Angelman Syndrome News

October 13, 2021October 13, 2021

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC ... Read more

October 13, 2021October 13, 2021

FDA Clears Way for KIK-AS Phase 1/2 Trial to Resume

Angelman Syndrome News

The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 study testing GTX-102 — an investigational therapy by GeneTx Biotherapeutics and Ultragenyx Pharmaceutical — in children and ... Read more

October 6, 2021October 6, 2021

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

Angelman Syndrome News

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and ... Read more

September 29, 2021September 29, 2021

New Data-sharing Program Aims to Speed Innovation in Rare Diseases

Angelman Syndrome News

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and ... Read more

September 22, 2021September 22, 2021

Uplifting Athletes Tackles Funding for Rare Disease Research, Awareness

Angelman Syndrome News, COVID-19 News

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games ... Read more

September 16, 2021September 16, 2021

New Institute Aims to Leave No Rare Disease Patient Behind

Angelman Syndrome News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest ... Read more

September 15, 2021September 15, 2021

FAST Supports Work Into Data Gained in 2 Natural History Studies

Angelman Syndrome News

A new collaboration will help to speed the analysis, correlation, and publication of data sets from an ongoing natural history study, and a previous similar study in people with Angelman ... Read more

September 14, 2021September 23, 2021

Ketogenic Supplement Well-tolerated by Children in Small Trial

Angelman Syndrome News

A dietary supplement meant to mimic the effects of a ketogenic diet — known to reduce seizure frequency in patients with Angelman syndrome — was well-tolerated by children with the neurological ... Read more

September 10, 2021September 10, 2021

Group Focuses on Rare Disease Clinical Trial Participation

Angelman Syndrome News

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running ... Read more

September 8, 2021September 8, 2021

UC Davis Scientist Awarded $1.36M to Develop Angelman Gene Therapy

Angelman Syndrome News

A professor at the University of California (UC) Davis Health has been awarded a $1.36 million Discovery Stage Research Projects (DISC2) grant to develop a gene therapy for Angelman syndrome, ... Read more

September 1, 2021September 1, 2021

‘Running for Rare’: NORD a Charity Partner of 2021 NYC Marathon

Angelman Syndrome News

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both ... Read more

September 1, 2021September 1, 2021

Australian Study Examines High Cost of Angelman

Angelman Syndrome News

The total cost of raising a child with Angelman syndrome (AS) is almost $100,000 AUD — more than $70,000 USD — per year, according to an Australian study. The data ... Read more

August 25, 2021August 25, 2021

‘Not Alone in the Dark’: New Guide for, by Caregivers of Children With Rare Diseases

Angelman Syndrome News

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The ... Read more

August 18, 2021August 18, 2021

Register Now for Global Genes’ RARE Patient Advocacy Summit

Angelman Syndrome News

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending ... Read more

August 12, 2021August 12, 2021

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

Angelman Syndrome News, COVID-19 News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for ... Read more