InNerMeD is glad to announce the launch of the first of a series of e-learning courses that will be produced in the framework of the InNerMeD project.

  • Innovative approaches to develop paediatric drugs for iNMDs”, Dr. Giovanni Smania (Consorzio per Valutazioni Biologiche e Farmacologiche, Bioinformatics, Mathematical Modelling and Synthetic Biology Lab, University of Pavia), Dr. Viviana Giannuzzi (Gianni Benzi Pharmacological Research Foundation).

The lecture is focused on the application of innovative methodologies that can facilitate the approval of new drugs for the treatment of inherited neurometabolic disorders in the vulnerable population, since the onset of this class of diseases is usually during childhood, which makes clinical trials even more problematic to perform.

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  • Neurological Aspects in MPSs”, Maurizio Scarpa, MD PhD (Brains for Brain Foundation, Centre for Rare Diseases, Dept. For Pediatrics and Adolescent Medicine Horst Schmidt Kliniken, Wiesbaden.

The lecture is focused on the neurological manifestation of the mucopolysaccharidoses (MPS). MPS are a heterogeneous family of inborn metabolic conditions caused by the deficiency of one of the enzymes responsible for the degradation of complex molecules namely the glycosaminoglycans (also known as mucopolysaccharides). Such deficiency results in an  excessive and widespread accumulation of mucopolysaccharides.  Accumulation begins in infancy and progressively worsens, often affecting several organs, including the central nervous system (CNS). Affected neurons may die through apoptosis or necrosis, although neuronal loss usually does not occur before advanced stages of the disease. CNS pathology typically causes mental retardation, progressive neurodegeneration and premature death. In the last years knowledge about the pathology and clinical course of MPS has been rapidly increased and enormous progress has been made in the treatment of many MPS types. Early diagnosis and early treatment are crucially helpful to the patients.

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  • Metabolic causes of epileptic encephalopathy”, Ljerka Cvitanovic – Sojat (University of Zagreb, School of Medicine, Croatia).
  • The lecture is focused on epileptic encephalopathy, a brain disturbance due to highly active clinical or electrographic ictal activity, and to the main inherited metabolic diseases associated with this neurological manifestation. Main clinical features of the various epilepsy phenotypes and their occurrence in the different metabolic disorders will be discussed, with particular attention to the biochemistry, salient electrophysiological and neuroradiological findings, and primary treatment options. The lecture aims to favour an early diagnosis leading to better treatment and to avoid catastrophic outcomes.

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