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...

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

academic.oup.com

Great discussions yesterday in Helsinki @myofinlab.bsky.social @folkhalsanresearch.bsky.social! Thanks to Francesco Saverio Tedesco @fstedesco.bsky.social for sharing exciting work and exploring new collaborations together. Looking forward to what’s next!

🧬 Had a fantastic time at the #MDA Conference in Orlando! I shared some of our work on titin (TTN). Great discussions and new ideas sparked with colleagues working on #titin related myopathies. Excited for what comes next! 💪 #MDAConference @myofinlab.bsky.social @folkhalsanresearch.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

🚨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

#RareDiseaseDay is on the last day of February (28th or 29th). Approximately 5% of the world's population is affected by a rare disease. Rare Disease Day is an important initiative for us, as nearly 90% of neuromuscular disorders are classified as rare diseases. (1/5)

A significant portion of patients with neuromuscular disease remain without a genetic diagnosis, and most neuromuscular disorders still lack a cure. Our work is crucial for providing proper diagnoses and ultimately developing therapies for these patients. (6/6)

While our main interest are neuromuscular disorders caused by mutations in the titin (TTN) and nebulin (NEB) genes, there are many other projects always going on in the group. (5/6)

… to investigate nutrition and self-reported functioning in persons with neuromuscular diseases, and to evaluate therapeutic interventions. (4/6)

Our research aims to identify the genetic variants causing neuromuscular disorders, to understand the normal structure and function of muscle and their alterations in disease, … (3/6)

Our team, led by Dr. Marco Savarese, studies different aspects of hereditary myopathies and muscular dystrophies, continuing the work of the Carina Wallgren-Pettersson and Bjarne Udd groups at FHRC. (2/6)

We are the Myofin Research Group, part of the Genetics Research Program at Folkhälsan Research Center, Helsinki, Finland. (1/6)

Analyzing 145 hard-to-detect variants using HiFi long-read sequencing (LRS), ajhgnews.bsky.social latest article by christiangilissen.bsky.social, ahoischen.bsky.social, & co. highlight LRS as a promising single technology for rare disease diagnosis: www.cell.com/ajhg/abstrac... #ASHG