Neonatal Screening and Inherited Metabolic Diseases

This programme aims to provide advanced theoretical and practical training regarding expanded newborn screening and inherited metabolic diseases (IMDs), allowing participants to gain the multidisciplinary expertise needed to identify and diagnose these conditions early on, ensuring proper treatment and follow-up of patients. Lectures will delve deep into the clinical, genetic, biochemical and nutritional peculiarities of the main IMDs in paediatric and adult patients, so as to produce professionals capable of managing expanded newborn screening programmes with special attention to the methodological, organisational, diagnostic and communicative aspects. In order to facilitate the development of practical skills in the diagnosis and monitoring of IMDs, participants will be introduced to advanced biochemical, genetic and laboratory methods. At the same time, teaching will constantly foster a holistic and person-centred approach to treatment, including nutrition, pharmacological therapy and psychological support, with a focus on patients who are transitioning into adulthood. The programme also places an emphasis on clinical translational research, encouraging active participation from students and raising their interest in the future prospects of early diagnosis and novel therapies. Lastly, there will be a focus on communicating with patients' families, which requires excellent ethical and relational skills, particularly during genetic consultation, when doctors have to handle the psychological implications of an early diagnosis.

The programme will begin in the second semester of AY 2025/2026 at the University of Milan. It includes 343 hours of lectures (equivalent to 38 university credits, or CFU), and 158 hours of other forms of training (12 CFU), 28 of which will be delivered in e-learning format.

The tuition fee for participants will be euro 5,016.00, including the insurance costs