Katarina Pelin

Katarina Pelin is a Senior University Lecturer at the University of Helsinki, affiliated with the Faculty of Biological and Environmental Sciences and the Molecular and Integrative Biosciences Research Programme. Her work focuses on Genetics, Developmental Biology, and Physiology, particularly in neuromuscular disorders like nemaline myopathy.

• 1985–present: Active researcher in neuromuscular disorders
• 2012–present: Co-PI and administrative leader at Folkhälsan Institute of Genetics

Her recent publications (2021–2025) highlight advancements in genetic diagnostics for muscle diseases, including linked-read sequencing, ddPCR methods, and phenotype-genotype correlations. Key genes studied: TNNT1, NEB, ACTA1, and TPM3.

She actively contributes to peer review (Acta Neurologica Belgica, BMC Pediatrics, Science Translational Medicine) and doctoral supervision. Her research emphasizes copy number variations, gene expression, and muscle regulatory proteins.