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13 results for "genetic condition"
UK regulators just approved olezarsen, the first treatment in years for familial chylomicronemia syndrome, a rare genetic condition that can cause life-threatening pancreatic inflammation. Clinical trials showed patients reduced dangerous fat levels by a third while experiencing fewer emergency attacks.
Researchers at Harvard Medical School have developed a breakthrough gene-editing method that successfully silences the extra chromosome causing Down syndrome in up to 40% of lab cells. While still early stage, this proof-of-concept study opens the door to the first genuine treatment for one of the most common genetic conditions.
An emergency physician discovered his son had a rare genetic condition, transforming both his approach to medicine and his understanding of empathy. Dr. Joseph D'Orazio now says raising Gabe made him a better doctor and taught him what patients truly need.
A super-fit New Zealand teacher developed life-threatening heart disease despite running 10km daily and eating well, revealing how genetics can silently kill thousands. His story is pushing doctors to demand access to breakthrough drugs that could save lives.
A Louisiana man with lifelong sickle cell disease received groundbreaking gene therapy that eliminated his symptoms and opened the door to his dream career as a pilot. His story represents hope for thousands living with this painful genetic condition.
A groundbreaking treatment could help children with Dravet syndrome not just reduce seizures, but actually improve cognitive development and daily living skills. For the first time, families facing this devastating genetic condition have hope for a disease-modifying therapy.
Around 20 people in England with a debilitating genetic condition can now access the first treatment that targets the root cause of their disease. The NHS will provide pegzilarginase to patients with arginase-1 deficiency after breakthrough approval.
Scientists just diagnosed a rare genetic condition in a mother and daughter who lived over 12,000 years ago, proving that communities cared for vulnerable members even during the Ice Age. The discovery marks the earliest genetic diagnosis ever made in human history.
A Wellington baby may be the only person on Earth with his specific genetic condition, but his parents' determination and medical breakthroughs are giving him a fighting chance. One year after his diagnosis, Archie Eaton is finally gaining weight and reaching new milestones.
Over 100 scientists used Google DeepMind's new AI tool to hunt for diagnoses for 29 families living with mysterious genetic conditions. The technology can decode the 98% of human DNA that doesn't make proteins, opening new hope for 350 million people with undiagnosed rare diseases.
Google DeepMind just unveiled AlphaGenome, an AI that predicts how the 98% of "dark matter" DNA in our bodies affects health and disease. This breakthrough could help scientists design better treatments for genetic conditions that have puzzled researchers for decades.
A foundation leader living with sickle cell disease is championing a plan to teach students about the genetic condition before they start families. The comic strip education model has already shown success in pilot programs across Ghana.
British tennis player Francesca Jones, who was told she'd never play professionally due to a rare genetic condition, achieved direct entry into the Australian Open main draw for the first time after a career-changing 2024 season. The 25-year-old went from considering retirement to climbing back inside the world's top 75.