18 June 2019

Big data reveals hidden links between diseases

EULAR

What has stroke got to do with diabetes? Are asthma and eczema related? How come a smoking cessation drug seems to work for obesity treatment?

Presenting at EULAR in Madrid last week on the topic ‘The end of medicine as we know it’, Professor Harald Schmidt explained how big data is breaking down traditional ideas about disease.

“It all started with a seminal paper from the Barabási Lab and he did what he called the diseasome,” said Professor Schmidt, a pharmacologist at Maastricht University in The Netherlands. “It’s basically the network of all human diseases.”

Professor Harald Schmidt

This diseasome, published in PNAS in 2007 (pictured above), linked disorders that had common gene mutations.

If every condition had a separate genetic origin, then there wouldn’t be any links connecting the different diseases.

However, of the 1,200 or so diseases in the network, around 860 had links to other diseases, suggesting that different diseases have common genetic origins.

“And the first astonishing thing was that these [linked] diseases belonged to completely different organs and categories,” said Professor Schmidt.

“So, you might have expected that all cardiovascular diseases or all neurological diseases cluster together but that’s actually not the case.”

Diseasomes have now been extended to more than just genetic data.

Recent disease networks incorporate clinical data, such as whether diseases tend to occur in the same patients, and data on the molecular biology of disease, such as whether two disease have similar protein interactions.

PNAS, 2007

If diseases that were previously thought to be unrelated actually had similar underlying mechanisms, then drugs used for one condition could potentially be repurposed for another, said Professor Schmidt.

The other implication of this research is that the way doctors currently specialise probably doesn’t reflect the true aetiology of diseases.

“So, that means that the first thing that we have to overcome currently in medicine is that we have specialised too much,” said Professor Schmidt.

“There’s not even the cardiologist anymore. There is the left heart specialist, the right heart specialist, the interventional cardiologist.

“And, of course, it’s nice because you are a total expert in a teeny tiny small area.

“But these disease silos that we have created, we have basically lost the overview of the entire patient.

“And apparently the secret to actually understanding diseases lies within getting back the 20,000-foot view again and seeing those connections because there actually lies the answer to the mechanisms.”

Listen to the full interview here:

Top image: Copyright (2007) National Academy of Sciences