Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
News
Philanthropists Ryan and Annie Jacob have pledged up to $250,000 to the Foundation for Angelman Syndrome Therapeutics, known as FAST, through a new donation matching program. The Austin, Texas-based couple, who have a son with Angelman syndrome, will match donations up to that amount through FAST’s fundraising initiative,…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…
Health Canada has given the green light for a Phase 1/2 clinical trial to resume enrollment to test the investigational therapy GTX-102 in children and adolescents with Angelman syndrome in Canada. This follows an amendment to the trial’s protocol, submitted by GeneTx Biotherapeutics and Ultragenyx Pharmaceutical, the therapy co-developers, after…
A newly funded research project seeks to create cellular models that can be used to study two of the less common types of genetic abnormalities that cause Angelman syndrome. The project, funded by the Foundation for Angelman Syndrome Therapeutics (FAST), will investigate uniparental disomy (UPD) and imprinting errors…
The Foundation for Angelman Syndrome Therapeutics, known as FAST, will get a high-octane boost when professional racecar driver Cameron Lawrence makes his debut at the upcoming NASCAR Camping World Truck Series. The inaugural event at the Circuit of the Americas will be broadcast live on Saturday, May 22 at…
Children with Angelman syndrome respond to different types of rewards to promote learning, and the preferred type may vary based on the genetic cause, a new study indicates. The study, “Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups,”…
Beginning in July, a global 24-hour emergency and urgent care hotline will be available for provider-to-provider consultations to appropriately manage issues, particularly seizures, related to Angelman syndrome. The free hotline is funded through an Emergency Care Consortium grant provided by the Foundation for Angelman Syndrome Therapeutics (FAST). The…
Two U.S.-based Angelman syndrome (AS) nonprofits have created a working group that aims to further awareness and treatment of the rare genetic disorder through legislative advocacy. The Foundation for Angelman Syndrome Therapeutics, known as FAST, and the Angelman Syndrome Foundation, called ASF, have formed a legislative group…
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