28/02/2026

One of our main goals is to identify the genetic variants and possible pathogenetic mechanisms of the muscle disease to enable proper diagnosis and the development of eventual therapies. (4/5)

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Myofin Research Group @myofinlab.bsky.social · 28/02/2026

Receiving a diagnosis allows for a more accurate prognosis and choice of treatment, alleviating the psychological burden of the patients and their families. (3/5)

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Myofin Research Group @myofinlab.bsky.social · 28/02/2026

A delay in diagnosis is common for people with a rare disease. Of the patients with neuromuscular disorders, 40–60% remain without a genetic diagnosis. (2/5)

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Myofin Research Group @myofinlab.bsky.social · 28/02/2026

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

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Folkhälsan Research Center @folkhalsanresearch.bsky.social · 27/02/2026

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.

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Folkhälsan Research Center @folkhalsanresearch.bsky.social · 27/02/2026

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

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Folkhälsan Research Center @folkhalsanresearch.bsky.social · 27/02/2026

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

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Ali Oghabian @gacatag.bsky.social · 30/01/2026

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

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Myofin Research Group @myofinlab.bsky.social · 16/01/2026

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! 💙

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Folkhälsan Research Center @folkhalsanresearch.bsky.social · 08/01/2026

“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...

loimu.fi

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...

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Myofin Research Group @myofinlab.bsky.social · 02/01/2026

We truly appreciate this recognition and support from the university as it’s a wonderful encouragement for her research journey ahead. 🌟 (3/3)

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Myofin Research Group @myofinlab.bsky.social · 02/01/2026

Her PhD project focuses on understanding the molecular mechanisms behind titin-related myopathies, using multi-omics approaches such as transcriptomics, proteomics and translatomics. (2/3)

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Myofin Research Group @myofinlab.bsky.social · 02/01/2026

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)

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Myofin Research Group @myofinlab.bsky.social · 29/12/2025

💡 These findings identify myosin as a molecular contributor to XLMTM – like what has been seen in nemaline myopathy – and highlight myosin as a potential drug target. (5/5)

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Myofin Research Group @myofinlab.bsky.social · 29/12/2025

💊 Blocking this overactive energy use with the myosin inhibitor mavacamten in a mouse model for XLMTM, partially restored the expression of proteins critical for muscle structure, contraction and energy balance. (4/5)

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Myofin Research Group @myofinlab.bsky.social · 29/12/2025

🔬 We found that myosin behaves abnormally in relaxed muscle from human XLMTM patients and dog/mouse models, preferring a structurally disordered and highly energy-consuming biochemical state. This increase in energy usage could contribute to muscle fatiguability. (3/5)

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Myofin Research Group @myofinlab.bsky.social · 29/12/2025

Fanny and Jenni’s summary of the article: 🧬 X-linked myotubular myopathy (XLMTM) is a rare, often fatal skeletal muscle disorder caused by mutations in the myotubularin gene. Its underlying disease mechanisms remain poorly understood. (2/5)

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Myofin Research Group @myofinlab.bsky.social · 29/12/2025

🚨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)

insight.jci.org

JCI Insight - Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy

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Myofin Research Group @myofinlab.bsky.social · 23/12/2025

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

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Myofin Research Group @myofinlab.bsky.social · 19/12/2025

”Beyond the numbers, we provide concrete guidance to make TTN variant interpretation clearer and more reliable. Our goal is to reduce uncertainty and support better diagnoses and research in rare diseases." (5/5)

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Myofin Research Group @myofinlab.bsky.social · 19/12/2025

”We also observed that 0.5% carried truncating variants in heart-expressed exons, but only 4% showed cardiomyopathy.” (4/5)

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Myofin Research Group @myofinlab.bsky.social · 19/12/2025

”Yet many cases remain unexplained, suggesting missing genetic contributors such as uncertain missense variants, variant combinations or more complex mechanisms.” (3/5)

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Myofin Research Group @myofinlab.bsky.social · 19/12/2025

”In over 18,000 individuals from the Solve-RD project, we found TTN truncating variants in 1.3% of all participants and in 3.8% of those with neuromuscular symptoms.” (2/5)

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Jenni Laitila, PhD @laitilajenni.bsky.social · 17/12/2025

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

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Jenni Laitila, PhD @laitilajenni.bsky.social · 17/12/2025

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

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Myofin Research Group @myofinlab.bsky.social · 16/12/2025

”In conclusion, this study expands the spectrum of pathogenetic CASQ1 variants and increases our understanding of this relatively unknown myopathy gene." (4/4)

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Myofin Research Group @myofinlab.bsky.social · 16/12/2025

”As a novel feature of CASQ1-related myopathy, electron microscopy of patient muscle in family 1 revealed morphological alterations in the triads and the SR-feet.” (3/4)

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Myofin Research Group @myofinlab.bsky.social · 16/12/2025

”In both families a novel variant in CASQ1 segregated with the symptoms: p.(Glu89Lys) in the first family and p.(Gly383Alafs*39) in the second. Additionally, the proband of the first family carried two compound heterozygous variants in NEB, explaining her more severe symptoms.” (2/4)

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