Strength in numbers: Because having a rare disease isn’t rare

Rare doesn’t mean insignificant – in fact more people live with a rare disease than with cancer and AIDS combined.

A decade after personal experience prompted her to found Global Genes, Nicole Boice tells Deep Dive that rare diseases need to be a global priority, and why she hopes her own organisation is heading towards obsoletion.

The rare disease community faces multiple challenges, not least the “diagnostic odyssey” and an acute lack of treatments. These issues, explained Nicole, are compounded by a global ignorance around the sheer number of people impacted by one of the 7,000, mostly genetic, conditions.

• Read the article in full in pharmaphorum’s Deep Dive digital magazine