A unique mission
The Foundation promotes the accurate diagnosis and care of patients affected by a rare disease. To achieve this, the Foundation develops and delivers tailored solutions in training and education in rare diseases. These are conditions for which there are few continuing medical education options, and most centres are unable to gain expertise as patient numbers are very small.
Who is the Foundation for?
The foundation facilitates the organisation of independent training and education in rare diseases; organised by healthcare professionals for healthcare professionals. It does this by:
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Providing up-to-date training on when to suspect a rare disease, diagnostics, clinical presentation, best care and current treatment strategies in order to improve rare disease recognition and management in the medical setting
- Sharing experience in the management and outcome of rare diseases where individual experience is by their nature limited
- Improving dialogue between different medical specialities, particularly in multi-system diseases
- Strengthening scientific collaboration and encouraging research in rare diseases
Improving patient outcome
30 million people in the EU (1 in 17) have a rare disease
25–30 million people in the USA have a rare disease
7,000–8,000 is the number of different rare diseases, which span all areas of medicine, and which collectively have a major public health, economic and social impact.
The rarity of patients and the high phenotypic heterogeneity of rare diseases, combined with the lack of knowledge, information and training result in frequent delays in correct diagnosis and installation of appropriate care and treatment. Teaching courses focusing on rare diseases are very sparse.
Junior doctors and scientists attending the foundation learn from the experience of renowned international experts and discuss cases that were previously a mystery to healthcare professionals entering the field. As a consequence they are more able to care for their patients with rare disorders.
In the more specialist and advanced courses, the sharing of information and experience improves recognition of rare conditions and ultimately improves the management and outcome of patients.
Advanced educational courses run by specialist institutions
The Foundation courses are run by specialised institutions and university clinics with long-standing experience in research, diagnosis and treatment of rare diseases. There are usually four to five courses a year. An application for CME accreditation is submitted for every course. In addition, the Foundation provides a portal for a series of e-learning modules.
Since 2000, course participants have attended from across the globe and have come from a range of specialities including: metabolic specialists, paediatricians, hepatologists, neurologists, movement disorder specialists, neonatologists and biochemists.