Special Interview with Prof. Antonio Persico: Insights into Autism Spectrum Disorder and Genetic Research
On November 4, 2025, the editorial team of Rare Diseases and Orphan Drugs Journal (RDODJ) conducted an in-depth interview with Prof. Antonio Persico, a leading researcher in neurodevelopmental genetics. During the discussion, Prof. Persico shared his perspectives on the clinical and genetic heterogeneity of Autism Spectrum Disorder (ASD), findings from his work on Phelan-McDermid Syndrome, and the potential of biomarkers and gene-driven strategies in guiding personalized therapies. He also addressed key challenges in drug development and intervention strategies for ASD, highlighting the importance of considering critical developmental periods, genotype-phenotype correlations, and subgroup-specific clinical trials.
Interview Questions:
1. In your studies on monogenic syndromes associated with ASD, which key mechanisms have you focused on, and how do these findings advance our understanding of ASD heterogeneity? (Autism genetics)
2. What experimental strategies or models are you currently using to explore pharmacological treatments for ASD, and how do these approaches help identify promising compounds? (The pediatric psychopharmacology of autism spectrum disorder: A systematic review - Part I: The past and the present)
3. In your studies of Phelan-McDermid Syndrome (PMS) patients, which clinical or developmental features have provided the most insight into ASD heterogeneity, and how might these findings inform future interventions or personalized therapies? (Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome)
4. How do you see the role of genes or biomarkers shaping personalized pharmacological treatments for ASD, and which approaches appear most promising today? (Developing Gene-Based Personalised Interventions in Autism Spectrum Disorders)
5. Considering the complex heterogeneity of ASD and related monogenic syndromes, what do you consider the main challenges for drug development and clinical intervention research over the next few years?
About the Interviewee:
Prof. Antonio Persico is a distinguished investigator in neurodevelopmental genetics with extensive experience bridging clinical research, genetic studies, and translational medicine. He is currently affiliated with the University of Modena and Reggio Emilia, Italy. Prof. Persico has authored over 210 original papers and book chapters, focusing on the genetic, biochemical, and neurodevelopmental mechanisms underlying ASD and related syndromes. His research has significantly contributed to the understanding of monogenic forms of ASD, gene-environment interactions, and the identification of biomarkers for personalized therapeutic approaches.
Editor: Monica
Language Editor: Catherine Yang
Production Editor: Ting Xu
Respectfully Submitted by the Editorial Office of Rare Disease and Orphan Drugs Journal
