…TIMESLOT: Friday 11 April 2025 16:00 CEST
…THEME: Genetic Diagnosis of Neuromuscular Diseases
…PRESENTERS: Dr. Marcella Neri (Azienda Ospedaliero – Universitaria di Ferrara, Italy) Arabela Acalinei (EAMDA, Romania) & Madelon Kroneman (Spierziekten Nederland)
Dr. Marcella Neri is a consultant in Medical Genetics at the Medical Genetic Unit of Azienda Ospedaliera Universitario S. Anna, Ferrara. She holds a degree in Medicine and Surgery (2000), a specialization in Medical Genetics (2004), and a PhD in Pharmacology and Molecular Oncology (2007) from the University of Ferrara. With extensive experience in genetic counseling and molecular analysis of hereditary neuromuscular disorders, she is actively involved in the ERN EURO-NMD network. Dr. Neri has also contributed to research projects on high-throughput diagnosis of neuromuscular disorders and served as an ethics committee member at S. Anna Hospital.
Arabela Acalinei serves as the President of Neuro Move CMT Association in Romania and President of EAMDA – the European Alliance of Neuromuscular Disorders Associations. She is Strategic Partnerships and Funding Director of the European Charcot-Marie-Tooth Federation and a Board Member of EFNA (European Federation of Neurological Associations).
In 2022, she became ePAG in EURO-NMD ERN, contributing in Peripheral Nerve Diseases working group and the Inter-ERN working group on Gene therapy. Since 2024 she is part of the ERN’s Patient Advisory Board. Arabela is herself a patient with Charcot-Marie-Tooth type 1A disease and has several members in her family with the same condition, her 2 sons included. Dealing with such a disease, ignited her passion for patient advocacy, particularly for individuals living with CMT and similar neuromuscular disorders.
In her professional life, Arabela is a Romanian-English teacher, translator, and professional trainer. Her educational background also includes trainings in Project Management and Career Counseling for people with disabilities. She is a EURORDIS Winter and Summer School alumni, EUPATI fellow and a member of EURORDIS HTA Task Force.
Beyond her advocacy and professional pursuits, she is passionate about reading, learning, traveling and connecting to people.
Madelon Kroneman is active as a volunteer for the Dutch Patient Association for Neuromuscular Diseases (Spierziekten Nederland) for about 25 years now. As a member of the diagnosis working group for hereditary muscular dystrophies and myopathies, she is involved in following research into therapies and treatment of these diseases. Since 2018, she is member of the Patient Advisory Board of the ERN-EURO-NMD. She was involved in several international surveys among patients, for instance on psychosocial support, bone strength and training.
Madelon lives with myofibrillar myopathy, for approximately 30 years now. She is working at the Dutch Institute of Health Services Research as senior researcher and is, amongst others, involved in research that supports EU policy making. She is living in a small village in the Netherlands with her husband. Her two daughters are grown up and no longer living at home.