Alessandra Ferlini | Director of the Medical Genetics Section & Unit
University of Ferrara
Alessandra Ferlini, born in Bologna, is a medical geneticists and neurologist, associate professor in medical genetics, and head of the Medical Genetics Unit at the University of Ferrara (Italy). She is also Honorary visiting professor at the University College London from 2015. She achieved her PhD in London (1995-1999) under the supervision of Prof. Francesco Muntoni, at the Imperial College of Medicine, Hammersmith Hospital Campus, she was back to Italy in 2000 and started her activity as medical geneticists in Ferrara. She coordinated/participated to 12 EU research grants and several Italian Grants (Telethon, others), she was/is Chair of several Working Groups related to Medical Genetics, as those of SIGU, ESHG, IRDiRC, ERN, EMQN, ENMC, and many others. She was PI in trials for muscular dystrophy based on AON therapies. Her research is focused on innovative genetic diagnosis, omics sciences, RNA profiling and functional studies in rare diseases, and novel nanotherapeutics in muscular dystrophies. She is Chair of the Genetic task across EU ERNs and coordinates the EU-IMI project Screen4care focus on genomic newborn screening and digital health.
Appearances:
Pre-congress workshops @ 14:00
Early Diagnosis – What’s Needed to Make Change Happen?
Moving beyond isolated advocacy to accelerate diagnosis, this workshop will holistically explore how early diagnosis fits within the rare disease ecosystem from development of diagnostic technologies, to care pathways and policy frameworks. It will be based on a three-part discussion to:
- Move beyond purely technical debates
- Elicit a range of opinions and different practices
- Align with European policy developments in rare diseases.
Day 1 @ 16:10
Panel: Early Detection and Newborn Screening (NBS) in Rare diseases
Senior Representative, Screen4Care
Day 1 @ 17:10
Screen4care EU IHI project and genomic newborn screening: mid-term results and future plans
- Screen4care EU IHI project is a collaborative effort aimed at implementing precision medicine in healthcare.
- Genomic newborn screening is a key component of this project, focusing on early detection and prevention of genetic disorders in infants.
- Mid-term results of the project show promising outcomes in terms of early diagnosis and personalized treatment plans for newborns.
- Future plans include expanding the screening program to reach more newborns and integrating genomic data into routine clinical practice.
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