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    An·gel·man syn·drome
    /ˈānjəlmən ˌsinˌdrōm/

    noun

    • 1. a congenital condition characterized especially by intellectual disability and uncoordinated movement, typically resulting from loss of function of a gene present on the copy of chromosome 15 inherited from the mother.
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  3. May 14, 2024 · Angelman syndrome—named for Harry Angelman, the doctor who first investigated the symptomsoccurs in only one in every 15,000 live births, according to the Angelman Syndrome Foundation. For the Gurzicks, it occurred in the birth of only one of their two twin sons, (9). The ‘Happy’ Syndrome.

  4. 2 days ago · DENVER — Treatment with a novel therapeutic led to clinically significant improvement in cognition for young persons with Angelman syndrome, Kemi Olugemo, MD, FAAN, said in this Healio video at ...

  5. 6 days ago · Ionis’ Angelman syndrome program, ION582, has just shared positive preliminary results from the Phase 1/2a HALOS clinical trial. Ionis will be providing an update at the upcoming Angelman Syndrome Foundation meeting in July. Read the community letter. See the full press release.

  6. 1 day ago · Newly announced topline data from the phase 1/2 HALOS trial (NCT05127226) showed that treatment with investigational ION582 (Ionis Pharmaceuticals) was safe and well tolerated in patients with Angelman syndrome, with robust improvements in outcomes of cognition, motor function, and communication. The company is expecting to report additional ...

  7. Apr 30, 2024 · International Angelman Day 2024 Round-Up. Your receipt will be emailed here. It's okay for FAST to contact me in the future. Searching for a foundation for Angelman syndrome? FAST is here to advance groundbreaking efforts in Angelman syndrome cure research.

  8. 6 days ago · Angelman syndrome is caused by a loss of function in the maternal UBE3A gene. ION582 is designed to unsilence the paternal UBE3A allele in order to increase production of the UBE3A protein in the brain. It presents as profound and severe developmental delays in motor, language, and cognitive functioning, seizures, and ataxia.

  9. May 14, 2024 · Angelman syndrome begins at birth and although symptoms vary, most children exhibit common developmental delays such as: • Infants showing an inability to support their head. • Unable to pull themselves up to stand. • An inability to crawl. • Various feeding issues.

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