Passionate about the secret behind genetic diseases, Charlotte Nachtegael, after obtaining a master’s degree in biomedical sciences at UMONS, began a master and then PhD in Bioinformatics on the study of complex genetic disorders at the (IB)² (Interuniversity Institute in Bioinformatics in Brussels) and at the MLG (Machine Learning Group) at ULB.

Her work consisted first to find in the scientific literature combinations of mutations causing complex genetic diseases, gathered in a database (publication currently under review). This enormous biocuration effort encouraged her to focus on text mining techniques to be able to automatically extract this data from the text and make it easily available. She is also using the principle of active learning, directly involving the human expert in the development of the artificial intelligence.

This automatic extraction of data on complex genetic disorders should bring an advantage to the medical and bioinformatic fields, moreover with the increase of genetic data and the related publications on the subject. This data can be used afterwards to study the causes of rare genetic diseases or to develop prediction tools during pregnancy… Additionally, this opens a direct interaction between human and artificial intelligence with the use of active learning, where the human teaches directly to the model. This work should then, we hope, increase the trust towards artificial intelligence.