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Jamie Capal

articles and announcements

Categories: Brain Development

Jamie Capal
October 10, 2022

Recruitment and Deep Phenotyping of Infants with Angelman Syndrome to Enable Early Treatment

$199,000 Several promising treatments are being developed for Angelman syndrome (AS), with the goal of restoring function of UBE3A. Therapies administered early in life are expected to be most beneficial, but AS is often not diagnosed until 1-4 years of […]

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Adam Hantman
October 10, 2022

Pilot Study to Understand Skilled Motor Impairments in Angelman Syndrome

$200,000 Motor deficits are common and debilitating, but not well-understood, symptoms of Angelman syndrome. AS results from the loss of the UBE3A gene. The development and study of animal models of AS that lack the same gene has advanced our […]

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Dr. Ype Elgersma
January 15, 2020

To what extent are striatal deficits underlying clinical features of Angelman syndrome?

It remains unclear which brain areas (and hence which cellular changes) directly contribute to phenotypes of AS. Knowledge of the critically affected brain areas is important for two reasons: 1) it will help us to identify the most relevant mechanisms […]

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Dr. Ype Elgersma
December 22, 2019

An inducible mouse model for Angelman Syndrome: Follow up

$92,144 – 1-year With previous support from the ASF, Dr. Elgersma engineered a UBE3A- inducible mouse in which the UBE3A gene (responsible for causing AS) is non-functional when the mouse is born.  However, by a medication injection at any desired […]

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December 21, 2019

Pathophysiology in a human stem cell model of Angelman syndrome

$120,000 – 2-years The discovery of genomic reprogramming of human skin cells into induced pluripotent stem cells (iPSCs) provides a novel way to model human diseases with complex genetics. By reprogramming skin cells obtained from patient samples, cell lines can […]

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December 21, 2019

Rett Syndrome Disorders and Angelman Syndrome as Genetic Models of Autism Spectrum Disorders

$25,000 –  RDCRN Training Grant This investigator will use selective phenotype study techniques to study children 3-10 years of age with AS, Rett syndrome ( RTT), and MeCP2 duplications, as genetic models of autism spectrum disorder (ASD).  It is hoped that 15 individuals […]

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The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.

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