Over 57,000 people have been tested for COVID-19 in a genetic experiment

Over 57,000 people have been tested for COVID-19 in a genetic experiment ...

Some 16 new genetic mutations associated with severe Covid-19 have been identified, including some related to blood clotting, immune response, and inflammation severity. These findings will serve as a guideline for future actions, opening new areas of research focused on potential new therapies and diagnostics with pinpoint accuracy.

The GenOMICC consortium, led by the University of Edinburgh in partnership with Genomics England, able to make these findings by sequencing the genomes of 7,491 patients from 224 intensive care units in the United Kingdom.

Their DNA was compared to 48,400 other people who had not had Covid-19, participants in Genomics England''s 100,000 Genomes Project, and the number of 1,630 people who had experienced mild Covid.

During identification of the whole genome sequence for all participants in the study, the team squibbed a precise map and identified genetic variation linked to the severity of Covid-19. Among the ICU patients, the team studied 16 genes and examined them as compared to the DNA of the other groups.

Critical Covid-19 is identified by our most recent findings, demonstrating why some people develop life-threatening Covid-19, while others have no symptoms at all. This gives us a deep understanding of the disease process and is a significant step forward in making more effective treatments. It is now true to say that we understand the mechanisms of Covid better than other persistent diseases we treat in intensive care in normal times sepsis, influenza, and other forms of critical illness. Covid-19 is demonstrating the foundations to better address these problems in

Gene variants

Seven additional genetic variations that were already associated with severe Covid-19 in previous studies from the same team have been confirmed.

The findings included that a single gene variation that disrupts a key messenger molecule in immune system signaling called interferon alpha-10 was enough to increase a patient''s risk of severe illness.

This highlight the genes that play a major role in the immune system and suggests that treating patients with interferon proteins released by immune cells to protect against viruses may assist in treating illness in early stages.

Variations in genes that control the levels of a central component of blood clotting known as Factor 8 were linked to critical illness in Covid-19.

This may explain some of the clotting difficulties encountered in severe cases of Covid-19. Factor 8 is the gene that is underlying the most common type of haemophilia.

We need to keep an eye on increasing the number of people who are seriously ill and being hospitalized in line with Covid-19. Through our entire genome sequencing study, we have discovered novel gene therapies that prevent serious illness. These treatments now offer a path to further testing and therapies, assisting the public and the NHS in surviving this epidemic.

Strategically, we were at a point where genomic science is becoming an integral part of the national infrastructure in routine healthcare. It represents a significant improvement in our understanding of how our genetic makeup influences severe illness with Covid-19.All those involved in the study went to great efforts to engage with all individuals in the United Kingdom, including groups that have historically been under-represented in medical studies. The inclusion component of our work has provided significant results for everyone in the country.

Consortium

GenOMICC (Genetics of Susceptibility and Mortality in Critical Care) was founded in 2015 as an open, global consortium of intensive care clinicians devoted to understanding genetic factors that affect outcomes in intensive care from diseases such as SARS, influenza, and sepsis.

The consortium is headed by the University of Edinburgh, and since 2020 it has focused on Covid-19 research in collaboration with Genomics England, the Intensive Care National Audit and Research Centre (ICNARC) and the Queen Mary University of London.These latest findings have been published in Nature.

The first 100,000 genome sequencing project for NHS England was completed in 2018 and paved the way for the creation of a new genomic medicine service, which improved patient care by bringing advanced diagnosis and personalized therapies.

Clinical research has been crucial in our fight against Covid-19, and the UK''s innovation has enabled us to transform our health service and ensure that the NHS is capable of providing world-class care. This research is a significant step forward in improving the impact of Covid-19 on certain individuals, allowing us to take the necessary actions to protect the most vulnerable and save lives.

GenOMICC is funded by DHSC, LifeArc, the Sepsis Research FEAT, the Intensive Care Society, Wellcome, UK Research and Innovation, the Scotlands Chief Scientist Office, the Department of Health and Social Care, and the National Institute for Health Research (NIHR), and is supported by Illumina.

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