iiinova — where your digital self keeps evolving

Marco Savarese @marsavarese.bsky.social · 21/04/2026

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!

022

Marco Savarese @marsavarese.bsky.social · 11/03/2026

🧬 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

011

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 27/11/2025

🚨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)

onlinelibrary.wiley.com

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....

121

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 28/02/2025

#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)

175

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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)

011

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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)

111

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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

101

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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)

101

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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)

101

Reposted by Marco Savarese

Myofin Research Group @myofinlab.bsky.social · 10/02/2025

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

163

Reposted by Marco Savarese

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 23/01/2025

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

023