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At the core of Farrell's new organization and its mission: the actor's 20-year-old son James, who lives with Angelman Syndrome. "I want the world to be kind to James," Farrell told People in an ...
After initially being diagnosed with cerebral palsy, a doctor who noticed James' outbreaks of laughter diagnosed him with Angelman syndrome at 2 1/2 years old, Farrell told People.
Ultragenyx Pharmaceutical Inc. is an American biopharmaceutical company involved in the research and development of novel products for treatment of rare and ultra-rare genetic diseases for which there are typically no approved treatments and high unmet medical need.
"Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome," read the Angelman Syndrome Foundation website. "People with ...
Diagnostic criteria for the disorder were initially established in 1995 in collaboration with the Angelman syndrome Foundation (US); [26] these criteria underwent revision in 2005. [ 27 ] Seizures are a consequence, as is excessive laughter, [ 28 ] which is a major hindrance to early diagnosis.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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