Author Archives: Marisa Wexler, MS

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…

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…

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,”…

In-person social engagement is more important for fostering imitative behaviors in children with Angelman syndrome than in typically-developing children, a new study suggests. The study, “Imitation in Angelman syndrome: the role of social engagement,” was published in Scientific Reports. People with Angelman syndrome (AS) typically have abnormal…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Neuren Pharmaceuticals has begun manufacturing of NNZ-2591, an investigational treatment for Angelman syndrome and other diseases, for use in Phase 2 clinical trials. NNZ-2591 is an analogue of cyclic glycine proline (cGP), a peptide (small protein) that naturally exists in the brain and is important for…

Ovid Therapeutics‘ OV101 (gaboxadol) has been granted a rare pediatric disease designation by the U.S. Food and Drug Administration (FDA) for the treatment of Angelman syndrome. This designation is…

Asklepios BioPharmaceutical (AskBio) and the University of North Carolina at Chapel Hill (UNC) have entered into an agreement for the development of a gene therapy for Angelman syndrome. Angelman syndrome is caused by the loss-of-function of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene. The…

A new rat model of Angelman syndrome (AS) involves complete deletion of the maternal UBE3A gene, which causes multiple behavioral and neurological abnormalities. This model could be useful for better understanding AS and for testing new therapies. The study, “Translational outcomes in a full gene deletion of…