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Genetic Mechanisms of Angelman Syndrome
Normal 15 Chromosome
We each have two number 15 chromosomes, one inherited from our mother (M.) and one inherited from our father (P, paternal). The Angelman syndrome gene (UBE3A) is located at chromosome 15, band q12, as depicted. In the brain, the Angelman gene is primarily expressed from the maternally inherited chromosome 15. The diagrams below illustrate the four known genetic mechanisms that cause Angelman syndrome.
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AS Funded Research
The Angelman Syndrome Foundation is the largest non-governmental funder of Angelman syndrome-specific research. It is our hope that these funded researchers, and their collaborators and peers, will bring forth new discoveries that ultimately lead to treatments and a cure.
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Call for Proposals
The ASF conducts biannual calls for research proposals. Submission deadlines for review occur annually on
October 15 and April 15
for one- or two-year grants.
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Throughout the year, the Angelman Syndrome Foundation hosts, participates and receives support from events across the country.
Have an idea, or plan to host a local event in your area? Email
kmurphy@angelman.org
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The ASF has partnered with leading medical and research institutions, to found the Angelman Syndrome Clinics, a medical and psychosocial resource from birth through adulthood. Each clinic has its own unique capabilities that leverage the expertise and specialized care available from each partnering organization.
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Intermountain Primary Children’s Medical Center Salt Lake City, UT
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Intermountain Primary Children’s Medical Center Salt Lake City, UT
This is a new location!
More information coming soon.
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