The Deep View: AI and rare diseases

Posted on November 25, 2025 by michelleclarke2015
Researchers reveal AI for discovering rare diseases
AI is getting better at scientific discovery. 
On Monday, a group of researchers from the Centre for Genomic Regulation in Barcelona unveiled an AI model capable of discovering previously unknown human genetic mutations that are linked to diseases, outperforming Google DeepMind’s AlphaMissense in some areas. The model could help medical professionals better understand and treat rare diseases. 
The model, called popEVE, was built in partnership with Harvard Medical School and examines the evolutionary diversity of genetic sequences for hundreds of thousands of animal species for genetic mutations to gauge whether certain ones might have negative effects. 
PopEVE was tested on 31,000 families that have kids with developmental disorders. In more than 500 cases where the kids had genetic mutations, the model was able to pick out that genetic mutation as damaging 98% of the time. 
This model is the latest example of researchers using AI to rapidly advance science. Google in particular has long been involved in AI for science, developing models for cancer cell research, protein structure prediction and genetic mutation research. OpenAI and Microsoft also have initiatives dedicated to applying AI models to scientific research. 
However, these models might not be ready to take the lead in the lab just yet. OpenAI published research last week detailing its experiments with scientists using GPT-5. The findings showed that while this tech proved useful in helping researchers “expand the surface area of exploration and help researchers move faster toward correct results,” the model isn’t capable of performing experiments or solving scientific problems autonomously.
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About michelleclarke2015

Life event that changes all: Horse riding accident in Zimbabwe in 1993, a fractured skull et al including bipolar anxiety, chronic fatigue …. co-morbidities (Nietzche 'He who has the reason why can deal with any how' details my health history from 1993 to date). 17th 2017 August operation for breast cancer (no indications just an appointment came from BreastCheck through the Post). Trinity College Dublin Business Economics and Social Studies (but no degree) 1997-2003; UCD 1997/1998 night classes) essays, projects, writings. Trinity Horizon Programme 1997/98 (Centre for Women Studies Trinity College Dublin/St. Patrick's Foundation (Professor McKeon) EU Horizon funded: research study of 15 women (I was one of this group and it became the cornerstone of my journey to now 2017) over 9 mth period diagnosed with depression and their reintegration into society, with special emphasis on work, arts, further education; Notes from time at Trinity Horizon Project 1997/98; Articles written for Irishhealth.com 2003/2004; St Patricks Foundation monthly lecture notes for a specific period in time; Selection of Poetry including poems written by people I know; Quotations 1998-2017; other writings mainly with theme of social justice under the heading Citizen Journalism Ireland. Letters written to friends about life in Zimbabwe; Family history including Michael Comyn KC, my grandfather, my grandmother's family, the O'Donnellan ffrench Blake-Forsters; Moral wrong: An acrimonious divorce but the real injustice was the Catholic Church granting an annulment – you can read it and make your own judgment, I have mine. Topics I have written about include annual Brain Awareness week, Mashonaland Irish Associataion in Zimbabwe, Suicide (a life sentence to those left behind); Nostalgia: Tara Hill, Co. Meath.
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