TAG ARCHIVE

POSTS TAGGED AS rare diseases

RNA in My Espresso

May 16, 2023 | | Posted in Newsletter

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

March 2, 2021 | | Posted in Newsletter

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

July 30, 2019 | | Posted in Newsletter

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

June 20, 2017 | | Posted in Newsletter

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

March 22, 2016 | | Posted in Newsletter

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

August 4, 2015 | | Posted in Newsletter

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

May 5, 2014 | | Posted in Newsletter

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