The 10 Biggest Stories in Rare Disease for 2023
Dec 13, 2023 · From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of articles represents the most-read stories on Rare Disease Advisor throughout the year:
Rare Disease News, Perspectives & Resources - Rare Disease …
Rare Disease News is the premier online resource for the latest rare disease news, perspectives and information.
Rare Disease News
6 days ago · Featured News. Summit highlights, announcements, and insights Patients at the Forefront At the 2024 National Organization for Rare Disorders (NORD) Rare Diseases and Orphan Products Breakthrough Summit®, more than 800 attendees – …. Read more.
Advancing rare disease breakthroughs with genomics, AI and …
Feb 28, 2024 · Rare diseases, defined as conditions affecting fewer than 200,000 people, are a significant focus at Mayo Clinic. Annually, Mayo Clinic evaluates thousands of patients grappling with these conditions. In fact, approximately 15% of patients seeking a second opinion or treatment at Mayo Clinic are diagnosed with a rare disease.
The landscape for rare diseases in 2024
Overall, the 2024 Rare Disease Day is marked by both advances and persistent challenges. Urgent attention is needed to prioritise early and precise diagnosis as well as effective treatment of rare diseases via specific policies and funding for research and development.
Gene therapies for rare diseases are under threat. Scientists hope …
Oct 6, 2023 · CRISPR gene therapy shows promise against blood diseases. Strimvelis treats an immune disorder called ADA-SCID, part of a group of conditions known informally as ‘bubble baby’ disorder ...
Rare diseases the next target for mRNA therapies - Nature
May 9, 2021 · Rare diseases the next target for mRNA therapies. The pandemic has revealed the potential of a new technology now being used by Italian scientists to tackle neglected metabolic...
New Mayo Clinic technology helps solve the unsolvable in rare disease ...
Jun 5, 2024 · Mayo Clinic researchers have developed a semiautomated system, known as RENEW, to rapidly re-analyze unresolved rare disease cases.
Hundreds of patients in gene study given rare disease diagnosis - BBC
Hundreds of patients with rare diseases have been given a diagnosis for the first time, thanks to a study which involved analysing their entire genome.
1 Genomic Test Can Diagnose Nearly Any Infection
2 days ago · A genomic test developed at UC San Francisco to rapidly detect almost any kind of pathogen – virus, bacteria, fungus or parasite – has proved successful after a decade of use. The test has the potential to vastly improve care for neurological infections that cause diseases like meningitis and encephalitis, as well as speed up the detection ...