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
Scientists Begin $14.2 Million Project To Decode the Body’s “Hidden Sixth Sense”
An NIH-supported initiative seeks to unravel how the nervous system tracks and regulates the body’s internal organs. How does your brain recognize when it’s time to take a breath, when your blood pressure has [...]
Scientists Discover a New Form of Ice That Shouldn’t Exist
Researchers at the European XFEL and DESY are investigating unusual forms of ice that can exist at room temperature when subjected to extreme pressure. Ice comes in many forms, even when made of nothing but water [...]
Nobel-winning, tiny ‘sponge crystals’ with an astonishing amount of inner space
The 2025 Nobel Prize in chemistry was awarded to Richard Robson, Susumu Kitagawa and Omar Yaghi on Oct. 8, 2025, for the development of metal-organic frameworks, or MOFs, which are tunable crystal structures with extremely [...]
Harnessing Green-Synthesized Nanoparticles for Water Purification
A new review reveals how plant- and microbe-derived nanoparticles can power next-gen water disinfection, delivering cleaner, safer water without the environmental cost of traditional treatments. A recent review published in Nanomaterials highlights the potential of green-synthesized nanomaterials (GSNMs) in [...]
Brainstem damage found to be behind long-lasting effects of severe Covid-19
Damage to the brainstem - the brain's 'control center' - is behind long-lasting physical and psychiatric effects of severe Covid-19 infection, a study suggests. Using ultra-high-resolution scanners that can see the living brain in [...]
CT scan changes over one year predict outcomes in fibrotic lung disease
Researchers at National Jewish Health have shown that subtle increases in lung scarring, detected by an artificial intelligence-based tool on CT scans taken one year apart, are associated with disease progression and survival in [...]
AI Spots Hidden Signs of Disease Before Symptoms Appear
Researchers suggest that examining the inner workings of cells more closely could help physicians detect diseases earlier and more accurately match patients with effective therapies. Researchers at McGill University have created an artificial intelligence tool capable of uncovering [...]
Breakthrough Blood Test Detects Head and Neck Cancer up to 10 Years Before Symptoms
Mass General Brigham’s HPV-DeepSeek test enables much earlier cancer detection through a blood sample, creating a new opportunity for screening HPV-related head and neck cancers. Human papillomavirus (HPV) is responsible for about 70% of [...]
Study of 86 chikungunya outbreaks reveals unpredictability in size and severity
The symptoms come on quickly—acute fever, followed by debilitating joint pain that can last for months. Though rarely fatal, the chikungunya virus, a mosquito-borne illness, can be particularly severe for high-risk individuals, including newborns and older [...]
Tiny Fat Messengers May Link Obesity to Alzheimer’s Plaque Buildup
Summary: A groundbreaking study reveals how obesity may drive Alzheimer’s disease through tiny messengers called extracellular vesicles released from fat tissue. These vesicles carry lipids that alter how quickly amyloid-β plaques form, a hallmark of [...]
Ozone exposure weakens lung function and reshapes the oral microbiome
Scientists reveal that short-term ozone inhalation doesn’t just harm the lungs; it reshapes the microbes in your mouth, with men facing the greatest risks. Ozone is a toxic environmental pollutant with wide-ranging effects on [...]
New study reveals molecular basis of Long COVID brain fog
Even though many years have passed since the start of the COVID-19 pandemic, the effects of infection with SARS-CoV-2 are not completely understood. This is especially true for Long COVID, a chronic condition that [...]
Scientists make huge Parkinson’s breakthrough as they discover ‘protein trigger’
Scientists have, for the first time, directly visualised the protein clusters in the brain believed to trigger Parkinson's disease, bringing them one step closer to potential treatments. Parkinson's is a progressive incurable neurological disorder [...]
Alpha amino acids’ stability may explain their role as early life’s protein building blocks
A new study from the Hebrew University of Jerusalem published in the Proceedings of the National Academy of Sciences sheds light on one of life's greatest mysteries: why biology is based on a very specific set [...]
3D bioprinting advances enable creation of artificial blood vessels with layered structures
To explore possible treatments for various diseases, either animal models or human cell cultures are usually used first; however, animal models do not always mimic human diseases well, and cultures are far removed [...]
Drinking less water daily spikes your stress hormone
Researchers discovered that people who don’t drink enough water react with sharper cortisol spikes during stressful events, explaining why poor hydration is tied to long-term health risks. A recent study in the Journal of Applied [...]
