New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it dramatically more common than previous estimates suggested. In collaboration with genetic testing laboratories, academic medical centers, and autism research programs, Mount Sinai researchers analyzed data from nearly 180,000 individuals with autism who underwent genetic testing. The findings underscore the growing importance of expanding access to genetic testing as precision therapies advance toward patients.

In a study published on July 9^th in the open access journal PLOS Medicine, Daniel Stow, Ph.D., an epidemiologist at Queen Mary University of London, UK, and collaborators discovered factors that increase the risk of developing several, long-term, coexisting health conditions among South Asian populations in the United Kingdom. Since nearly 8 percent of the UK’s population has South Asian heritage, these findings lend much needed insights for public health.

A new statistical tool could help researchers and practitioners determine when personalized treatments, educational programs, or recommendations are truly worth the extra cost and complexity, according to a new study. The findings offer a rigorous tool to identify when tailoring interventions is likely to outperform more conventional one-size-fits-all approaches. Personalized interventions are increasingly used in fields such as medicine, education, marketing, economics, and computer science because individuals often respond differently to the same treatment or support. However, personalized interventions are more expensive, often require more data, and can be more difficult to implement than universal interventions. There are very few tools to evaluate and identify scenarios when the added cost and complexity of personalization are justified by meaningful improvements in outcomes. To address this, Zhaoqi Li and Emma Brunskill developed a statistical hypothesis test – the K-fold Personalization Test (KPT) – that analyzes existing datasets to evaluate whether a personalized intervention policy is expected to outperform the best universal intervention. Unlike previous methods, the test accommodates multiple interventions, many individual characteristics, and flexible machine learning models while maintaining rigorous statistical guarantees, including control of false-positive (Type I) error. Across four datasets spanning job training, depression treatment, education, and marketing systems, the authors found that the KPT approach consistently demonstrated broad applicability and outperformed previous statistical methods for evaluating personalization. Li and Brunskill note, however, that the test evaluates personalization only within a user-specified class of decision policies and does not identify the optimal personalized policy itself. Yet even with these limitations, the KPT provides a rigorous and broadly applicable framework for helping researchers and practitioners determine when personalization is likely to deliver meaningful benefits.

Researchers led by Kexin Huang report the development of a general-purpose biomedical artificial intelligence agent that can autonomously perform a range of research tasks. The authors tested their tool in various case studies, where it showed strong performance, and they say their results point “toward a future in which AI agents work alongside human researchers to accelerate biomedical discovery from basic research to translation.” Biomedical research drives discoveries in disease mechanisms, diagnostics, and therapeutics, but increasingly complex workflows, expanding datasets, specialized tools, and a rapidly growing literature make it difficult to fully leverage available knowledge and resources. As a result, valuable data and analytical opportunities often go underused because the demand for expert researchers exceeds the available workforce. This underscores the need for approaches that can scale expertise and accelerate discovery. The development of AI agents offers opportunities to reshape aspects of biomedical research, particularly if such tools could handle a broad range of biomedical tasks.

 

Here, Huang and colleagues introduce Biomni, an AI agent that mines biomedical literature to define comprehensive “action spaces.” The large language model also acts as the planning engine, interpreting a user request and preparing a multi-step series of sub-tasks to satisfy that request. In doing so, Biomni can compose and execute workflows without pre-set templates. The authors tested Biomni against a variety of biomedical benchmarks. They also evaluated how it performed compared to humans across several tasks, finding Biomni consistently matched expert accuracy while requiring substantially less time. They also tested the tool in five case studies ranging from analyzing wearable sensor data to designing laboratory protocols to assist wet-lab researchers. The authors note that while Biomni’s environment spans a wide range of biomedical tools and databases, “the evaluated tasks represent only a subset of the field, and key domains remain unexplored.” Even so, they say, by automating complex workflows, “Biomni enables researchers to redirect their efforts toward creative hypothesis generation, experimental innovation, and cross-disciplinary collaboration.”

 

***Related embargoed news briefing is planned for 11:00 a.m. U.S. ET on Tuesday, July 7, as a Zoom Webinar. Reporters interested in joining the briefing should please pre-register here https://aaas.zoom.us/webinar/register/WN_yEqbHT68TvqMItVMwEGOKg as soon as possible. See Other Information for Journalists section for full briefing information.***

In experiments in which physicians made decisions about treating hypothetical patients, the physicians tended to trust incorrect advice presented as being generated by artificial intelligence (AI), even after given the opportunity to notice that patient recovery data contradicted the recommendations. Aranzazu Vinas of the University of the Basque Country, Spain, and colleagues present these findings in the open-access journal PLOS Digital Health. 

The first two patients with early or asymptomatic Alzheimer’s disease will be screened this week for a novel national clinical trial led by UC San Francisco.  

Despite domination of the cancer research world, mouse models fail to accurately mimic some human diseases, such as estrogen receptor-positive (ER+) breast cancer, which accounts for 70% of breast cancer cases. To address this problem, researchers used a genome editing method to generate rat models covering the most common ER+ breast cancer gene mutations. They found that the rat models closely mimic human disease biology, response to therapy and immune microenvironment.