DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

	Rare Diseases
	The latest rare diseases news from News Medical

	DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype data, and genomic information to improve rare disease identification. Across thousands of cases, the system showed higher diagnostic recall than existing AI tools and clinicians in benchmark testing, while providing traceable reasoning linked to medical evidence.

	Single prenatal exposure to fungicide linked to disease across 20 generations A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations - with inherited health problems worsening many generations after exposure.

			Rising lung cancer in never smokers demands urgent research focus Lung cancer patients who have never smoked make up a significant and growing share of global lung cancer cases, yet remain an understudied group, according to a new review written by UCL (University College London) researchers.

			Engineers develop highly precise gene editor for safer cystic fibrosis treatments Engineers at the University of Pennsylvania and Rice University have refined a technology for editing individual genetic "base pairs" to a new level of precision, opening the door to safer, more reliable therapies for a wide range of genetic diseases, and to potential treatments for some cystic fibrosis patients that may yield better outcomes than existing therapies.

			$8.7 million award supports faster genetic diagnosis of lymphatic diseases A team of researchers led by Columbia University Vagelos College of Physicians and Surgeons has been awarded an up to two-year $8.7 million contract from the Advanced Research Projects Agency for Health (ARPA-H) to create genetic tests to speed the diagnosis of patients born with defects in the lymphatic system.

	Scientists reveal how cells offset harmful genetic mutations Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms.

	TMC proteins found to regulate membrane lipids in the ears Proteins long known to be essential for hearing have been hiding a talent: they also act as gatekeepers that shuffle fatty molecules across cell membranes.

	Study reveals unexpected role of TMC proteins in deafness Proteins long known to be essential for hearing have been hiding a talent: they also act as gatekeepers that shuffle fatty molecules across cell membranes.

	Study reveals insights into how cells coordinate gene compensation response Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms.

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