The rare disease experts map


Our commitment to improving the diagnostic odyssey for those affected by rare diseases goes beyond our diagnostic applications, with our data driven series we hope to raise awareness and understanding.

Today, on the occasion of Rare Disease Day we have decided to give visibility to the international rare diseases researchers who have devoted their work to research in this amazing field. To elaborate the map and we have used the data we have just incorporated into our knowledge base.

The rare diseases specialists map

Here you can find all the current rare disease researchers geolocated by the institution they are currently working based on orpha.net public data.

If you find the information provided overhelming, you can use our rare diseases expert directory to find the right researcher for your current disease. All the data provided in the map has been extracted from it.


Going further. Rare diseases researchers by country

Researchers by country: Map version

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Researchers by country: Complete table

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Rare disease specialists by disease

One of the big questions is which is the current rare disease with the highest number of researchers working on it. Here you will find the top ten, and of course the complete list.

Top ten rare diseases by research efforts

  1. AMYOTROPHIC LATERAL SCLEROSIS
  2. HUNTINGTON DISEASE
  3. DUCHENNE MUSCULAR DYSTROPHY
  4. MALARIA
  5. LEUKEMIA ACUTE MYELOID; AML
  6. LEUKEMIA ACUTE LYMPHOBLASTIC; ALL
  7. HEREDITARY SPASTIC PARAPLEGIA
  8. FRONTOTEMPORAL DEMENTIA
  9. AUTOSOMAL DOMINANT CEREBELLAR ATAXIA
  10. MULTIPLE MYELOMA

Complete list of rare diseases by number of researchers


Mapping rare diseases, what is next?

If you are in the rare disease field, you now that finding the right information at the right time is one of the keys to arrive at the right diagnosis. That is why we made our directory of professionals searchable by disease. If you like, you can try the tool for free, and of course, if you have any suggestions about how to improve it, we are more than willing to hearing from you.




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Empowering doctors in rare disease diagnosis

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