News

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

The United Kingdom’s Medicines Healthcare Products Regulatory Agency (MHRA) has authorized a Phase 1/2 clinical trial to test the investigational therapy GTX-102 in children and adolescents with Angelman syndrome. The open-label KIK-AS trial (NCT04259281), which also has been given a green light in Canada, is expected to open enrollment in the…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Neuren Pharmaceuticals is a step closer to Phase 2 clinical testing of NNZ-2591, its investigational therapy for Angelman syndrome, Phelan–McDermid syndrome, and Pitt Hopkins syndrome, after the company received clear and constructive guidance from the U.S. Food and Drug Administration. All three syndromes are early…

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,…

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…