Myofin Research Group

myofinlab.bsky.social

28 February 2026 08:10

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)

Myofin Research Group

myofinlab.bsky.social

28 February 2026 08:10

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)

Myofin Research Group

myofinlab.bsky.social

28 February 2026 08:10

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)

Myofin Research Group

myofinlab.bsky.social

28 February 2026 08:10

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)

Myofin Research Group

myofinlab.bsky.social

29 December 2025 14:36

💡 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)