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Diagnosing rare genetic conditions within minutes

Written by DS on in the category Insights with the tags , , .


Moon is a new software package that, within minutes, diagnoses patients who suffer from rare diseases. All the software requires are the patient’s symptoms and sequencing data. Moon then applies artificial intelligence to find the causal mutation. This software is the first of its kind on the market. Moon is developed by the Leuven-based company Diploid. We had a conversation with Peter Schols, CEO and founder of the company.

Many people who suffer from rare diseases struggle for years before they receive a correct diagnosis. While the individual rare diseases have small patient populations, 350 million people globally suffer from one of the many rare disorders. Taken together, this is more than the combined number of AIDS and cancer patients. A correct diagnosis is necessary in order to give the patient appropriate treatment. Diploid specializes in diagnosing rare diseases based on genome data.

Schols: I founded the company in 2014 out of my passion for both software development and genetics. Diploid is focused on helping hospitals and commercial labs to provide a diagnosis for rare genetic conditions. We go from the raw genetic data to a diagnosis, signed by an MD, in about seven days. Compared to a regular medical setting, where this process takes several months, this is very fast. Now, with our revolutionary software package Moon, we take it even further. Within mere minutes, Moon autonomously diagnoses rare diseases. The unique combination of our in-house skills, such as human genetics, software development, artificial intelligence and design, made it possible for us to create Moon.

 My father died from a rare genetic condition, but it wasn’t diagnosed before he died. For me, that underscored the importance of having strong diagnostics.
 

Faster than geneticists

Schols: “After input of the patient’s symptoms, age, gender and sequencing data (WES or WGS), Moon comes up with a diagnosis within minutes, using proprietary artificial intelligence algorithms. In 90% of patients who were previously diagnosed by a geneticist, Moon comes up with the correct diagnosis. In 97% of these cases, the disease-causing variant is in the top three of Moon’s list of candidate variants. In addition, Moon has even managed to reach a diagnosis for patients who remained undiagnosed after manual interpretation.”

Watch how Moon works in this video:
 

 

“Moon has been tested by the University of Antwerp (UZA) in Belgium and by the National Institutes of Health (NIH) in Bethesda, USA. Overall, the diagnostic yield is on par with the work of an expert geneticist while the processing time is significantly shorter. To the best of our knowledge, we are the only company worldwide providing software that is able to do this. Our software is like a self-driving car.”

The software was able to find previously identified mutations in a really efficient and fast way. More importantly, Moon came up with a solution in a case where a probably causative mutation was missed by our regular analysis. That was amazing! - Prof. Dr. Fabio Rueda Faucz, Staff Scientist, NIH / NICHD, Bethesda, MD, USA
 

A matter of life or death

Schols: “The genome contains a wealth of information that could be of tremendous help in treating or even preventing a whole range of diseases. However, the downside currently is that genome analysis generally takes a long time. Since Moon allows us to analyze sequencing data so quickly, it can be useful in emergency care units. For an infant who suffers from rare genetic disease, a quick diagnosis can be the difference between life and death.

“Another advantage is that Moon can operate fully unsupervised and is always up to date with the latest genetic discoveries. Now, 50% of the patients who go to genetic centers remain undiagnosed. Their data gets archived, and the case remains unsolved. However, science is advancing every day, and a genetic defect that is unknown today might be diagnosable tomorrow. Moon allows for fast and affordable re-analysis of sequencing data from undiagnosed patients on a monthly or even weekly basis.”

Partnering up

Schols: “Moon is targeted at large genome centers and nationwide genome programs. Since Moon offers significant cost savings per case, these clients will benefit most from the software’s automation. In addition, Diploid will also focus on companies developing software and hardware for genome analysis.

“We envision partnering with an established bioinformatics company that will be able to embed Moon into its existing variant analysis software to add intelligence to its current diagnostic processes. In this way, we want to make Moon available to geneticists worldwide, allowing them to easily diagnose patients.”

About Diploid
Diploid was founded in 2014 and aims to revolutionize healthcare by bringing genome diagnostics into daily clinical practice. The company focuses on genome analysis for rare disease diagnostics and preventative screenings. Diploid combines expertise in human genetics, software development, artificial intelligence and design.

Read more about: , , .

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