Samfundet Folkhälsan i svenska Finland, Principal Investigator; University of Helsinki, Docent (Assistant Professor) and Visiting researcher
Education summary
2004: B.S. in Biotechnology, University of Naples “Federico II”, Naples, Italy; 2006: M.Sc. in Medical Biotechnology, University of Naples “Federico II”, Naples, Italy; 2011: Specialization/Residency in Laboratory Medical Genetics, University of Naples “Federico II”, Naples, Italy; 2014: PhD in Medical Genetics, University of Campania ´Luigi Vanvitelli´
Career summary
I am a geneticist dedicated to uncovering the genetic and molecular basis of neuromuscular disorders. I earned my specialisation and PhD in Medical Genetics at the Telethon Institute of Genetics and Medicine, Naples, under the supervision of Prof. Nigro.
In 2015, I joined the Folkhälsan Research Center and the University of Helsinki as a Senior Scientist, contributing to studies on the genetic architecture of titin and other inherited muscle disorders by integrating advanced genomics with functional analyses in cellular and animal models. In 2019, I was honoured with the President’s Prize as Young Myologist of the Year at the WMS Congress in Copenhagen.
Muscle disease research at Folkhälsan began in the 1990s with the groups of Dr. Wallgren-Pettersson (led by Dr. Pelin since 2024) and Prof. Udd (administrative leader, Dr. Hackman). In 2021, I established my own group at Folkhälsan, focusing on genotype–phenotype correlations in myopathies and linking patient-derived data to mechanistic insights to improve diagnosis and therapy. In 2025, these three groups merged to form MyoFin, a comprehensive neuromuscular research unit spanning fundamental myology to genetic and clinical studies, which I have the honour of leading.
As MyoFin Group Leader, I am proud that our team has contributed to the identification of several new disease genes and mechanisms and that we are recognised as one of the world’s leading experts on titinopathies. I currently chair the WMS Prize Committee, supporting emerging researchers and promoting excellence in the neuromuscular field.
What is the personal or professional achievement you’re most proud of?
I am most proud of building and mentoring a research team where young scientists can grow, thrive, and achieve their own career milestones. Nothing is more rewarding than seeing new lab members arrive with curiosity and uncertainty, then develop the skills, confidence, and independence to lead their own projects. I take particular pride in watching them publish their first papers, present at international conferences, and secure competitive fellowships or independent positions.
Supporting their professional development, fostering a collaborative and respectful environment, and celebrating their achievements has been one of the most meaningful aspects of my career. I am especially committed to creating an equitable and inclusive space that brings together scientists from diverse professional and geographical backgrounds, as I believe diversity strengthens both our team and the impact of our research.
At the same time, each small or large discovery that has helped a patient, directly or indirectly, is deeply gratifying, as it reminds me of the ultimate purpose of our research.
Why did you first join the WMS?
I first joined the WMS because I believe that having a strong, connected community is essential for advancing science and supporting one another as researchers. Working in the field of neuromuscular disorders can sometimes feel like navigating very specific challenges in isolation, and the WMS offers a place where knowledge, ideas, and experiences can be shared openly.
Being part of such a community means learning from colleagues with diverse expertise, finding inspiration in their work, and building collaborations that might not happen otherwise. It’s also about having a network of people who understand the scientific and human aspects of what we do. For me, the WMS is more than a Congress or Society. It’s a family working together to move the field forward.
What is your goal in joining the Executive Board?
Throughout my career, I have led and contributed to international consortia (e.g., Titin consortium, MotorPlex, ClinGen, SolveRD), always striving to build bridges across borders and ensure that innovation benefits all patient communities, regardless of geography or resources. My approach to science is grounded in collaboration, equity, and open access. These same principles are the foundation on which I believe the World Muscle Society can continue to grow and lead.
As the main scientific entity in the field of myology, WMS has a unique opportunity to:
• Champion equity by expanding access to WMS opportunities, awards, and educational resources for colleagues in underrepresented and underserved settings;
• Foster international collaboration through sustainable networks connecting diverse institutions and clinical/research environments;
• Support early-career colleagues via mentorship, transparent recognition, and expanded training initiatives;
• Promote translational impact, ensuring that genetic discoveries lead to tangible improvements in patient care and health policy.
The World Muscle Society reflects the best of what we can achieve together as scientists, clinicians, and advocates. It would be a true honour to contribute to shaping its future as a member of the Board.
