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Myofin Research Group

@myofinlab.bsky.social

28 followers 29 following 100 posts

🧬 We research the various aspects of hereditary myopathies and muscular dystrophies 📍 @folkhalsanresearch.bsky.social , Helsinki, Finland https://linktr.ee/myofin

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Myofin Research Group @myofinlab.bsky.social · Feb 10

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

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Myofin Research Group @myofinlab.bsky.social · 3d

Our team is excited to connect - come find us at the @worldmusclesociety.org congress. 🇦🇹 Let’s talk science, collaboration, and future ideas! 🧬🤝💡
#WMS2025

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Myofin Research Group @myofinlab.bsky.social · 4d

Special thanks to Fleur, Tom, Leander, Buram and Osman for letting us tag along on their experiments! The plan is to come back next spring/summer for some real experiments. 🤩 (2/2)

Myofin Research Group @myofinlab.bsky.social · 4d

During the week in between EMC and WMS, Jenni and Fanny visited the de Winter, Ottenheijm and Kirby labs at the Department of Physiology at Amsterdam UMC for an intro to single fibre mechanics and some interesting imaging techniques. 🇳🇱🔬 (1/2)

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Reposted by Myofin Research Group

Jaakko Sarparanta @jaakkosarparanta.bsky.social · 5d

Starting my voyage towards Vienna and #WMS2025 on the Helsinki–Stockholm ferry.

Helsinki south harbour and cathedral from the sea.

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Reposted by Myofin Research Group

Jaakko Sarparanta @jaakkosarparanta.bsky.social · 11d

Two years from today #Helsinki and #Finlandiahall will welcome #WMS2027, the annual congress of @worldmusclesociety.org. Save the date!

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Myofin Research Group @myofinlab.bsky.social · 19d

Greetings from the opening ceremony of the European Muscle Conference 2025! 🇳🇱 #EMC2025 #EuropeanMuscleConference

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Myofin Research Group @myofinlab.bsky.social · 20d

Our team is excited to connect - come find Jenni, Jaakko and Fanny at the European Muscle Conference. 🇳🇱 Let’s talk science, collaboration, and future ideas! 🧬🤝💡
#EMC2025 #EuropeanMuscleConference

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Myofin Research Group @myofinlab.bsky.social · 21d

Myofin ”Summer” meeting in Nuuksio 🧬💡🌲. A couple of days filled with insightful scientific talks and interactive discussions on current and upcoming projects! On Wednesday evening it was sauna time and we grilled sausage over the fire 🧖🔥🪵.

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Myofin Research Group @myofinlab.bsky.social · Sep 4

Our team is excited to connect - come find Johanna at the Norwegian Conference for Hereditary Neuromuscular Disorders. 🇳🇴 Let’s talk science, collaboration, and future ideas! 🧬🤝💡

Reposted by Myofin Research Group

Ali Oghabian @gacatag.bsky.social · Aug 7

Registration for the @myofinlab.bsky.social - organized course, ILS144: "Genetic and genomic technologies in health care" is open. Link: tinyurl.com/43n2ydwu @folkhalsanresearch.bsky.social @helsinki.fi

Studies

tinyurl.com

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Reposted by Myofin Research Group

Jenni Laitila, PhD @laitilajenni.bsky.social · Jul 11

When you get a feeling that someone's watching.. Our summer student making great progress with our AI analyses ❤️💪🔬 #muscleresearch #raredisease #myoblue @myofinlab.bsky.social @folkhalsanresearch.bsky.social

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Reposted by Myofin Research Group

Jenni Laitila, PhD @laitilajenni.bsky.social · Jul 5

So many reasons to celebrate! And these guys are always up for some bubbles 🎉🥂💪🔬 @myofinlab.bsky.social @folkhalsanresearch.bsky.social

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Reposted by Myofin Research Group

The Journal of Physiology @jphysiol.bsky.social · Jun 25

Recent #Research by Jenni Laitila of folkhalsanresearch.bsky.social‬ et al. observes tha#pathogenicic TNNT1 variants are associated with aberrant thin filament compliance an#myofibrere hyper-contractility 🔬 🧬

