AI May Boost Diagnosis of Rare Genetic Disorders
Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes.
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Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes.
The knowledge-driven MARRVEL AI-based model (AIM) to identify Mendelian illnesses.
Investigators at Baylor College of Medicine developed a new AI system called AI-MARRVEL (AIM) that helps doctors diagnose rare genetic diseases more quickly and accurately. The research was published in the journal NEJM AI.
A recent study conducted in the lab of Dr. Hugo J. Bellen, distinguished service professor at Baylor College of Medicine and principal investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, has discovered a biological role of a specific transmembrane protein called TMEM208.
Telehealth and other online applications can enhance care for vulnerable patients in Western NC, but only if they have access and knowledge.