rare diseases

GeneDx to Partner with Florida’s Sunshine Genetics Network, Launching Nation’s First State-Backed Genomic Newborn Screening Program

October 13, 2025

Florida Institute for Pediatric Rare Diseases and Representative Adam Anderson ushering in a new era of preventative care…

GGenetics

NLRP3 inflammasome and hearing loss: from mechanisms to therapies | Journal of Neuroinflammation

October 5, 2025

Sensorineural hearing loss (SNHL) affects approximately 1.5 billion people globally. Approximately 430 million of these patients require rehabilitation…

GGenetics

Knowing patient’s genetic make-up may change the way medicines are prescribed

October 4, 2025

SINGAPORE – Not all medicines work the same way on every patient, and part of the answer lies…

GGenetics

Acadia Pharmaceuticals drug for rare genetic condition fails late-stage study

September 24, 2025

Adam Feuerstein is a senior writer and biotech columnist, reporting on the crossroads of drug development, business, Wall…

GGenetics

September 14, 2025

The standard treatment is a liver transplant, but this entails a high risk of complications in infants. Thanks…

GGenetics

World's first gene therapy for p47 Chronic Granulomatous Disease developed by UCL and GOSH

August 21, 2025

image: ©UCL UCL and Great Ormond Street Hospital have developed the world’s first gene therapy for p47 Chronic…

GGenetics

Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years | Orphanet Journal of Rare Diseases

August 17, 2025

Literature search and study selection An initial search using the search terms related to the operative technique yielded…

GGenetics

Rare disease patients caught up in overseas research funding cuts

August 6, 2025

Mid-April was a nerve-racking time to arrive on the National Institutes of Health campus outside Washington, D.C. — it…

BBusiness

FDA clears way for Sarepta Therapeutics to use Duchenne drug in some patients

July 29, 2025

Adam Feuerstein is a senior writer and biotech columnist, reporting on the crossroads of drug development, business, Wall…

BBusiness

Sarepta Therapeutics' Elevidys faces 'arduous' path back to market

July 22, 2025

Adam Feuerstein is a senior writer and biotech columnist, reporting on the crossroads of drug development, business, Wall…

MMarkets

Aerospace Ceramics Market Forecast to 2029: Advancing High-Performance Materials

July 22, 2025

BCC Research LLC “Driven by Innovation in Biologics and Expanding Therapeutic Applications, the Global Pharmaceutical Drugs Market Continues…

BBusiness

Sarepta Therapeutics lays off one-third of workforce in drastic cost-cutting move

July 22, 2025

Adam Feuerstein is a senior writer and biotech columnist, reporting on the crossroads of drug development, business, Wall…

GeneDx to Partner with Florida’s Sunshine Genetics Network, Launching Nation’s First State-Backed Genomic Newborn Screening Program

NLRP3 inflammasome and hearing loss: from mechanisms to therapies | Journal of Neuroinflammation

Knowing patient’s genetic make-up may change the way medicines are prescribed

Acadia Pharmaceuticals drug for rare genetic condition fails late-stage study

The genetic answer to rare diseases

World’s first gene therapy for p47 Chronic Granulomatous Disease developed by UCL and GOSH

Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30 years | Orphanet Journal of Rare Diseases

Rare disease patients caught up in overseas research funding cuts

FDA clears way for Sarepta Therapeutics to use Duchenne drug in some patients

Sarepta Therapeutics’ Elevidys faces ‘arduous’ path back to market

Global Pharmaceutical Market Projected to Hit $2.2 Trillion by 2029

Sarepta will stop shipping Elevidys, Duchenne gene therapy