Case Histories
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Case Histories

  • The AISNAF story begins in 2005 with the encounter of the family of a little girl suffering from a neurodegeneration with brain iron accumulation syndrome (NBIA...

  • Dravet syndrome is a rare form of epilepsy associated with impairment of the neurologi-cal development, beginning in the first year of life. The disease progres...

  • Blue cone monochromacy (BCM) is an ultra-rare genetic disease causing mainly blind-ness, reduced acuity of vision and nystagmus. The Italian BCM Association was...

  • The Italian umbrella organization for people living with epilepsy. Twenty-two local organizations focused on epilepsy or epilepsy-associated diseases are gather...

  • Debra Italia onlus is the Italian association focused on epidermolysis bullosa (EB). Debra has been operating in Italy since the early nineties promoting social...

  • Key factors to promote research on rare diseases are achieving critical mass, gathering efforts and avoiding redundancies and dispersion of the available resour...

  • Rare Partners is a non-profit organization supporting the development of innovative ther-apies and diagnostic tools for rare diseases. In order to translate lab...