Google says it has made a significant step in identifying disease-causing genes, which could help spot rare genetic disorders.
A new model named AlphaMissense is able to confidently classify 89 per cent of all possible “missense” variants in genes, identifying whether they are likely to cause diseases or benign. That compares with just 0.1 per cent of all missense variants that have been confidently classified by human experts.
Missense variants happen when a single letter is substituted in the DNA, which in turn leads to proteins with a different amino acid. That small change can have significant effects – Google likened it to the way that changing a letter in one word can change the meaning of the whole sentence.
The new AlphaMissense looked at existing information about missense variants, and how commonly they are seen in humans and closely-related primates. It looked for those that were rarely seen, classifying them as pathogenic, and from that was able to use that information to analyse other protein sequences – giving not just a verdict on whether they were likely to cause problems, but also how confident it was.
Experiments, conducted by humans, which look to find those mutations are expensive and slow: they require people to examine each unique protein and designed separately. Google says that the new system means that researchers can “preview” those results for thousands of proteins at a time, helping them decide where to focus.
The company has used its systems to release a vast catalogue of “missense” mutations, so that researchers can learn about what effect they have. In some cases, those variations can lead to conditions such as cystic fibrosis, sickle-cell anaemia, or cancer, and understanding them could be key to researchers studying ways to treat or prevent those diseases.
It is just the latest health breakthrough from Google’s Deepmind division, which is looking to use artificial intelligence to both identify and treat a variety of conditions. The new system was built on AlphaFold, the breakthrough model that helped unfold proteins, the building blocks of life.
News
Nanomedicine in 2026: Experts Predict the Year Ahead
Progress in nanomedicine is almost as fast as the science is small. Over the last year, we've seen an abundance of headlines covering medical R&D at the nanoscale: polymer-coated nanoparticles targeting ovarian cancer, Albumin recruiting nanoparticles for [...]
Lipid nanoparticles could unlock access for millions of autoimmune patients
Capstan Therapeutics scientists demonstrate that lipid nanoparticles can engineer CAR T cells within the body without laboratory cell manufacturing and ex vivo expansion. The method using targeted lipid nanoparticles (tLNPs) is designed to deliver [...]
The Brain’s Strange Way of Computing Could Explain Consciousness
Consciousness may emerge not from code, but from the way living brains physically compute. Discussions about consciousness often stall between two deeply rooted viewpoints. One is computational functionalism, which holds that cognition can be [...]
First breathing ‘lung-on-chip’ developed using genetically identical cells
Researchers at the Francis Crick Institute and AlveoliX have developed the first human lung-on-chip model using stem cells taken from only one person. These chips simulate breathing motions and lung disease in an individual, [...]
Cell Membranes May Act Like Tiny Power Generators
Living cells may generate electricity through the natural motion of their membranes. These fast electrical signals could play a role in how cells communicate and sense their surroundings. Scientists have proposed a new theoretical [...]
This Viral RNA Structure Could Lead to a Universal Antiviral Drug
Researchers identify a shared RNA-protein interaction that could lead to broad-spectrum antiviral treatments for enteroviruses. A new study from the University of Maryland, Baltimore County (UMBC), published in Nature Communications, explains how enteroviruses begin reproducing [...]
New study suggests a way to rejuvenate the immune system
Stimulating the liver to produce some of the signals of the thymus can reverse age-related declines in T-cell populations and enhance response to vaccination. As people age, their immune system function declines. T cell [...]
Nerve Damage Can Disrupt Immunity Across the Entire Body
A single nerve injury can quietly reshape the immune system across the entire body. Preclinical research from McGill University suggests that nerve injuries may lead to long-lasting changes in the immune system, and these [...]
Fake Science Is Growing Faster Than Legitimate Research, New Study Warns
New research reveals organized networks linking paper mills, intermediaries, and compromised academic journals Organized scientific fraud is becoming increasingly common, ranging from fabricated research to the buying and selling of authorship and citations, according [...]
Scientists Unlock a New Way to Hear the Brain’s Hidden Language
Scientists can finally hear the brain’s quietest messages—unlocking the hidden code behind how neurons think, decide, and remember. Scientists have created a new protein that can capture the incoming chemical signals received by brain [...]
Does being infected or vaccinated first influence COVID-19 immunity?
A new study analyzing the immune response to COVID-19 in a Catalan cohort of health workers sheds light on an important question: does it matter whether a person was first infected or first vaccinated? [...]
We May Never Know if AI Is Conscious, Says Cambridge Philosopher
As claims about conscious AI grow louder, a Cambridge philosopher argues that we lack the evidence to know whether machines can truly be conscious, let alone morally significant. A philosopher at the University of [...]
AI Helped Scientists Stop a Virus With One Tiny Change
Using AI, researchers identified one tiny molecular interaction that viruses need to infect cells. Disrupting it stopped the virus before infection could begin. Washington State University scientists have uncovered a method to interfere with a key [...]
Deadly Hospital Fungus May Finally Have a Weakness
A deadly, drug-resistant hospital fungus may finally have a weakness—and scientists think they’ve found it. Researchers have identified a genetic process that could open the door to new treatments for a dangerous fungal infection [...]
Fever-Proof Bird Flu Variant Could Fuel the Next Pandemic
Bird flu viruses present a significant risk to humans because they can continue replicating at temperatures higher than a typical fever. Fever is one of the body’s main tools for slowing or stopping viral [...]
What could the future of nanoscience look like?
Society has a lot to thank for nanoscience. From improved health monitoring to reducing the size of electronics, scientists’ ability to delve deeper and better understand chemistry at the nanoscale has opened up numerous [...]
