In a compelling contribution to the European Joint Programme on Rare Diseases’ MOOC “Innovative Therapies and Personalized Medicine for Rare Disease,” led by CVBF, Prof. Annamaria De Luca from Università degli Studi di Bari ‘Aldo Moro’, shared crucial insights on why personalized approaches are essential for rare disease patients facing diagnostic and therapeutic challenges.

The presentation tackled the “diagnostic odyssey” – the often years-long journey rare disease patients face before receiving accurate diagnosis. With 6,000-8,000 identified rare diseases, approximately 80% being genetic, traditional “one-fits-all” approaches fall short of meeting patient needs.

Prof. De Luca outlined how personalized medicine is revolutionizing treatment through various innovative approaches, including Advanced Therapy Medicinal Products (ATMPs), RNA-targeted therapies, and protein-signaling interventions. Success stories like mutation-specific treatments for cystic fibrosis and antisense oligonucleotides for neuromuscular disorders demonstrate the potential of tailored therapies.

“For a rare patient, personalized medicine means a clear diagnosis, an individual path of cure, and a sound basis to discover disease-transforming therapies”, Prof. De Luca emphasized. She highlighted how multi-omics approaches and genotype-phenotype correlation studies are advancing our understanding and treatment of rare diseases.

The presentation also addressed the importance of pharmacy compounding and e-health solutions in delivering personalized care, acknowledging that while challenges remain in terms of costs and scalability, regulatory incentives and advancing technologies are making personalized medicine increasingly accessible to rare disease patients.