ABSTRACT
In this chapter Dr Olivier Menzel, president and founder of BLACKSWAN Foundation, shares his personal experience and commitment on rare and orphan diseases from a research and community point of view while Dr Silvia Panigone, Board Member of BLACK-SWAN Foundation, describes her passion and commitment from a business and investment point of view. Rare diseases are not seen as a field for priority action by the medical community. Poor characterisation of the natural cause, pathologies and low numbers of cases make diagnosis difficult, often resulting in a real ordeal for patients and their families, who find themselves on a seemingly endless trek from one consultant to another. An enormous effort is expended by national alliances and patient organisations in looking for grants, evidencing the lack of public and private financial support made available for research, a problem that the BLACKSWAN Foundation wishes to redress.
