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355 results for "angelman syndrome"
Despite one drug failing trials this week, researchers say multiple other experimental treatments for Angelman syndrome are advancing with real hope for families. Scientists believe genetic medicines could soon restore communication and cognitive abilities in patients with this rare developmental condition.
Twenty-three years ago, Michelle Sie Whitten was told her daughter with Down syndrome would likely die young. Today, Sophia is thriving, and her mom is fighting to give families accurate information about the diagnosis.
The U.S. House of Representatives unanimously approved the DeOndra Dixon INCLUDE Project Act, making permanent the first NIH-wide research program dedicated to Down syndrome. The bipartisan legislation honors DeOndra Dixon's legacy and promises to advance discoveries benefiting millions.
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.
Breezy White just became the first person with Down syndrome to graduate from Georgia Highlands College and earn a college degree in Georgia. Her journey from childhood dream to 4.0 GPA student shows what's possible when opportunity meets determination.
A century after his birth, scientist Jérôme Lejeune's breakthrough discovery of Down syndrome's cause now powers a global network helping over 13,000 patients. The foundation bearing his name has become one of the world's leading research centers for genetic intellectual disabilities.
Families across Europe now have access to DAYBU, the first approved treatment for Rett syndrome, a devastating neurological condition that mainly affects young girls. The drug will reach patients in all 27 EU countries plus Iceland, Liechtenstein, and Norway starting in 2026.
A middle schooler designed a onesie for infants with Down syndrome after watching her brother struggle with regular clothes. Her invention won top prize at Coweta County's Innovation Expo, where 60+ student teams pitched products to solve real problems.
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.
Families affected by Hunter syndrome now have hope as the FDA approves Avlayah, the first treatment designed to replace a missing enzyme that causes dangerous sugar buildup in the brain. This breakthrough marks a major victory for patients with this rare genetic disease.
Researchers discovered that different mutations in Rett syndrome require different treatments, opening the door to personalized medicine for children with this developmental disorder. Using advanced brain tissue models, they successfully tested mutation-specific therapies that could help thousands of patients.
The FDA just approved Denali Therapeutics' new medicine for Hunter syndrome, bringing fresh hope to families affected by this rare genetic disease. The approval comes as a welcome surprise after the agency recently toughened its standards for rare disease treatments.
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.
Media entrepreneur Chude Jideonwo is breaking silence about living with Tourette syndrome after his doctor warned him not to speak publicly about it. His courage is helping change how neurological conditions are viewed across Africa.
Families dealing with Hunter syndrome just gained a powerful new treatment option after the FDA granted accelerated approval to Denali Therapeutics' groundbreaking drug. The decision marks a turning point for rare disease patients after a year of tougher regulatory outcomes.
Scientists at Texas Children's Hospital discovered a promising way to treat Rett syndrome, a rare disorder that affects 1 in 10,000 girls and currently has no cure. The breakthrough could help 65% of patients by boosting levels of a partially working protein in their brains.
Scientists at Texas Children's Hospital discovered a promising way to treat Rett syndrome, a rare disorder affecting 1 in 10,000 girls. The breakthrough could help 65% of patients by boosting levels of a partially working protein in their brains.
Scientists at MIT have discovered what causes leaky blood vessels in children with Rett syndrome and found a way to repair them. The breakthrough points toward potential treatments for a devastating disorder that affects thousands of young girls.
Scientists discovered that calming an overactive immune pathway in the brain reduces seizures in mice with Dravet syndrome, a severe form of childhood epilepsy. The breakthrough could lead to new treatments for the one-third of epilepsy patients who don't respond to current medications.
Scientists at MIT discovered why brain blood vessels become leaky in children with Rett syndrome and found a way to potentially fix it. The breakthrough traces the problem to a single overactive molecule that weakens blood vessel walls.
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