Presentation at Rare Bone Disease Workshop - 24th June 2014

Dr Nicolas Sireau, Co-founder and Chairman

An introduction to

7000

Source: Rare Disease UK

rare diseases of which 80% are very rare

and only 200 have approved treatments

Limited awareness…

Source: Rare Disease UK

…of rare diseases in public and politics, because each rare disease struggles by itself

Problem 1

Lack of funding for rare disease

research

The solution?

Many rare diseases are fundamental

diseases

What is a fundamental disease?

it’s an extreme and rare disease that provides insight into common disease

mechanisms

statins

bisphosphonates

neuroacanthocytosis

progeria

alkaptonuria

What makes fundamental diseases so important?

they prove that rare diseases are important

they can unlock our understanding of common diseases

1 2

Problem 2Lack of

support for patients

The solution?

Capacity building for

patient groups

Problem 3Lack of

commercial interest

The solution?

A non-profit drug

development business