Each of the 8000+ known Rare Diseases (RDs) affect a small number of people, however their cumulative impact is estimated to affect 263-446 million people globally. One of the main challenges for RDs is related to diagnosis because they are characterised by a broad diversity of syndromic disorders and symptoms that vary from patient to patient suffering from the same disease. In isolation, these symptoms can be very common, leading to misdiagnosis. Altogether, this leads to a lengthy and burdensome path to diagnosis that takes 7.3 years (US average), often involving pointless treatments, creating a heavy human and societal burden that could be avoided by earlier diagnosis. Rare disease diagnosis, and therefore optimal treatment and management, is difficult and requires great level of expertise. Facilitating this process with data-based tools could increase the diagnostic yield and its efficiency. Accurately defined and computable patient symptoms (deep phenotypes) can pave the way towards this goal, however, they are difficult and time consuming to create. Dx29 is a collaborative RD diagnosis support platform for physicians and families to create detailed deep phenotypes and to suggest RDs based on this data. Additionally, it can analyse genetic variants associated to the patient phenotype. Retrospective tests show a 79% disease suggestion accuracy (top-3 suggestion) on a cohort of 120 previously diagnosed patients with whole exome sequencing and a 40% disease suggestion accuracy based only on patient phenotypes (442 patients with >10 symptoms) diagnostic. Dx29 is a non-for-profit initiative, free to use and open-source.

Short Bio: Pablo Botas is the CEO and CSO of Foundation 29 of February and leads the development of Dx29. He obtained his PhD in physics from Heidelberg University, developing his research in proton radiotherapy at the Massachusetts General Hospital. He has strong expertise in scientific computation, bioinformatics and artificial intelligence, fields that he has applied to proton radiotherapy for complex cases and moving anatomies and rare disease prediction via phenotypic and variant analysis leveraging ontological and patient population knowledge. His current focus in Foundation 29 is to empower rare disease patients to gain control of their health data in order to foster more agile research. Rare diseases, due to their low prevalence and their need of precision medicine, are the niche most in need of solutions.