FAST - Foundation for Angelman Syndrome Therapeutics
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The Global Angelman Syndrome Registry
It is hard to believe that it has been a year since the Global Angelman Syndrome Registry was launched. This project is now the largest ever Angelman syndrome study to date, with over 450 participants, call us greedy but we want more. There are over 7000 people that “like” the Angelman Today Facebook page, we know that we can increase these numbers drastically and we want to take some time to explain to you why you should care and how your participation can shape Angelman syndrome research right now. To borrow from Rare Disease advocate Sharon Terry in her Ted talk, “Researchers don’t share. People told us you can’t herd…
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Angelman Biomarkers and Outcome Measures Alliance and Roche begin patient-centered qualitative research to inform potential outcome measures for Angelman syndrome clinical trials
Nashville, Tenn. (June 22, 2017) – A collaborative group of parent-driven organizations seeking a cure for Angelman syndrome has teamed up with F. Hoffmann-La Roche Ltd, (Roche), one of the world’s largest pharmaceutical and diagnostics companies, in the first phase of a study that will support the design of human clinical trials and treatment development for the disorder. Roche has committed funding to create an Angelman syndrome conceptual model. Roche as a leader in personalized healthcare is taking a patient-centered approach to drug and treatment development. According to Roche, the first phase of the study aims to better understand the impact of Angelman syndrome on patients and their families through interviews with…
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Angelman Research Update – Professor David Segal 2014
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father. Professor Segal…
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What the gala experience means for us
By Karen Hill So my countdown to the 2014 gala is officially underway. Tickets? Check. Hotel? Check. Dress? Well, that usually happens a week before when I have determined I have no more time to lose weight before shopping. I am fortunate that this year will be my third year attending the gala, and it is just under three years since my son Logan (5 del+) was diagnosed. Last year I was lucky enough to win a spot in the much-anticipated Colin Farrell meet and greet. As I stood in line anxiously for Paula to introduce us, waiting and watching the other families, I whispered to my husband, “that’s so…
