Network of 57 centers of expertise at Erasmus MC
To achieve our ambition, we have established a strong internal network at Erasmus MC: the Rare Disease Center. This network includes all of our accredited centers of expertise. There is ample room for synergy between the various centers of expertise. Our top specialists are motivated to share their knowledge, experience, treatments, and research results. After all, you can learn from each other. We know more together than we do alone.
Structure of the organization
The Rare Disease Center is led by an executive committee. This committee includes doctors and researchers from our recognized centers of expertise. A team of advisors supports and gives advice to the committee of the rare disease center, as well as all of the centers of expertise involved. They maintain an overview of all the activities that take place at the 57 centers and they actively link these to each other. They share the centers’ best practices and try to bring all the expertise together as best they can.
Creating opportunities
Physicians, researchers, and nurses from all centers of expertise gather together in dedicated meetings. They find it inspiring to continuously work together on improving the quality and accessibility of care for rare diseases. Moreover, opportunities arise when specialists contribute different perspectives. This includes: opportunities to improve care, opportunities to make progress in regards to diagnostics and treatment, and opportunities to enhance knowledge on rare diseases. It is our responsibility to facilitate this.
Similarity between diseases
At the Erasmus MC Rare Disease Center we look for similarities between different rare diseases. Sometimes the treatment given for one disease can also prove effective for another disease. New treatments, such as gene therapy, can also be developed and funded for a number of conditions at once. By looking beyond the boundaries, we can improve our patients’ futures.
Growing into healthy adults
“As a pediatrician, above all, I want children to grow into healthy adults and have a good future. And there is still a lot of work to be done to achieve this. You cannot do it alone, but together we can. Knowledge sharing is where the challenge lies for rare diseases. Although the conditions are very different, their treatment often shows similarities. A good example of this is gene therapy, which has been the subject of much research. It may be possible for gene therapy to have a positive effect on more than one pathological condition. If all the centers of expertise pool their knowledge, we can make great strides in developing new treatments and improving the future for children and adults with rare diseases.”
Prof. Ans van der Ploeg, metabolic pediatrician
Erasmus MC Center of Expertise for Lysosomal and Metabolic Diseases
Accredited by the Ministry of Health, Welfare and Sport
From leprosy to bone marrow failure, from growth disorders to early menopause, from skin disorders to metabolic diseases, rare diseases vary widely. Quite often, however, they are complex, misunderstood, disabling or even life-threatening. Finding a diagnosis can take many years.
Accredited
The Erasmus MC Rare Disease Center is comprised of 57 centers of expertise (2024). Each of our centers is specialized in a different disease area and all are accredited by the Ministry of Health, Welfare and Sport (VWS). A center has to meet a number of criteria to become accredited. These requirements are based on European standards. Accreditations are subject to renewal. Every five years, the accredited centers must demonstrate that they still meet all the accreditation conditions. In addition to our accredited centers of expertise, we also have a number of centers of expertise for rare diseases that have not yet been accredited.
Healthcare, research, and education
All our centers of expertise work in accordance with the three core responsibilities of a university medical center: delivering highly specialized healthcare and education and performing scientific research. To support this, we are engaged in many international collaborations. We are glad to pass on our specialist knowledge and expertise on rare diseases to future physicians through our academic education and training programs.
Scientific research and innovations
All our accredited centers of expertise engage in national and international scientific research initiatives. Research is published and reported to the Dutch government. Study results advance knowledge on how these rare diseases develop and how they can be best treated.
At Erasmus MC, we do our utmost to use research for the purpose of tackling a range of health issues. The results of our scientific studies can be instrumental in finding medical solutions, now and in the future. We view this as our social responsibility.
Fundamental, translational, and clinical research
Our centers of expertise in the field of rare diseases actively conduct fundamental, translational, and clinical research.
This means:
- Fundamental research is research at the molecular, cellular or organ level. Its goal is to understand unknown processes and mechanisms. During this phase of research, it is not yet possible to predict when clear results for the patient will be achieved. For example when the research will enable physicians to provide improved methods for the diagnosis and treatment of rare diseases.
- Translational research is the interface between fundamental and clinical research. It focuses on putting the discoveries made from conducting fundamental research into practice. This can include testing whether a recent discovery can be used to determine a new diagnosis or method of treatment. Researchers and medical specialists work closely together during this intermediate phase. Tissue samples and patient data are used in this phase. Almost 85% of our centers of expertise conduct translational research.
- Finally, clinical research takes place. This is when the results of translational research are applied and tested on a group of patients. We try to connect these trials as much as possible to the patients with rare diseases treated at the Erasmus MC. More than 95% of our centers of expertise conduct clinical research.
Breakthroughs thanks to ‘connecting, inspiring and innovating’
“The number of patients with a rare disease are understandably small. This complicates the research done on these diseases and the treatment of patients. This is why at our Rare Disease Center we believe that it is necessary to join forces: to collaborate with colleagues and learn from each other, to be very creative and inventive. It is only then that we can achieve breakthroughs for these patients. Together we all work towards creating a better future for our patients as reflected in our motto: to connect, to inspire, and to innovate. Because that’s how it really works.
Dr. Gerben Schaaf, Assistant Professor
Pediatrics
Research contributions
Our research groups make important contributions to the diagnosis and treatment of rare diseases. Our accredited and non-accredited centers have published a total of more than 27,000 articles (2011-2024). The results have been cited more than 1 million times. Below are some successful examples of innovative research.
