Artificial Intelligence (AI) Aids in Prompt Diagnosis of Rare Diseases

Accuracy of artificial intelligence in prompt diagnosis of rare diseases in critically ill patients is demonstrated by benchmark genome study.

Accuracy of artificial intelligence in prompt diagnosis of rare diseases in critically ill patients is demonstrated by a benchmark genome study “Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases”, at the Rady Children's Institute For Genomic Medicine®, as published in the journal Genome Medicine.

It was shown that more than 90% of disease-causing variants in infants with rare diseases were detectable using the Fabric GEM AI algorithm and whole-genome and whole-exome data across six leading genomic centers and hospitals examined.

"Depression-causing" Gene Spots Located by Genome-wide Association Studies
Genetic factors influencing the onset of depression in humans were detected by the largest ever genome-wide association study.

‘Accuracy of artificial intelligence (AI) in prompt diagnosis of rare diseases in critically ill patients is demonstrated by Benchmark genome study. ’

Reliability of AI

The whole-exome data was extracted from previously diagnosed newborns and rare disease patients at the Rady Children’s Hospital-San Diego and other clinical sites.

“Fast and definitive genetic diagnosis is essential to providing the right treatment in a timely manner for critically ill newborns. Fabric GEM has successfully demonstrated that it can automatically and quickly suggest a very short list of candidate genes for interpretation through whole-genome or whole-exome sequencing,” says Stephen Kingsmore, MD, DSc, a co-author of the study and the President and CEO of Rady Children's Institute for Genomic Medicine.

Epigenome Helps Prevent, Diagnose and Treat Cancer
Analyzing DNA and defining future challenges can help yield the next step-changes for cancer patients, say researchers.

In addition, the study also demonstrated the use of Clinithink’s CLiX focus, a natural language processing (NLP) technology applied to medical notes recorded in electronic medical records.

Hence, this study highlights that AI may successfully help reduce the burden of a genetic variant of diseases and assist clinicians in the ultimate diagnosis of each case, especially in scenarios where time is of the essence.

Patent Law can Stop Unethical Human-Genome Editing
Patent law could create an ethical thicket around human genome editing, as it has great potential. The World Health Organization (WHO) says that countries should develop their own regulations and follow them strictly.

Source-Medindia

Engineered �Mini� CRISPR Genome Editing System Developed
An engineered mini version of CRISPR genome editing system has been developed by researchers. CRISPR can be as simple as a cutter, or more advanced as a regulator, an editor.