First three new links.

[2greys]

Three-Drug Therapy for Most Common Genetic Cause of Cystic Fibrosis Found Safe and Effective in 6-11-Year-Olds.

An international, open-label Phase 3 study, co-led by Susanna McColley, MD, from Ann & Robert H. Lurie Children’s Hospital of Chicago, found that a regimen of three drugs (elexacaftor/tezacaftor/ivacaftor) that targets the genetic cause of cystic fibrosis was safe and effective in 6-11-year-olds with at least one copy of F508del mutation in the CFTR gene, which is estimated to represent almost 90 percent of the cystic fibrosis population in the United States.

For children in this age group who have only one copy of F508del mutation – or about 40 percent of patients with cystic fibrosis in the United States – this would be the first treatment that addresses the underlying genetic defect in cystic fibrosis.

This three-drug cystic fibrosis treatment was approved by the FDA in October 2019 for people 12 years and older with at least one copy of F508del mutation. Based on the positive results of this study, the FDA has accepted the application to expand treatment indication to younger children, with a decision expected by June 2021.

luriechildrens.org/en/news-...

-----------------------------------------------------------------

Identifying rare genetic variants that increase risk for lung cancer.

Lung cancer is the leading cause of cancer death in the U.S. for both men and women. While risk for this disease can be influenced by environmental and lifestyle factors like smoking, studies estimate that 18% of lung cancer cases are due to inherited genetic variants. New research led by Baylor College of Medicine investigates how genetic variants contribute to increased risk of lung cancer.

The researchers performed whole exome sequencing on germline (inherited) DNA from eight large-scale datasets, including 1,045 patients with a family history of lung cancer or early-onset cancer. Those groups are more likely to harbor genetic risk variants. The analysis also included 885 control cases.

“We were looking for variants that have a relatively high impact on risk but occur at relatively low frequency,” said Dr. Chris Amos, corresponding author of the study, professor of medicine – epidemiology and population sciences and director of the Institute for Clinical and Translational Research (ICTR) at Baylor. “If a variant occurs at low frequency, you have to look at many different large data sources to validate the variant. These results can be replicated in many different European populations.”

blogs.bcm.edu/2021/03/18/fr...

npj Precision Oncology. Study Paper:

nature.com/articles/s41698-...

------------------------------------------------------------------------

The Lancet: Study finds COVID-19 reinfections are rare, more common for those above age 65.

SARS-CoV-2, the cause of the COVID-19 epidemic, has resulted in over 117 million cases and over 2·6 million deaths worldwide as of March 7, 2021, as estimated by WHO. The presence or absence of protective immunity after infection with, or vaccination against, SARS-CoV-2 will affect transmission of the virus and severity of illness.

The absence of pre-existing immunity to SARS-CoV-2 is thought to be responsible for the rapid spread of the virus globally and for the continuing pandemic. Therefore, greater understanding of the degree of protection against reinfection with SARS-CoV-2 is essential to refine appropriate intervention strategies.

Little is known about protection against SARS-CoV-2 repeat infections but two studies in the UK have found that immunity could last at least 5–6 months after infection.

These data suggest that reinfection with SARS-CoV-2 is rare and occurs in less than 1% of individuals who previously tested positive for SARS-CoV-2. These findings are consistent with several single or small case studies, with only up to six patients, done in the USA, China, South Korea, and India, that found reinfection to occur within 26–142 days after the first infection, supported by genetic evidence and negative PCR test results in between the two infections.

The closely related viruses SARS-CoV and MERS-CoV induced immunity that typically lasted 2–3 years after infection.8

thelancet.com/journals/lanc...