News

December 22, 2020December 22, 2020

Advocacy Groups Form Advisory Board to Help Researchers

News

Two patient advocacy groups have joined forces to present a unified voice when interacting with pharmaceutical companies and scientists looking to conduct in Angelman syndrome (AS) research. This initiative ... Read more

December 15, 2020December 15, 2020

Angelman Children May Be More Prone to Cavities, Other Teeth Problems, Study Says

News

Children with Angelman syndrome may be more prone to developing cavities in their teeth, due to the growth of thin enamel with an abnormal protein content, according to a ... Read more

December 8, 2020December 8, 2020

OV101 Fails to Meet NEPTUNE Trial Goals; Ovid Will Suspend Development

News

OV101 (gaboxadol), designed to improve motor skills, cognition, and memory in people with Angelman syndrome, did not meet its primary goal (endpoint) in Ovid Therapeutics’ Phase 3 NEPTUNE clinical ... Read more

December 1, 2020December 1, 2020

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

News, syndicated

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders ... Read more

December 1, 2020December 1, 2020

CRISPR-Cas9 Gene Therapy Shows Promise in Preclinical Angelman Study

News

A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse ... Read more

November 26, 2020November 26, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

News, syndicated

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to ... Read more

November 24, 2020November 24, 2020

In-person Engagement Can Help Foster Imitation in Children With Angelman Syndrome

News

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: ... Read more

November 17, 2020November 17, 2020

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

News, syndicated

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about ... Read more

November 10, 2020November 10, 2020

GTX-102 Leads to Significant Improvements in Trial, But Also Causes Muscle Weakness

News

Use of GTX-102, GeneTx Biotherapeutics and Ultragenyx’s investigational therapy for Angelman syndrome, led to substantial improvements in disease symptoms among children and adolescents across several treatment areas — including ... Read more

November 3, 2020November 3, 2020

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

News, syndicated

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 ... Read more