Blog

FAST Italy: educating the Italian community and contributing to global research

Benedetta Sirtori with son Pier Luigi Today, FAST Italy is proud that their country’s first clinical trial for Angelman syndrome (AS), Roche’s Tangelo trial, is currently enrolling patients for a Phase 1 study! Nearly four years ago, when Benedetta Sirtori’s son Pier Luigi was diagnosed with AS, a treatment was unheard of. At that time,

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FAST Funds Dr. Albert J. Keung’s Creation of Cell Lines and Organoids of Class I Deleted Genes

The past decade has seen the development of exciting therapeutic candidates ranging from antisense oligonucleotides (ASOs) to gene replacement therapies, both aimed at replacing the UBE3A protein that is missing in the neurons of individuals living with Angelman syndrome (AS). However, approximately 70% of individuals with Angelman syndrome also have diminished levels of six to

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FAST Awards Drs. Silverman (UC-Davis) and Duis (Children’s Hospital Colorado) Grant to Study Gait as an Outcome Measure for Angelman Syndrome

Movement disorders affect nearly all individuals with Angelman syndrome (AS), with the most common concerns being spasticity, ataxia (as observed in the majority of ambulatory individuals), tremor, and muscle weakness. Clinically, over time, individuals may develop a crouched gait which can cause a progressive decline in mobility.  Similar motor disorders are observed in Angelman syndrome rodent

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FAST Grant to Dr. Scott Dindot for Translational Research in a Pig Model of Angelman Syndrome

Like humans with Angelman syndrome (AS), mouse models of AS exhibit seizures, impaired cognition, abnormal sleep, and motor-defects; however, the expressivity and penetrance of these phenotypes are strain- and age-dependent and largely less pronounced relative to those observed in individuals with Angelman syndrome. In 2015, FAST and FAST Australia funded Dr. Scott Dindot at Texas

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Interview with FAST UK Chairperson Tom Keogh

How was FAST UK born? “FAST (Foundation for Angelman Syndrome Therapeutics) UK was born after our eldest daughter Amelia was diagnosed with Angelman syndrome just after her first birthday. After the initial shock of the diagnosis, my wife Tam and I started looking around to see what help was available and we came across FAST. 

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August Newsletter

AS & Artificial Intelligence in the News, FAST and Lixte Collaborate to support preclinical study Dr. Jiang seeking participants, Upcoming concert by Joeys Song, IEP Liaison Virginia Spencer accepting applications, An Interview with FAST UK Chairperson Tom Keogh & FAST mask orders Read online

The ORCA (Observer-Reported Communication Ability) outcome measure

In 2018, FAST funded Dr. Bryce Reeve of Duke University to create a novel communication measurement tool as an outcome measure assessment of caregiver observations of a child’s ability for expressive communication in nonverbal patients with complex communication needs like Angelman syndrome (AS).  We are happy to announce that not only was Dr. Reeve successful

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Help create AS cell lines to test new therapeutics for each genotype

HIC number is 2000026262 Angelman syndrome research needs your help!  Volunteers are needed, individuals with Angelman syndrome (AS), aged 5-18 years of age, to donate blood to the Department of Genetics and Neuroscience at the Yale School of Medicine under the direction of Professor Yong-hui Jiang.  Dr. Jiang aims to create a biorepository of human

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FAST Australia – Building Community and Finding a Cure

FAST Australia, one of the first branches of FAST, was founded in 2010 by a group of determined and dedicated parents of children with Angelman syndrome (AS) led by Meagan Cross and Jennifer Kyriacou. In 2008, after months of searching for answers, at 13 months of age Meagan’s second child, Molly was diagnosed with AS.

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