- We first treated patients at our Erasmus MC Center of Expertise for Neuromuscular Diseases with a special protein substance (intravenous immunoglobulin). This treatment has since been adopted worldwide.
- We first identified how stem cells and their environment interact with each other at the Erasmus MC Center of Expertise for Congenital Bone Marrow Failure and Leukemia Predisposition Syndromes. These results may contribute to the treatment of patients with acute myeloid leukemia.
- A gene that causes a rare heart muscle disease in children was discovered at the Erasmus MC Center of Expertise for Inherited Cardiovascular Diseases. This provides opportunities to search for new, targeted treatment methods. In the future, patients can also receive a faster diagnosis.
- Hemophilia patients have been successfully treated with gene therapy (in a trial) at the Erasmus MC Center of Expertise for Rare Bleeding Disorders. The first trials were for patients with hemophilia B, the later trials were for patients with hemophilia A, which is much more common. In 2022-2023, results of these trials led to the approval of gene therapy for hemophilia. Still, further efforts are needed to ensure gene therapy is covered by health insurance so that it can be provided as a standard treatment. It appears that gene therapy can cure hemophilia B and could therefore increase patients’ quality of life.
- Experts are working on gene therapy for Pompe disease, a lysosomal storage disorder, at the Erasmus MC Center of Expertise for Lysosomal and Metabolic Diseases. A research team is conducting a trial where gene therapy will be tested on patients for the first time. This disease has a genetic cause, so the key to curing it most probably lies in the field of genetics.
- An investigation is underway at the Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE) where researchers hope to discover why more boys than girls develop the rare SETD1B-related disorder. They also intend to explore why boys are more severely affected, and what might be responsible for this difference.
The Erasmus MC Center of Expertise for Primary Immunodeficiencies has made an important contribution to a clinical study on the ultra rare disorder APDS. This involved investigating a new revolutionary drug. Erasmus MC was one of the three international centers that initiated this study.
Transition from pediatric to adult care
Erasmus MC places a great deal of emphasis on the transition from pediatric to adult care. The period before and after is referred to as the transition period. Every year, about 1,000 18-year-olds with a rare or chronic disorder make this transition. Of these patients, 60-70% continue to be treated by Erasmus MC and 20-30% receive their follow-up treatment at a hospital in the region. For about 5-10% of our adolescent patients, it is not known where they receive their follow-up treatment.
Young Adult outpatient clinic
Diseases with an onset in childhood are not spontaneously cured when a young person turns 18. When possible, we at Erasmus MC strive to ensure young patients with rare diseases go on to receive the best possible care throughout their lives. For this purpose, we have set up the Young Adult outpatient clinic. At these outpatient clinics, we ensure a smooth transition from the pediatric ward to adult care. We believe it is important for our young adults to continue their treatment with the same treating team they are accustomed to. This means that they will receive consistent, high-quality care.
For young adults with Crohn’s disease and ulcerative colitis, there is the IBD Young Adult outpatient clinic, for instance. A similar consultation hour exists for children with cystic fibrosis. We will also be starting Young Adult consultation hours for metabolic disorders, nephrology, hematology, cardiology, and urology. These specific consultation hours, together with a Young Adult Program, are a joint effort to combine adult care and pediatric care. This has not yet become a standard of care, but if this is favourable to the adolescents, parents, and healthcare professionals involved, we will work towards making this the standard care.
Adolescents are fun!
“I hold a Young Adult consultation hour every two weeks at Erasmus MC’s outpatient clinic for patients aged between 16 and 18. This used to be called the transition outpatient clinic, but the adolescents themselves told us that they didn’t feel that the word ‘transition’ was appropriate. I just love working with adolescents and young adults. They are so much fun. They are separating themselves from their parents, but at the same time they still like having them around. These young adults still have to learn how to deal with having a chronic disease for the rest of their lives. I try to teach them things during their last teenage years when they still fall under pediatrics without pampering them too much. I teach them to stand on their own two feet, to help them face the healthcare system independently without their parents.”
Prof. Hankje Escher, Pediatric Gastroenterologist
Erasmus MC Center of Expertise for Rare IBD and Congenital Diarrheal Disorders
Young Adult Program
When young people with a rare or chronic disease are around 16 years old, we start the Young Adult Program. This program is three years long, or longer if needed. During the program we help and guide young adults to be prepared for the transition to adult care. We start to involve these young adults more and more actively in their own treatment process. They will also be given more responsibility and are supported to become more independent. They will gradually become the contact person for their treatment; this will then no longer be their parents. Furthermore, they will get their own transition coordinator, the Young Adult Coordinator: a person who has been specifically designated for the purpose of responding to any questions they might have. Within the program, we also prepare the parents or caregivers well for the changes to come.
Read more about the Young Adult Program (Dutch information only) on our website.
Young Adults Transition Board
Erasmus MC has a Young Adults Transition Board. The Board consists of 13 adolescents and young adults aged between 14 and 24. Members have a range of disorders which vary in regards to their severity. Their care therefore falls under different specializations and departments. Board members actively contribute their critical thoughts and perspectives. They keep us on our toes. This group of experts by experience helped to set up the Young Adult Program.
