Local 'Butterfly Syndrome' survivor works to aid those with rare genetic disorder

Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...
Armed robbery in Revesby

Genetic Cause of Leaky Brain Vessels in Rett Found

MIT researchers have discovered that two common genetic mutations that cause Rett syndrome each set off a molecular chain of events that compromises the structural integrity of developing brain blood ...

High-altitude survival gene may help reverse nerve damage

A genetic mutation that helps animals like yaks and Tibetan antelopes survive at high altitudes may hold the key to repairing ...

Jesse Jackson’s misdiagnosis of Parkinson’s is common – new genetic discovery could lead to treatment for this deadly disease

People typically die from progressive supranuclear palsy within 7 to 10 years. There is currently no specialized treatment or effective screening for this neurodegenerative disease.

Colorectal Cancer Isn’t Always Lifestyle: How Family History and Genes Raise Risk

Colorectal cancer is often linked to lifestyle, but inherited gene mutations can also raise risk. Hereditary conditions like Lynch syndrome and familial adenomatous polyposis (FAP) can lead to ...

Experimental Drug Shows Promise For Children With Dravet Syndrome or Genetic Epilepsy

Marijuana extract shown to cut life-threatening seizures in half for children with severe epilepsy. A landmark clinical trial has revealed that a drug derived from medical marijuana can significantly ...
C&EN

FDA says it wants individualized medicines. Can we get there?

The drug was finally approved in September 2025 through the FDA’s accelerated approval pathway, based on improvement in knee extensor muscle strength, for adults and children with Barth syndrome who ...
Fierce Biotech

FDA details rationale for rejecting rare disease gene therapy from Regenxbio

RGX-121 was rejected in early February, with Regenxbio listing the primary reasons given by the FDA as concerns about the ability to properly define a patient population, the use of a natural history ...

PROFESSOR ROB GALLOWAY: I've spent my career helping others. Now I'm asking for YOUR help for my joyful little girl and thousands like her with rare genetic conditions

The day we discovered that our then 15-month-old baby was one of just 200 people in the world with a genetic brain condition will be for ever etched on my mind.

Acadia Pharmaceuticals Announces Plan to Request Re-Examination Following Negative CHMP Opinion for Trofinetide for the Treatment of Rett Syndrome

Acadia Pharmaceuticals Inc. (Nasdaq: ACAD) today announced that the Committee for Medicinal Products for Human Use (CHMP) of ...
Medical Xpress

What is a 'cancer gene'? How genetic mutations lead to cancer

An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, ...
Braidwood Times

'Huge encouragement': two families united by a shared medical struggle

Twelve-year-old Canberra girl Ashley Clifford and her family thought she was one of only two children in Australia with the very rare Beck-Fahrner syndrome. Your essential national news digest: all ...