New blood test screens for thousands of rare inherited diseases at once

ST. PAUL, Minn., May 25 (UPI) — A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current inefficient detection methods, according to a study to be presented Monday. The new test developed by Australian scientists has proven highly accurate in … Read more

Baby’s Rare Metabolic Disease Cured with CRISPR

Archyde: Latest World News, Economy, Entertainment, Health, Technology & Sports Updates “`html Personalized Gene Therapy: A New Era for Rare Diseases Personalized Gene Therapy: A New Era for Rare Diseases Imagine a future where genetic diseases,once considered incurable,can be precisely targeted and treated with therapies tailored to an individual’s unique genetic makeup. This future is … Read more

Neonatal Genomic Screening: Revolutionizing Rare Disease Detection

Is Spain on the cusp of a pediatric medical revolution? This article explores how Spain is positioned to lead the way in genomic neonatal screening, potentially transforming early disease detection and care for newborns. Discover the benefits of this new approach and learn why Spain’s advancements in pediatric medicine are poised to make a critically … Read more

New NHS treatment offers hope for children with Lennox–Gastaut syndrome

image: ©koto_feja | iStock A new treatment option has become available for severe epilepsy: fenfluramine, which is now available on the NHS for children and adults living with Lennox–Gastaut syndrome (LGS) The drug, which has been approved by the National Institute for Health and Care Excellence (NICE), is expected to significantly reduce seizures and help … Read more

Rural Communities at Risk: Global Liver Institute Champions

Washington, D.C., Feb. 01, 2025 (GLOBE NEWSWIRE) — As rural healthcare access shrinks across the United States and remains limited worldwide, Global Liver Institute (GLI) is shining a spotlight on the critical need for awareness and education about rare liver diseases during Rare Liver Diseases Month. Through its annual #RareAware campaign, the patient advocacy organization … Read more

Rare Liver Diseases: Addressing Access and Awareness in Rural Areas

Rare Liver Diseases: A Crucial Conversation for Rural Health Washington, D.C., Feb. 1, 2025 (GLOBE NEWSWIRE) — As rural healthcare access dwindles across the United States and remains… The post Rare Liver Diseases: Addressing Access and Awareness in Rural Areas appeared first on NewsyList. Source link

Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer after WGS when short-read sequencing is performed. Now, a group of researchers present data that suggests that long-read sequencing may be the better … Read more