Angelman

An Elmira family’s project to build an accessible playground got a $60,000 boost from winning a national competition. Kate’s Kause was started by Kelly and Jeremy Meissner in honour of their daughter Kate, who has the rare genetic disorder Angelman syndrome. The couple wanted a place where all children can play regardless of limitations.

Two ASF-supported researchers, Ype Elgersma and Ben Philpot, traveled to Trevi, Umbria in Italy to present to the 16th National Congress of the Great Bear (Angelman Syndrome Organization). Please note that this article is written in Italian – click here to learn how to translate webpages.

Scientists have genetically engineered mice whose symptoms closely mimic autism in humans. Though this isn't the first "mouse model" for autism, the mice in this study come closer to mirroring all of the core symptoms of the developmental disorder in humans, said senior study author Matthew Anderson, an assistant professor of neurology and pathology and director of neuropathology at Beth Israel Deaconess Medical Center and Harvard Medical School in Boston

The word 'autism' has unfortunately entered our common lexicon, but few people have heard of Angelman syndrome, a closely linked disorder that is also accompanied by deficits in cognition and language. Autism is frequently diagnosed in individuals with Angelman syndrome.

Actor Colin Farrell recently disclosed that his 7-year-old son James has been diagnosed with Angelman syndrome, a neurological disorder caused by a genetic defect. According to the Angelman Syndrome Foundation, the condition affects 1 in every 15,000 children born in the U.S.

Angelman syndrome (AS) is a rare, neurogenetic condition characterized by severe developmental delay, movement disorder, speech impairment (often with a complete lack of speech) and an unusually happy demeanor. Nearly every individual with AS faces at least two major challenges in their daily life: cognitive or intellectual disability, and movement disorder, usually in the form of ataxic (uncoordinated) gait, unsteadiness, jerky movements or tremors. Seizures are also common, and present a daunting health challenge.

The Mellinger family is overwhelmed by community support for their daughter, Danielle, who has Angelman syndrome. Danielle Mellinger will be turning seven this month, and the family finally has a vehicle they can get her into and out of easily. The 2003 Ford Windstar van was purchased entirely with funds donated from the community, her parents, David and Christie Mellinger, said.

Researchers at the UConn Health Center are hoping to better understand his condition with a breakthrough procedure, which comes as great news to Shippee's family. "It would be nice to have a cure for it," said Jack's mother Melissa Shippee. "If we could figure out a way to totally get rid of the seizures, that's one of the biggest problems and one of the hardest parts." And that's just what Marc Lalande and the UConn Stem Cell Institute hope to do, improve their quality of life. Learn about the creative breakthrough procedure called Induced Pluripotent Stem Cells, which researches hope will help Jack Shippee and others with the rare neurological condition Angelman syndrome.