Valdecilla Health Research Institute (IDIVAL)

Severe combined immunodeficiency due to ADA enzyme deficiency is a rare disease that, without treatment, usually causes death within the first two years of life. These "bubble children" are currently treated with a bone marrow transplant or with injections that aim to restore, to the extent possible, the function of this enzyme. Now, an international team presents the results of a gene therapy administered to 62 children with the disease between 2012 and 2019. The therapy was effective in 95% of cases and did not cause serious complications, according to the authors, whose work is published in the journal NEJM. 

The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi for describing how the immune system is regulated so as not to harm us. His groundbreaking discoveries on peripheral immune tolerance have spurred the development of new treatments for cancer and autoimmune diseases.

A US team has analysed the presence of beta-amyloid deposits – which are linked to Alzheimer's disease – in the post-mortem retinas of four people with covid-19 and found that they were larger than in four people without covid. In complementary experiments, the SARS-CoV-2 spike protein in retinal organoids produced an increase in deposits, while the use of a drug that blocks the virus from binding to neurons reduced their accumulation. The results are published in the journal Science Advances.

If immunisation rates continue to decline over an extended period, measles and even other eradicated diseases—such as rubella and polio—could re-emerge in the United States at endemic levels, according to a new study published today in the journal JAMA.