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The genetic complexity of muscle diseases: the role of digenic inheritances

By , |2025-07-28T09:42:46+00:00July 28, 2025|blog post|

The genetic landscape of muscle diseases is significantly more complex than initially anticipated.  In the so-called Mendelian inheritance, genetic diseases are caused by DNA changes (mutations) in a single gene that lead to a molecular, cellular, or tissue defect, producing a predictable disease phenotype (one gene–one disease).  Beyond the "One Gene - One Disease" [...]

Standardization and automation for re-analysis of unsolved rare muscle disease patient exomes

By , |2025-03-31T15:13:33+00:00March 31, 2025|Events, News, Post blog|

The challenge of diagnosing rare muscle diseases Imagine visiting a doctor for unexplained difficulty of walking only to be told that, despite advanced genetic testing, the cause remains unknown. This is the reality for many patients with rare neuromuscular diseases (NMDs) - a group of conditions affecting the muscles and nerves. Scientists have linked [...]

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