Rare Paediatric Diseases

Rare diseases often manifest in childhood, presenting unique challenges for diagnosis and treatment. Examples include Batten disease, a neurodegenerative disorder, and Prader-Willi syndrome, a genetic condition affecting growth and metabolism. Paediatric patients with rare diseases require specialized, multidisciplinary care to address their complex needs. Early diagnosis, often through genetic screening, is critical for managing symptoms and improving long-term outcomes. Research into early intervention strategies and the development of paediatric-specific treatments is ongoing, aiming to provide better prognoses for young patients and reduce disease progression.

 

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