Ali Oghabian

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...)

‘Am I redundant?’: how AI changed my career in bioinformatics A run-in with some artefact-laden AI-generated analyses convinced Lei Zhu that machine learning wasn’t making his role irrelevant, but more important than ever.

A run-in with some artefact-laden AI-generated analyses convinced Lei Zhu that machine learning wasn’t making his role irrelevant, but more important than ever

go.nature.com/4hd7MCU

A few highlights from a great week at #WMS2025 in #Vienna with the @myofinlab.bsky.social team!

Heading back to Helsinki after an inspiring #WMS2025. Grateful for an excellent meeting, a beautiful host city, and the chance to connect with brilliant colleagues and scientists

Great times with the Myofin team (@myofinlab.bsky.social) at #WMS2025 In Vienna !😂

@jaakkosarparanta.bsky.social presenting in the poster highlights session! 👏
#WMS2025
@worldmusclesociety.org

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

Interested in the regulation of RNA splicing in skeletal muscle development and function? Come by my poster (442P) this evening from 17:15 to 18:15 at #WMS2025.

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

Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis Abstract. Heterozygous pathogenic variants in the SGMS2 gene, encoding the sphingomyelin-synthesizing enzyme sphingomyelin synthase 2, cause a rare monogen

"Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis." Our manuscript in accepted format (by JBMR Plus) is now online: academic.oup.com/jbmrplus/art... @folkhalsanresearch.bsky.social

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

🚨Publication alert!🚨

doi.org/10.1177/2214...

First author Milla’s summary of the article:

”The objective of this study was to identify and further investigate the causative genetic variant in a patient with lethal nemaline myopathy.” (1/6)
#MyoBlue

Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

"A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report" - by Milla Laarne, et al. (Myofin lab)- just got published in the Journal of Neuromuscular Diseases journals.sagepub.com/doi/10.1177/...

Our team is excited to connect – come find us at #ESHG2025, or reach out to set up a meeting. Let’s talk science, collaboration, and future ideas!

@eshg.bsky.social
#ESHG #Networking #ResearchCollaboration #Myofin

Our senior researcher @laitilajenni.bsky.social has published her final project from her postdoc in Copenhagen. Jenni's passion is elucidating the pathogenetic mechanisms underlying nemaline myopathy.

May is the official #NMAwarenessMonth – take a look at buildingstrength.org for more information 💙

We had the pleasure to attend the Scientific Days organized by @folkhalsanresearch.bsky.social at Haikko. Fanny (single-fibre studies) and Milla (nanopore-sequencing) took part in the poster pitching session and had posters on display … (1/3)

Cherry on top of the first of the Folkhälsan Scientific days; presentation by Finnish psychotherapist, actor and screen writer Kari Ketonen (the star of the popular Luottomies TV shows and movie) on how to stress less. @folkhalsanresearch.bsky.social @folkhalsan.bsky.social

Running aggregate on wide matrices takes loooong; use nested apply or data tables instead ! The aggregate function can be very useful in R, allowing one to run a function (e.g. mean ) within groups of rows, in each column in a matr...

Running aggregate() on wide matrices takes loooong; better to use nested apply or data tables instead ! gacatag.blogspot.com/2025/04/runn... #Rprogramming #gacatag

Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort Background Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading t...

🚨Publication alert!🚨

First author Victoria’s summary of the paper:

”Genetic testing can leave many rare muscle disease patients without answers.” (1/4)

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development - Skeletal Muscle Background Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it plays a...

🚨Publication alert!🚨

First author Ali’s summary of the paper:

skeletalmusclejournal.biomedcentral.com/articles/10....
(1/6)

An interactive PSI visualization (developed using #RShiny) for the exon inclusion of #OBSCN in our studied pre- and post-natal skeletal and cardiac muscle samples is available at psivis.it.helsinki.fi:3838/OBSCN_PSIVIS/ , #NMD #AlternativeSplicing #RNA #PSIVIS

#OBSCN a #gene associated with #muscle function, has 121 exons. It codes for large RNAs, not easily detectable in their full lengths. We used IntEREst #Bioconductor package to measure PSI for inclusion of each exon in #RNA & run differential exon inclusion across the samples.

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development - Skeletal Muscle Background Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it plays a...

Our paper about the alternative splicing of #OBSCN during skeletal #muscle and #cardiac muscle development, was just published in BMC #SkeletalMuscle, doi.org/10.1186/s133...

#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)