Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria
Open Access
- 26 January 2021
- journal article
- research article
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 22 (3), 1187
- https://doi.org/10.3390/ijms22031187
Abstract
ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. It includes genetic, biochemical, histopathological, clinical, therapeutic resources and quality of life scores that can be shared among registered researchers and clinicians in order to create a Precision Medicine Ecosystem (PME). The combination of machine learning application to analyse and re-interpret data available in the ApreciseKUre shows the potential direct benefits to achieve patient stratification and the consequent tailoring of care and treatments to a specific subgroup of patients. In this study, we have developed a tool able to investigate the most suitable treatment for AKU patients in accordance with their Quality of Life scores, which indicates changes in health status before/after the assumption of a specific class of drugs. This fact highlights the necessity of development of patient databases for rare diseases, like ApreciseKUre. We believe this is not limited to the study of AKU, but it represents a proof of principle study that could be applied to other rare diseases, allowing data management, analysis, and interpretation.This publication has 27 references indexed in Scilit:
- Oxidative stress and mechanisms of ochronosis in alkaptonuriaFree Radical Biology & Medicine, 2015
- Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in ItalyEuropean Journal of Human Genetics, 2015
- Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuriaJournal of Inherited Metabolic Disease, 2015
- Secondary amyloidosis in an alkaptonuric aortic valveInternational Journal of Cardiology, 2014
- Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric PatientMediators of Inflammation, 2014
- Choice of Valve Prosthesis in a Rare Clinical Condition: Aortic Stenosis due to AlkaptonuriaHeart, Lung and Circulation, 2013
- Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuriaRheumatology, 2013
- Alkaptonuria is a novel human secondary amyloidogenic diseaseBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
- Support-vector networksMachine Learning, 1995
- Comparison of the predicted and observed secondary structure of T4 phage lysozymeBiochimica et Biophysica Acta (BBA) - Protein Structure, 1975