RE: AGM Summary1 Jul 2022 01:36
Re Casanova, hope this helps,
Jean-Laurent Casanova, a geneticist at the Rockefeller University in New York City. He co-leads a consortium called the COVID Human Genetic Effort, which in September 2020 reported7 spotting mutations in people with severe COVID-19 that disable genes involved in a potent antiviral response, called type 1 interferon immunity. (One of the genes in which they found mutations, IFNAR2, which codes for a subunit of an interferon receptor, has also been flagged by multiple GWAS.) The mutations identified by Casanova’s team were rare, but in a follow-up study8, the researchers found that 10% of people with life-threatening COVID-19 produced antibodies that inactivate type 1 interferons — mimicking the effects of the gene mutations. Casanova says his team looked for them only after they identified the genetic mutations, underscoring the power of his approach to point to new lines of research. “Essentially what we’ve cracked is a mechanism of critical COVID-19 pneumonia,” he says.