Cyrielle Kint is CSO at Diploid, a Leuven-based start-up company active in the field of human genome interpretation for rare disease diagnostics.
At Diploid, she is involved in both providing a genome interpretation service to labs and hospitals worldwide, and in supporting the development of Moon, a software platform for automated rare disease diagnostics based on artificial intelligence.
Cyrielle obtained a Master degree and PhD in Cell and Gene biotechnology at the faculty of Bioscience engineering of the KULeuven.
MEET CYRIELLE KINT AT #KFG2018
Cyrielle Kint will give a presentation in the session "CONNECT with Innovative Products":
"Moon: Using AI for automated rare disease diagnostics"
Rare diseases affect 350 million people worldwide and typically have a huge impact on the quality of life. While individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined. About 80% of these diseases are caused by genetic factors and an estimated 50% of rare disease patients are children.
In the US, it takes on average 7.6 years to come to a correct rare disease diagnosis. Patients often receive 2 to 3 wrong diagnoses before the correct one, and the majority of patients actually remains undiagnosed.
A key reason for this slow diagnostic process is that genome interpretation still is a highly manual proces. A geneticist would manually review thousands of variants, trying to find the one causal variant, similar to searching for the needle in a haystack. This manual approach does not scale in an era of personalised medicine. Also, with recent advances in sequencing and bioinformatics, clinical genome interpretation has become the new bottleneck.
Moon brings speed and scalability to the genome interpretation process. It’s the first software to apply AI to the domain of rare disease diagnostics. As a result, Moon can go from NGS data to pinpointing the causal variant in less than 5 minutes for whole genome data. Moon’s speed does not only save a lot of time and money, it also saves lives: Moon has recently proven its utility in the NICU at Rady Children’s Hospital (US), where it was used to set the new world record for fastest genome diagnosis (https://goo.gl/7TDrQD).
In addition to providing fast diagnostics, Moon allows for regular reanalysis of samples from yet undiagnosed patients. Unfortunately, most centers don’t have the resources to keep analysing negative cases even though new correlations between genes and disorders are published every day. Moon changes this: as the software works fully autonomously, it can reanalyse older, negative cases in the background, only notifying the geneticists when new information becomes available that might lead to a diagnosis. That way, hospitals can reanalyse thousands of cases with minimal labor, providing a perspective to undiagnosed patients.