01965nas a2200157   4500008004100000022001400041245015200055210006900207260001600276520129100292100003001583700002001613700002401633700002001657856013001677       2022                        eng d  a1460-208300aDiscovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling.0 aDiscovering potential interactions between rare diseases and COV  c2022 Jan 123 a<p>Recent studies have demonstrated a relevant role of the host genetics in the COVID-19 prognosis. Most of the 7000 rare diseases described to date have a genetic component, typically highly penetrant. However, this vast spectrum of genetic variability remains yet unexplored with respect to possible interactions with COVID-19. Here, a mathematical mechanistic model of the COVID-19 molecular disease mechanism has been used to detect potential interactions between rare disease genes and the COVID-19 infection process and downstream consequences. Out of the 2518 disease genes analyzed, causative of 3854 rare diseases, a total of 254 genes have a direct effect on the COVID-19 molecular disease mechanism and 207 have an indirect effect revealed by a significant strong correlation. This remarkable potential of interaction occurs for more than 300 rare diseases. Mechanistic modeling of COVID-19 disease map has allowed a holistic systematic analysis of the potential interactions between the loss of function in known rare disease genes and the pathological consequences of COVID-19 infection. The results identify links between disease genes and COVID-19 hallmarks and demonstrate the usefulness of the proposed approach for future preventive measures in some rare diseases.</p>1 aLópez-Sánchez, Macarena1 aLoucera, Carlos1 aPeña-Chilet, Maria1 aDopazo, Joaquin  uhttp://clinbioinfosspa.es/content/discovering-potential-interactions-between-rare-diseases-and-covid-19-combining-mechanistic