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Mridul Johari

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Mridul Johari

Dr, PhD

 https://orcid.org/0000-0002-3549-558X

  • The University of Western Australia (M519), 35 Stirling Highway,

    6009 Perth

    Australia

Personal profile

Biography

Dr Mridul Johari is a Postdoctoral Research Fellow at the Harry Perkins Institute of Medical Research and an emerging leader in the field of neuromuscular genomics. He completed his PhD in 2022 under the supervision of Prof. Bjarne Udd at the University of Helsinki, where his thesis was publicly defended before distinguished opponent Prof. Kevin Campbell (University of Iowa).

Dr Johari’s research focuses on solving clinically unsolved rare muscle diseases through gene discovery, variant interpretation, functional modelling, and diagnostic curation. Since 2020, he has established six novel gene–disease associations, leading to diagnostic resolution for more than 100 families worldwide. Several of these genes are now included in international neuromuscular testing panels, reflecting the translational impact of his research.

He has secured over $350,000 in competitive funding as Chief Investigator, including an international postdoctoral fellowship from AFM-Téléthon (France) and the Raine Priming Grant (Western Australia).

Dr Johari’s research has been recognised through multiple awards, including the Elsevier Prize (World Muscle Society 2020) and Reviewer’s Choice Award (American Society of Human Genetics 2020), and has been presented at international meetings including WMS, European Society of Human Genetics, the International Congress of Neuromuscular Diseases, and the Australasian Neuromuscular Network.

Dr Johari plays a central role in shaping diagnostic policy and research standards in his field. He was invited to the ENMC diagnostic revision group for inclusion body myositis (2023) and appointed as an associated board member for the International Myositis Society (iMyos). He contributed to gene curation efforts within Muscular dystrophy and Myopathy gene panels at ClinGen, where he was instrumental in classifying DNAJB6 and CRPPA as “definitive” disease genes.

He is also highly engaged in research leadership and service. As Chair of the European Society of Human Genetics (ESHG)-Young Committee (2022–2025), he has expanded the committee’s role from early-career representation to strategic influence. He launched the ESHG MatchMaking mentoring series and led the ESHG Get2Gather initiative, connecting EMCR representatives from 11 countries to foster international collaboration. As a member of the ESHG Scientific Programme Committee, he proposed and organised thematic sessions with a focus on neuromuscular genomics for the ESHG annual meetings in Vienna (2022), Glasgow (2023), Berlin (2024), and Milan (2025)—all of which were accepted into the main program. He has co-chaired eight sessions across these conferences. In recognition of his leadership, he was appointed to the ESHG Board in 2025 as its only Australian early-career representative, where he contributes to strategic governance, abstract review and community outreach. He also serves as Section Editor (Molecular Genetics) for the European Journal of Human Genetics.

At UWA, Dr Johari co-supervises two PhD students, one Master’s student, and one Honours student, and is an advocate for equity and EMCR development as a member of the Perkins-EMCR Committee.

Dr Johari’s research continues to bridge genomic discovery with clinical implementation, advancing diagnostics for rare disease and building global networks in muscle genomics.

Funding overview

2025–2026 CI: Mridul Johari, From Coding to Cryptic – Exploring the RNA World of Inclusion Body Myositis (IBM). Raine Priming Grant (RPG075-2024), Raine Medical Research Foundation. AUD $247,815.63

2023–2024 CI: Mridul Johari, IDIAGUM – Improved diagnostics and gene discovery for unsolved myopathies. Association Française contre les Myopathies (AFM-Téléthon), Grant No. 24438. EUR €57,000

Pre PhD-Funding (Stipend/Consumables)

2022 CI: Mridul Johari, Molecular genetics of unsolved adult onset rimmed vacuolar myopathies. Paulo Foundation (Helsinki). EUR €4,000

2021 CI: Mridul Johari, Molecular genetics of rimmed vacuolar myopathies. Biomedicum Helsinki Foundation (Helsinki). EUR €4,000

2021 CI: Mridul Johari, Functional characterization of different pathogenic mutations in heterogeneous ribonuclear protein A1 (HNRNPA1) causing both proximal and distal myopathy phenotypes. Magnus Ehrnrooth Foundation (Helsinki). EUR €5,000

2021 CI: Mridul Johari, Molecular genetics of inclusion body myositis and adult onset rimmed vacuolar distal myopathies. Päivikki ja Sakari Sohlbergin Foundation (Helsinki). EUR €6,000

2020 CI: Mridul Johari, Functional characterization of small muscle protein X (SMPX) gene. Magnus Ehrnrooth Foundation (Helsinki). EUR €5,000

2019 CI: Mridul Johari, Characterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM). Päivikki ja Sakari Sohlbergin Foundation (Helsinki). EUR €10,000

2018 CI: Mridul Johari, Molecular genetics of Sporadic Inclusion Body Myositis (sIBM). Biomedicum Helsinki Foundation (Helsinki). EUR €4,000

2016–2018 Mridul Johari, Molecular genetics of Sporadic Inclusion Body Myositis (sIBM) and other neuromuscular disorders. Finska Läkaresällskapets Foundation (Helsinki). EUR €73,000

Current projects

  1. Understanding inclusion body myositis (IBM)
  2. Cracking the 'Tubulin code' in diseases associated with TUBA4A

Roles and responsibilities

  • Seminar Coordinator, Harry Perkins Institute of Medical Research (2025–present)

  • Member, Educational Committee (EduCom), European Society of Human Genetics (2025–present)

  • Board Member, European Society of Human Genetics (2025–present)

  • Social Event Coordinator, Perkins EMCR Committee, Harry Perkins Institute (2024–present)

  • Member, Environmental Sustainability Committee, World Muscle Society (2024–present)

  • Associate Board Member, International Myositis Society (iMyos) (2023–present)

  • Research Representative, Human Genetics Society of Australasia (HGSA), WA Branch (2023–present)

  • Section Editor (Neuromuscular Genetics), European Journal of Human Genetics (2022–present)

  • Curator, SMPX gene, Leiden Open Variation Database (LOVD) (2021–present)

  • Biocurator, Muscular Dystrophies and Myopathies Gene Curation Expert Panel, Clinical Genome Resource (ClinGen, NIH-funded) (2021–present)

  • Acting Editor-in-Chief, European Journal of Human Genetics (2024, ad hoc — conflict of interest case)

  • Chairperson, ESHG-Young Committee, European Society of Human Genetics (2022–2025)

  • Member, Scientific Programme Committee, European Society of Human Genetics (2022–2025)

Languages

English, Hindi, Swedish, Finnish

Education/Academic qualification

Molecular Genetics, PhD, Molecular Genetics of Inclusion Body Myositis and Late onset Rimmed Vacuolar distal myopathies, University of Helsinki

Award Date: 26 Jan 2022

External positions

Visiting Researcher, University of Helsinki

2022 → 31 Dec 2024

Research expertise keywords

  • Genomics
  • Molecular genetics
  • Disease modelling

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  1. SDG 4 - Quality Education
    SDG 4 Quality Education
  2. SDG 17 - Partnerships for the Goals
    SDG 17 Partnerships for the Goals

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