Diseases Network News Today

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.

An international collaborative study led by postdoctoral scientist, Dr. Maimuna Paul, and child neurologist, Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the Cain Pediatric Neurology Research Foundation Laboratories at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, and an investigator at the McNair Medical Institute with The Robert and Janice McNair Foundation, recently discovered that variants in the ...

A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder.

DOT1L is an evolutionarily conserved gene found in a broad range of species from yeast to man.

<p>A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the <a href="file:///C:/Users/rxnatara/AppData/Local/Microsoft/Windows/INetCache/Content.Outlook/DJZEC7Z1/nri.texaschildrens.org">Jan and Dan Duncan Neurological Research Institute</a> (Duncan NRI) at Texas Children’s Hospital, has discovered that gain-of-function variants in the <...

Dr. Isaac Kohane explores AI's rapid medical evolution and the challenges of accuracy, updating, and education in infectious diseases at IDWeek 2023.