As rare genetic disorder causes her son to regress, Carrboro mom teams up with UNC doctor studying new treatment

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

Chest Pain but No Blockage? Doctors Warn About Hypertrophic Cardiomyopathy

Breathlessness or chest pain doesn’t always indicate blocked arteries. Doctors warn these symptoms may signal Hypertrophic ...
Technology Networks

Fetal Therapy Could Offer a Lifeline for Children With Genetic Disorders

Thanks to advances in imaging and diagnostic technologies, clinicians can now detect many genetic disorders in the womb, ...

Cure Rare Disease and LGMD2L Foundation Announce Multi-Year Partnership to Develop Gene Therapy for Anoctamin 5-Related Disease

Cure Rare Disease (CRD), a non-profit biotechnology organization, today announced a landmark partnership with the LGMD2L Foundation. This collaboration is backed by a generous commitment of $7.65 ...

Eddie Vedder turns solo vulnerability into a powerful plea in Netflix’s ‘Matter of Time’

The first time Eddie Vedder toured without Pearl Jam, he made some glaring mistakes onstage and felt discouraged. A few shows ...
Florida Politics

Senate panel preps bill to delay child separation in questionable abuse case for floor vote

This bill, when enacted, will help our child protective team and DCF … and give parents an opportunity to put on a defense ...
The Manila Times

Living with a Rare Disease: A Pastor’s Journey Finding the Right Care and Treatment for NF1-PN

Did you know neurofibromatosis type 1 with plexiform neurofibromas (NF1-PN) is a rare genetic disorder that can cause tumors ...

'They just wanted a baby brother to play with - now they've got to go through losing him'

Drae Mead-Strong was just 17 weeks old when he was the youngest in the world to be diagnosed with the ultra-rare disorder ...
China Daily

Free genetic screenings benefit expectant mothers

The free package, valued at 4,286 yuan ($622.7), includes genetic screening before pregnancy, prenatal testing, newborn ...
The Manila Times

Ocugen Announces Phase 3 liMeliGhT Enrollment Completion for OCU400, a Novel Modifier Gene Therapy for Broad Retinitis Pigmentosa

Enrollment for liMeliGhT, the first and largest gene therapy registrational trial for broad retinitis pigmentosa (RP) ...
Canadian Medical Association Journal

Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome

Key points A 4-year-old boy presented to our urgent ophthalmology clinic for photophobia and persistent eye rubbing. He had been born at 39 weeks via Cesarean delivery, without complications. Prenatal ...
Investing.com South Africa

uniQure stock plunges 45% on FDA regulatory setback

Investing.com -- uniQure N.V. (NASDAQ:QURE) shares tumbled 45% Monday after the company disclosed that the U.S. Food and Drug Administration rejected its proposed pathway for marketing approval of AMT ...