Mridul Johari

Dr. Mridul Johari is a Researcher at the University of Western Australia (UWA), affiliated with the UWA Medical School and the UWA Centre for Medical Research (part of the Harry Perkins Institute of Medical Research). He holds a PhD in Molecular Genetics from the University of Helsinki (2022), focusing on neuromuscular diseases. His research focuses on unraveling the molecular genetics of congenital, early, and late-onset skeletal muscle diseases, with a goal to improve diagnosis and treatment outcomes.

• PhD: Molecular Genetics of Inclusion Body Myositis and Late-onset Rimmed Vacuolar Distal Myopathies (University of Helsinki, 2022)
• Visiting Researcher at University of Helsinki (2022–2024)

Research Interests:
Dr. Johari’s work spans molecular genetics, neuromuscular disorders, and rare disease diagnostics. He investigates genetic variants linked to skeletal muscle diseases such as distal myopathies and inclusion body myositis. His studies combine genomic, transcriptomic, and clinical data to identify disease mechanisms and improve diagnostic approaches. Recent projects include analyzing multi-omics data to uncover HLA overexpression in inclusion body myositis and studying alternative splicing in OBSCN gene during muscle development.

Article Trends:
His publications emphasize genetic diagnosis, rare disease mechanisms, and multi-omics analysis. Key themes include identifying novel disease-causing genes (e.g., SPTAN1, PAX7), exploring splicing patterns in muscle development, and addressing ethical/legal issues in prenatal genetic counseling.

• Scientific Awards: Biomedicum Young Investigator Awards (2018, 2021), Elsevier Best Poster Award (2020)

Grants & Projects:
He leads the Raine Foundation-funded project 'From Coding to Cryptic - Exploring the RNA World of Inclusion Body Myositis (IBM)' (2025–2026). His work also involves collaborations with the European Society of Human Genetics and World Muscle Society.

Labs & Teams:
Affiliated with UWA Centre for Medical Research and Harry Perkins Institute, collaborating internationally on neuromuscular disease research through networks like the European Reference Networks.