🔗 Read the work here: https://physoc.onlinelibrary.wiley.com/doi/10.1113/JP288109

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Reposted by Myofin Research Group

Folkhälsan Research Center @folkhalsanresearch.bsky.social · Jun 25

Elina Engberg and Jenni Laitila are new Academy Research Fellows, and a joint project on the oral microbiome in health and disease received Academy Project Funding.
@elinaengberg.bsky.social @laitilajenni.bsky.social @myofinlab.bsky.social @fin-hit.bsky.social
research.folkhalsan.fi/news-article...

Two new Academy Research Fellows and one joint Academy Project at Folkhälsan Research Center receive funding

The Research Council of Finland’s Scientific Council for Biosciences, Health and the Environment has granted funding to two new Academy Research Fellows at Folkhälsan Research Center. Elina Engberg an...

research.folkhalsan.fi

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Myofin Research Group @myofinlab.bsky.social · Jun 23

What is your favourite food?
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“As an Italian, for me pizza is the best food in the world! However, lately I've realized that also korvapuusti is not so bad...”

Three words that describe you
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“Curious, enthusiastic and a bit "weather-sensitive".” (5/5)

Myofin Research Group @myofinlab.bsky.social · Jun 23

▫️Get to know Alessandra! 👋

Your favourite experiment/analysis to perform?
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“I like working with cells because culturing them is very stimulating and relaxing at the same time.” (4/5)

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Myofin Research Group @myofinlab.bsky.social · Jun 23

She is now spending 6 months as a visiting student at Folkhälsan, working at the generation of an in vitro model of PLIN4-related myopathy. (3/5)

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Myofin Research Group @myofinlab.bsky.social · Jun 23

She is currently a PhD student at the University of Milan and Istituto Neurologico Carlo Besta, focusing on the investigation of the pathogenetic mechanisms underlying a very rare muscular disorder. (2/5)

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Myofin Research Group @myofinlab.bsky.social · Jun 23

Meet our visiting researchers! 🧬🌍

▫️Alessandra Carnazzi (MSc), Doctoral researcher

Alessandra is originally from Italy. She pursued her master’s degree in medical biotechnology at the University of Milan. (1/5)

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Myofin Research Group @myofinlab.bsky.social · Jun 19

"In the families where inheritance was recessive, no correlation could be made between the types of variants and the severity of the disease. In contrast, all patients with large dominant deletions in NEB had milder, predominantly distal muscle weakness." (4/4)

Myofin Research Group @myofinlab.bsky.social · Jun 19

"In this article, we present 35 families with pathogenic SVs in NEB; of these, 12 are families with distal myopathy caused by eight unique deletions encompassing 52-97 exons. In ten of these families, the SV was in heterozygous, and in two families, in mosaic state." (3/4)

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Myofin Research Group @myofinlab.bsky.social · Jun 19

"...recessively inherited nemaline myopathies and related neuromuscular disorders, while large deletions have been shown to cause dominantly inherited distal myopathies." (2/4)

Myofin Research Group @myofinlab.bsky.social · Jun 19

🚨Publication alert!🚨

First author Lydia’s and last author Vilma-Lotta’s summary of the article:

"The majority of known structural variants (SVs) of the nebulin gene (NEB), such as intragenic duplications, deletions, and copy number variants of the triplicate region, cause..." (1/4)

#MyoBlue

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions - European Journal of Human Genetics

European Journal of Human Genetics - Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

www.nature.com

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Myofin Research Group @myofinlab.bsky.social · Jun 17

We also want to congratulate our fellow researchers at @folkhalsanresearch.bsky.social , who received funding for their research. Congratulations! 💙

Myofin Research Group @myofinlab.bsky.social · Jun 17

"We use novel single muscle-fibre methods, serving as a platform for finding new therapeutic targets and identifying patients who would benefit from a specific therapy.” (3/4)

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