معرفی
Claudia Milazzo is a Researcher in the Department of Clinical Genetics at Erasmus MC, specializing in neurogenetic disorders with particular focus on Angelman Syndrome. Her work bridges molecular genetics and therapeutic development using advanced mouse models and antisense oligonucleotide technologies.
Her primary research interests include:
- Angelman Syndrome pathophysiology and genetic mechanisms
- Antisense oligonucleotide therapeutics for neurodevelopmental disorders
- UBE3A gene regulation and function
- Mouse models of genomic imprinting disorders
- Neurodevelopmental defect mechanisms in syndromes like Mowat-Wilson
Milazzo's publication record demonstrates a clear trajectory in developing targeted therapies for genetic neurodevelopmental conditions. Her 2021 paper in JCI insight established foundational work on antisense oligonucleotide treatment for Angelman Syndrome, which has received 55 citations and been referenced in patent applications. Her more recent 2025 publications in Molecular Autism and her doctoral thesis represent significant advances in restoring UBE3A function and proteome balance in mouse models, suggesting promising translational potential.
Collaborating primarily with Y. Elgersma, E. Mientjes, and T. Kremer, Milazzo has contributed to multiple high-impact publications that have garnered attention across academic and clinical communities, with her work being shared by X (Twitter) users and attracting substantial readership on academic platforms.
