This week the Minister of Health, Welfare and Sport recognized 38 expertise centres for rare diseases within Amsterdam UMC of which 14 are part of our AII institute. This recognition is important to be able to cooperate nationally and internationally to improve treatment and research.
"For patients with a rare disease, this also makes it clear where they can turn," says physician-researcher and project officer Eline Eskes. She is part of the team that coordinated the application for these recognitions (through the NFU umbrella organisation of university medical centres) at the Ministry on behalf of Amsterdam UMC.
Seven thousand rare diseases
Diseases are rare if they occur in less than 1 in 2,000 people. As many as 6,000 to 7,000 different diseases are involved. In total, one million Dutch people have a rare disorder. One of those diseases is the hereditary Niemann-Pick metabolic disease, which Eskes himself is researching. "In total, we now see 25 Dutch patients at Amsterdam UMC," says Eskes. "One or two more are added each year. One of the problems is recognising such a disease. But once a patient has been diagnosed, it is important that care and research are organised as centrally as possible. The recognition of specialised centres is an important support in this."
Within the 38 expertise centres recognised within Amsterdam UMC, a multitude of rare diseases are treated. During the recognition process, attention was also paid to the overlap between existing centres. Several centres have now been merged. Eskes: "The Amsterdam UMC Centre of Expertise for Hereditary Metabolic Diseases, for example, combines five existing expertise centres. In this way, expertise can be better streamlined and shared internationally."
In advising the Minister on the recognition of centres of expertise, a committee of the Dutch Federation of University Medical Centres (NFU) looked at the quality of care, research activities, cooperation in the area of guidelines for diagnostics and care, and national and international partnerships. The accredited centres seek affiliation with European Reference Networks (ERN) for rare diseases. For example, the GUARD-HEART network led by Amsterdam UMC cardiologist Professor Arthur Wilde bundles knowledge on rare heart diseases. Eskes: "In 2017, the European member states started to form these ERNs. Amsterdam UMC already participates in a large number of these networks. Only by working together can we gather enough information to really advance the treatment and research around all these patients with a rare disease."
The 218 expertise centres now recognised nationally by the Minister almost all fall under one of the eight university medical centres. "The centralisation of this special care is pre-eminently an academic task," says Eskes. "Patients with a rare condition know that they will receive the best possible care in a recognised centre, even collaborating internationally to improve diagnostics and treatment."
Amsterdam UMC rare diseases team:
- Prof. Dr. Carla Hollak, internist for hereditary metabolic diseases
- Kees Goverde, Strategy & Innovation advisor
- Dr. Petra Zwijnenburg, paediatrician-clinical geneticist
- Eline Eskes, physician researcher on inherited metabolic diseases