{"id":832,"date":"2020-06-10T13:06:52","date_gmt":"2020-06-10T07:36:52","guid":{"rendered":"http:\/\/www.potentialloops.org\/?p=832"},"modified":"2020-06-10T13:06:54","modified_gmt":"2020-06-10T07:36:54","slug":"new-identification-of-genetic-basis-of-covid-19-susceptibility-will-aid-treatment","status":"publish","type":"post","link":"https:\/\/www.potentialloops.org\/?p=832","title":{"rendered":"New identification of genetic basis of COVID-19 susceptibility will aid treatment"},"content":{"rendered":"\n

Date: June 6, 2020 <\/p>\n\n\n\n

Source 1: European Society of Human Genetics <\/p>\n\n\n\n

Source 2: www.sciencedaily.com<\/a><\/p>\n\n\n\n

Summary: Italian researchers have been able to identify the genetic basis of susceptibility to Covid-19 infection, and also to the possibility of contracting a more severe form of the disease. This has important implications for treatment and drug development. <\/p>\n\n\n\n

The clinical presentation of Covid-19 varies \nfrom patient to patient and understanding individual genetic \nsusceptibility to the disease is therefore vital to prognosis, \nprevention, and the development of new treatments. For the first time, \nItalian scientists have been able to identify the genetic and molecular \nbasis of this susceptibility to infection as well as to the possibility \nof contracting a more severe form of the disease. The research will be \npresented to the 53rd annual conference of the European Society of Human\n Genetics, being held entirely on-line due to the Covid-19 pandemic, \ntoday [Saturday].<\/p>\n\n\n\n

Professor Alessandra Renieri, Director of the Medical Genetics Unit \nat the University Hospital of Siena, Italy, will describe her team’s \nGEN-COVID project to collect genomic samples from Covid patients across \nthe whole of Italy in order to try to identify the genetic bases of the \nhigh level of clinical variability they showed. Using whole exome \nsequencing (WES) to study the first data from 130 Covid patients from \nSiena and other Tuscan institutions, they were able to uncover a number \nof common susceptibility genes that were linked to a favourable or \nunfavourable outcome of infection. “We believe that variations in these \ngenes may determine disease progression,” says Prof Renieri. “To our \nknowledge, this is the first report on the results of WES in Covid-19.”<\/p>\n\n\n\n

Searching for common genes in affected patients against a control \ngroup did not give statistically significant results with the exception \nof a few genes. So the researchers decided to treat each patient as an \nindependent case, following the example of autism spectrum disorder. “In\n this way we were able to identify for each patient an average of three \npathogenic (disease-causing) mutations involved in susceptibility to \nCovid infection,” says Prof Renieri. “This result was not unexpected, \nsince we already knew from studies of twins that Covid-19 has a strong \ngenetic basis.”<\/p>\n\n\n\n

Although presentation of Covid is different in each individual, this \ndoes not rule out the possibility of the same treatment being effective \nin many cases. “The model we are proposing includes common genes and our\n results point to some of them. For example, ACE2 remains one of the \nmajor targets. All our Covid patients have an intact ACE2 protein, and \nthe biological pathway involving this gene remains a major focus for \ndrug development,” says Prof Renieri. ACE2 is an enzyme attached to the \nouter surface of several organs, including the lungs, that lowers blood \npressure. It serves as an entry point for some coronaviruses, including \nCovid-19.<\/p>\n\n\n\n

These results will have significant implications for health and \nhealthcare policy. Understanding the genetic profile of patients may \nallow the repurposing of existing medicines for specific therapeutic \napproaches against Covid-19 as well as speeding the development of new \nantiviral drugs. Being able to identify patients susceptible to severe \npneumonia and their responsiveness to specific drugs will allow rapid \npublic health treatment interventions. And future research will be \naided, too, by the development of a Covid Biobank accessible to academic\n and industry partners.<\/p>\n\n\n\n

The researchers will now analyze a further 2000 samples from other \nItalian regions, specifically from 35 Italian Hospitals belonging to the\n GEN-COVID project.<\/p>\n\n\n\n

“Our data, although preliminary, are promising, and now we plan to \nvalidate them in a wider population,” says Prof Renieri. “Going beyond \nour specific results, the outcome of our study underlines the need for a\n new method to fully assess the basis of one of the more complex genetic\n traits, with an environmental causation (the virus), but a high rate of\n heritability. We need to develop new mathematical models using \nartificial intelligence in order to be able to understand the complexity\n of this trait, which is derived from a combination of common and rare \ngenetic factors.<\/p>\n\n\n\n

“We have developed this approach in collaboration with the Siena \nArtificial Intelligence Lab, and now intend to compare it with classical\n genome-wide association studies in the context of the Covid-19 Host \nGenetics Initiative, which brings together the human genetics community \nto generate, share, and analyse data to learn the genetic determinants \nof COVID-19 susceptibility, severity, and outcomes. As a research \ncommunity, we need to do everything we can to help public health \ninterventions move forward at this time.”<\/p>\n\n\n\n

Chair of the ESHG conference, Professor Joris Veltman, Dean of the Biosciences Institute at Newcastle University, Newcastle upon Tyne, UK, said: “We are very excited to have this work on the genetics of COVID19 susceptibility presented as one of our late-breaking abstract talks at the ESHG. Our Italian colleagues present the first insight into the role of genetic susceptibility influencing the severity of the response to a COVID19 infection. It needs to be expanded to encompass much larger populations, but it is impressive to see the speed at which research on this virus has proceeded in just a few months’ time.”<\/p>\n\n\n\n

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