LONDON – A pilot study has shown that whole genome sequencing can pinpoint the genetic causes of rare diseases, even in people who had previously not been given a diagnosis after undergoing sequencing of their protein coding exome.

The sprint of fighting COVID-19 has been in respiratory medicine. For patients who become acutely ill, the short-term danger is in respiratory failure. But increasingly, it seems like the pandemic’s marathon fight may come to be against the neurological symptoms of COVID-19.

LONDON – Researchers have pinpointed a little-studied gene as responsible for doubling the risk of respiratory failure in COVID-19 and shown exactly how it exerts its effect. The gene, leucine zipper transcription factor like 1, is activated by a single base pair change on chromosome 3 that occurs in 60% of people of South Asian ancestry and 15% of people of European ancestry.

Investigators at Northwestern University’s Feinberg School of Medicine have used a new mouse model of Parkinson’s disease to confirm a causal role for mitochondrial dysfunction in Parkinson’s disease. More surprisingly, the same model has called into question previously uncontroversial notions about the motor features that are PD’s most conspicuous feature.

On the last day of this year’s Molecular Targets meeting, an annual joint conference of the American Association for Cancer Research, the National Cancer Institute and the European Organization for the Research and Treatment of Cancer, the final plenary went from molecular to macro in a lively discussion of the biggest roadblock in cancer drug development, and what can be done to improve it.

"My fondest hope is that maybe depression and other mental health disorders may be diagnosed by underlying cause, rather than categorized dualistically," Edward Bullmore, director of the Wolfson Brain Imaging Centre, and head of the Department of Psychiatry at the University of Cambridge, told his audience at the European Congress of Neuropsychopharmacology (ECNP). "I think it's much more aligned with the way that the rest of medicine has been working for some time."

The 2021 Nobel Prize in Physiology or Medicine was awarded Oct. 4 to David Julius and Ardem Patapoutian “for their discoveries of receptors for temperature and touch.”

Low-grade gliomas with mutated isocitrate dehydrogenase-1 (IDH1) produced and secreted higher levels of the cytokine granulocyte colony-stimulating factor (G-CSF) than other glioma types, which improved their antitumor immune response in animal models.

Horseshoe or Rhinopolus bats in Laos carry coronavirus species with a near-identical receptor binding domain to SARS-CoV-2, according to a paper posted on the preprint server Research Square by investigators from the Pasteur Institutes of Paris and Laos.

Trimers of nanobodies, a simpler form of antibody made by some animal species, were effective at preventing and treating COVID-19 in preclinical studies, researchers reported in the Sept. 22, 2021, issue of Nature Communications.