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The development within rare diseases

Rare diseases are characterized by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient-to-patient living from the same disease.

Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Rare diseases not only affect the person diagnosed – they also impact families, friends, care takers and society as a whole. In the 1980s we could diagnose around 12-24 rare conditions but today this number has grown to over 10 000.

When Immedica met with Prof Marhsall Summar earlier this year, we got the chance to get his view on some of the highly relevant topics within the rare disease space. In this video Prof. Summar summarizes the developments within the area over the past decades. 
 

Transcript of video

What has the development over time looked like within rare diseases?

Rare disease is really starting to coming around as a unique field of medicine that has some distinct differences from other fields. One is just the explosive growth in the field. In the 1980's we could diagnose maybe 12-24 conditions accurately, now we can diagnose over 10,000 conditions. These aren't new diseases we are describing. We are identifying almost seven new diseases every week. When you think about the informatics overload from that, it really throws the classic medical model on its head. Historically, you went to a physician and you expected him to know everything about the condition he was treating you for or diagnosing you for. A surgion was supposed to know where every nerve was, every artery was, beacuase that was expected. In rare disease as a medical field, in rare diseases field in general, that is no longer possible. The growth is so fast that we have become very reliant, and with good reason, on bioinformatcis, new informatics technologies databases and lots of search type engines. One of the biggest growth has been just imply the discovery rate.

The other place that has changed is how do we figure out how to treat a patient with a rare disease. Particularly if it is a disease we just described last week. There is not going to be a large body of published literature about what patients with that disease do, how they behave. We have to start borrowing from diseases we have better developed treatments for. We have what we call look alike treatments. You have similar symptoms, different disease, but we will borrow from that other field. And also we have to start using what I would call adaptive development of clinical treatment protocols, where we start off with what we think will work and do the best we can with that. But being very open to adapting that quickly, crowdsourcing that as much as possible, getting opinions from people from all walks of life treating those patients so that we can improve that.

It is a very exiting field and it has lot of differences from mainstream medicine, but if you acutally look at it, mainstream medicine is heading that way. We are finding more and more common diseases are being split into small groups using either DNA technology or other types of molecular testing. And those groups are about the same size as a lot of our rare disease groups. The techonologies and some of the methods we are using for rare disease are actually going to become used more and more in common medicine.

Very different field, very exciting field, but definitely one that is evolving very quickly.