POSTS TAGGED AS rare diseases

Novel Disease Gene Discovery

AI-MARRVEL — A knowledge-driven AI system for diagnosing Mendelian Disorders
“AI-MARRVEL (AIM), uses a random-forest machine-learning classifier trained on over 3.5 [MORE]

RNA in My Espresso

Computational tool ESPRESSO discovers and quantifies RNA isoforms
“We [at Children’s Hospital of Philadelphia] present ESPRESSO, a computational tool for robust [MORE]

Reaching for the Next generation Gene Therapy

Advancing gene therapy
Two beguiling questions have vexed gene therapy from the beginning: how safe and effective are the vectors, and [MORE]

Machine Diagnosis of Rare Diseases

Genome testing
Days, weeks, months and even years can pass between the observation of a seriously sick child and the identification [MORE]

Automating Rare Genetic Disease Diagnosis

DNA
Computational biologists at Cambridge University and King Abdullah University of Science and Technology have written an algorithm called “PHenomeNET Variant [MORE]

The Genetics Behind Prions

This piece is a touching story about young husband and wife researchers at the Broad Institute working on the genetics [MORE]

21st Century Cures Act

Personalized Medicine
In case you thought you’d never live to see a unanimous vote on anything in Congress, recall HR 6, [MORE]

National Center for Advancing Translational Science at NIH

NCATS Organizational Chart
It might be hard to figure why the NIH needed to add this 27th branch to its table [MORE]