New genetic knowledge on the causes of severe COVID-19

A proportion of the most severe COVID-19 cases can be explained by genetic defects in the patients' immune system.
29-Sep-2020 1:15 PM EDT, by Aarhus University

Newswise — Worldwide, otherwise healthy adolescents and young people without underlying conditions are sometimes severely affected by COVID-19, with the viral infection in the worst cases quickly becoming life-threatening. But why is this happening?

A world-wide consortium of researchers is determined to investigate this - and they have now made so much progress that Science has just published two scientific articles describing some of their results.

Professor Trine Mogensen from the Department of Biomedicine at Aarhus University is co-author on the two research articles in Science. She conducts research into rare immunodeficiencies that lead to increased susceptibility to viral infections and, together with her research group, participates in the steering committee of the research consortium Covid human genetic effort (covidhge) as the only Danish representativ.

She explains that in the vast majority of people, infection with the COVID-19 causing coronavirus leads to an anti-viral response in which interferon plays a crucial role. Interferon is an importantimmune signaling hormone that slows the division of the virus and prevents it from penetrating the surrounding cells. In the event of a viral infection, the body normally quickly begins producing interferon, and the virus can be brought under control withing a few hours. In popular terms, interferon is our first safeguard against an infection.

"However, if there are defects in the interferon signalling pathways, there is nothing to inhibit the virus dividing, and while the coronavirus usually remains in the cells in the throat, it can in this case also infect other parts of the body such as the lungs, kidneys and perhaps even the brain," explains Trine Mogensen, who also is Medical Specialist at the Department of Infectious Diseases, Aarhus University Hospital, Denmark

Genetic and immunological analyses of blood samples from 650 patients from all over the world with severe COVID-19 show that some of these patients have an inherited immunodeficiency which leads to the anti-viral interferon either not being produced or not working on the body's cells. Blood samples from 1,226 healthy individuals have functioned as a control group - with all of the samples being taken prior to the COVID-19 pandemic.

The researchers have obtained consent to collect blood samples and carry out a genetic analysis from hospitalized and severely ill COVID-19 patients. From the blood samples, the researchers have purified immune cells from the 650 patients and subsequently infected these immune cells with coronavirus, which enabled them to ascertain that the immune system was not properly activated. In addition, a genetic sequencing of DNA from the 650 patients has been carried out, with some of this work being carried out at Aarhus University Hospital.

"Our DNA consists of approximately 20,000 genes, and we have found defects in thirteen different genes. This means that the proteins which the genes encode become defective and therefore cannot perform their role in the immune system. We're already aware of some of these genetic defects from patients affected by severe influenza, but some are new and specific to COVID-19," says Trine Mogensen.

The next task for the international research consortium is to translate - i.e. transfer - the basic immunological findings to the treatment of patients, and the first clinical trials are on the way. Medical doctors will be able to measure whether the patients have autoantibodies in their blood as these are relatively easy to measure, and if they are, they can be filtered from the blood. It will also be possible to screen for the thirteen critical genes identified and in this way have the ability to identify particularly vulnerable individuals. This group will then be able to receive preventative medical treatment and a vaccine once this is available.

"The goal is to prevent the very severe cases of COVID-19 with high mortality rates," summarizes Trine Mogensen, who is optimistic and hopes that the clinical trials will demonstrate positive results - perhaps already within a year.

She does not only base her optimism on the unique international collaboration which exists in the COVID Human Genetic Effort, as the international research consortium is named.

"I've never experienced anything like it before in my field of immunology and infectious diseases. We share knowledge and work together in a very altruistic spirit," she adds. The consortium comprises more than 250 researchers under the overall leadership of Professor Jean-Laurent Casanova from The Rockefeller University in the United States - with the professor also serving as an Honorary Skou professor at Aarhus University since 2019.



Filters close

Showing results

110 of 3837
Newswise: Models show how COVID-19 cuts a neighborhood path
Released: 29-Oct-2020 3:45 PM EDT
Models show how COVID-19 cuts a neighborhood path
University of Washington

A research team led by UC Irvine and the University of Washington has created a new model of how the coronavirus can spread through a community. The model factors in network exposure — whom one interacts with — and demographics to simulate at a more detailed level both where and how quickly the coronavirus could spread through Seattle and 18 other major cities.

Released: 29-Oct-2020 2:55 PM EDT
Lung scans for stroke patients could provide earlier COVID-19 detection
American Heart Association (AHA)

Computed tomography angiogram (CTA) scans may offer fast and early detection of COVID-19 in acute ischemic stroke (AIS) patients, according to new research published today in Stroke, a journal of the American Stroke Association, a division of the American Heart Association.

Released: 29-Oct-2020 2:25 PM EDT
Contrary to the viral rumors on social media, Dr. Fauci did not write a paper on how masks caused mass deaths in the 1918 flu pandemic

Posts are being shared on social media attempting to negate the use of masks as protective devices during the pandemic. These claims are false. Fauci did not blame mask use for any deaths that occurred during the 1918 Spanish flu.

Newswise: How Does the Environment Impact COVID-19?
Released: 29-Oct-2020 2:10 PM EDT
How Does the Environment Impact COVID-19?
Homeland Security's Science And Technology Directorate

S&T NBACC research finds that sunlight is the strongest environmental factor that inactivates COVID-19.

Released: 29-Oct-2020 1:25 PM EDT
The Lancet Healthy Longevity: Residential context important factor in risk of COVID-19 mortality among older adults, Stockholm study suggests

New study of older adults (aged 70 or over) in Stockholm, Sweden, suggests older people living in care homes had higher COVID-19 mortality risk than those living in single houses or apartment buildings.

Released: 29-Oct-2020 1:10 PM EDT
Study measures effectiveness of different face mask materials when coughing
University of Cambridge

A team of researchers have tested everything from t-shirts and socks to jeans and vacuum bags to determine what type of mask material is most effective at trapping the ultrafine particles which may contain viruses such as SARS-CoV-2, the virus which causes COVID-19.

Newswise: Hide and seek: Understanding how COVID-19 evades detection in a human cell
Released: 29-Oct-2020 12:35 PM EDT
Hide and seek: Understanding how COVID-19 evades detection in a human cell
Argonne National Laboratory

Scientists using the Advanced Photon Source have discovered new insights into the ways the SARS-CoV-2 virus camouflages itself inside the human body.

Released: 29-Oct-2020 12:20 PM EDT
Two million lost health coverage, thousands died prematurely in Trump's first 3 years
Physicians For A National Health Program

A new analysis of federal surveys on health insurance coverage concludes that the number of uninsured Americans increased by about 2.3 million between 2016 and 2019.

Released: 29-Oct-2020 12:05 PM EDT
How people would choose who gets scarce COVID-19 treatment
Ohio State University

As COVID-19 cases begin climbing again in the United States, the possibility arises of a grim moral dilemma: Which patients should be prioritized if medical resources are scarce?

Newswise: 247273_web.jpg
Released: 29-Oct-2020 12:00 PM EDT
Escaping the 'Era of Pandemics': experts warn worse crises to come; offer options to reduce risk
The Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services (IPBES)

Future pandemics will emerge more often, spread more rapidly, do more damage to the world economy and kill more people than COVID-19 unless there is a transformative change in the global approach to dealing with infectious diseases, warns a major new report on biodiversity and pandemics by 22 leading experts from around the world.

Showing results

110 of 3837