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,
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
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
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
In 1997, Dr. Art Beaudet at Baylor College of Medicine determined that the lack of UBE3A gene expression caused Angelman syndrome (AS). Part of his finding came from looking at individuals with a mutation in the UBE3A gene; wherein, he discovered that a deficiency in UBE3A contributes to the major clinical presentation of AS. As
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.
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
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
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
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.