Context:
Scientists in the United Kingdom as part of a research project, GenOMICC (Genetics of Mortality in Critical Care), have identified 16 new genetic variants that make a person more susceptible to a severe COVID-19 infection.
Relevance:
GS III- Science and Technology
Dimensions of the Article:
- What is the GenOMICC study?
- How was the GenOMICC study for COVID-19 done?
- What are the key findings?
- How useful are these findings?
What is the GenOMICC study?
- The GenOMICC— reportedly the largest of its kind — is a research study that brings together clinicians and scientists from around the world to find the genetic factors that lead to critical illnesses.
- While millions suffer from infectious diseases every year, even though most cases are mild, some people become extremely unwell and need critical care.
- This may be because of their genes and the GenOMICC project is about identifying them.
- The scientists involved compare the DNA of critically-ill patients with members of the general population. However, ferreting out such differences requires a large number of people and comparing their genetic structures at multiple levels of resolution.
- Since 2015, the GenOMICC has been studying emerging infections such as SARS (severe acute respiratory syndrome), MERS (Middle East respiratory syndrome), flu, sepsis, and other forms of critical illness.
How was the GenOMICC study for COVID-19 done?
- Researchers from the GenOMICC consortium, led by the University of Edinburgh in partnership with Genomics England, sequenced the genomes of 7,491 patients from 224 intensive care units in the United Kingdom.
- Their DNA was compared with 48,400 other people who had not suffered from COVID-19, and that of a further 1,630 people who had experienced mild symptoms.
- Determining the whole genome sequence for all participants in the study allowed the team to create a precise map and identify genetic variation linked to severity of COVID-19.
What are the key findings?
- The team found key differences in 16 genes in ICU patients compared to the DNA of the other groups.
- It also confirmed the involvement of seven other genetic variations already associated with severe COVID-19 discovered in earlier studies by the same team.
- The 16 new genetic variants included some that had a role in blood clotting, immune response and the intensity of inflammation.
- A single gene variant, the team found, disrupted a key messenger molecule in immune system signalling — called interferon alpha-10 — that increased a patient’s risk of severe disease.
- There were variations in genes that control the levels of a central component of blood clotting — known as Factor 8 — that were linked with critical illness in COVID-19.
- This highlights the gene’s key role in the immune system and suggests that treating patients with interferon, which are proteins released by immune cells to defend against viruses, may help manage disease in the early stages.
How useful are these findings?
- Genome association studies have a broad goal of not only correlating genes but also designing remedies.
- The fact that interferons have a role in mediating a severe infection, for example, is already being employed in pharmacological therapy to treat severe COVID.
- The COVIFERON trial evaluated three types of interferon for the treatment of severe COVID but showed no meaningful advantage in reducing disease severity.
- Genomics studies show a link between specific circumstances and genes, but they don’t always explain how the genes control the cascade of chemical events that result in a negative outcome.
- The knowledge of the gene, on the other hand, aids in the development of targeted medications.
- Genes can be modified or silenced using emerging technologies like CRISPR, and this method could be utilised to develop novel medications.
-Source: The Hindu
