Angelman Syndrome News

March 8, 2022March 8, 2022

#RAREis Representation Program Promotes Equity, Diversity

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; ... Read more

March 2, 2022March 3, 2022

Rare Disease Day Panel Opens Window to Patient Experience

Angelman Syndrome News

BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including ... Read more

February 28, 2022February 28, 2022

Surge in Telehealth Brings Access, Convenience to Rare Disease Patients

Angelman Syndrome News, COVID-19 News

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day ... Read more

February 23, 2022February 23, 2022

Q&A With RARE-X Disease Data Platform Founder, Nicole Boice

Angelman Syndrome News

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work ... Read more

February 18, 2022February 18, 2022

More Studies Confirm Hefty Economic Burden of Rare Diseases

Angelman Syndrome News

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion. ... Read more

February 16, 2022February 16, 2022

Early Enriching Intervention Helps Restore Behaviors in Mouse Study

Angelman Syndrome News

Early intervention with environmental stimulation appears to have restored motor coordination and behaviors in a mouse model of Angelman syndrome. The protocol was more successful in male mice than in females, ... Read more

February 9, 2022February 10, 2022

Supporters Poised for International Angelman Day on Feb. 15

Angelman Syndrome News

International Angelman Day is Feb. 15 and, around the world, about 50 organizations and scores of supporters will come together to bring attention to the neurological disorder and the needs ... Read more

February 9, 2022February 9, 2022

Rare Disease Day Events Bring Awareness, Equity to Patients

Angelman Syndrome News

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and ... Read more

February 2, 2022February 3, 2022

Distinct Age-related Facial Features Evident in Angelman Patients

Angelman Syndrome News

Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help ... Read more

January 26, 2022January 26, 2022

Keto Diet Resolves Non-convulsive Seizures in 2 Girls With New Variant

Angelman Syndrome News

A ketogenic diet safely and rapidly controlled treatment-resistant prolonged non-convulsive seizure activity in two girls with Angelman syndrome caused by a new mutation in the UBE3A gene, a study shows. ... Read more

January 20, 2022January 20, 2022

Ketones-enriched Diet May Boost Motor, Cognitive Function in Youth

Angelman Syndrome News

A diet enriched with a nutritional formula supplemented with ketones — natural metabolites that arise from the breakdown of fat — may improve fine motor skills, memory, and cognition in ... Read more

January 19, 2022January 20, 2022

FAST Science Summit Brings Message of Hope and Raises Funds

Angelman Syndrome News

Researchers brought a message of hope for the Angelman syndrome community as they discussed advances in treatment and scientific knowledge at the recent 2021 FAST Global Science Summit and Gala ... Read more

January 12, 2022January 12, 2022

Researchers Encourage Screening for New Mutations Linked to Angelman

Angelman Syndrome News

Screenings should be conducted for novel mutations in people with Angelman syndrome-like disease — those with clinical features of Angelman but whose genetic cause remains unknown — say researchers who ... Read more

January 5, 2022January 5, 2022

1st Angelman Patient in UK Dosed in Trial of Gene Therapy GTX-102

Angelman Syndrome News

A first patient in the U.K. has been dosed in the resumption of a Phase 1/2 clinical trial evaluating the safety of the gene therapy GTX-102 in children and adolescents with Angelman syndrome. The ... Read more

December 29, 2021December 29, 2021

Prepare to Light Up Buildings for Rare Disease Day 2022

Angelman Syndrome News, COVID-19 News

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the ... Read more