27 Apr AISNAF
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) and Francesca Sofia who...
ScienceCompass
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) and Francesca Sofia who...
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 progresses with a certain degree of...
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 promoted by the mother of two children...
The Italian umbrella organization for people living with epilepsy. Twenty-two local organizations focused on epilepsy or epilepsy-associated diseases are gathered in the FIE confederation. Since 2006, this umbrella organization has...
Debra Italia onlus is the Italian association focused on epidermolysis bullosa (EB). Debra has been operating in Italy since the early nineties promoting social and health care ac-tivities, raising awareness...
Key factors to promote research on rare diseases are achieving critical mass, gathering efforts and avoiding redundancies and dispersion of the available resources. The story of the NBIA Alliance tells...
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 results into drugs and therapies, discovery research...