News

New Institute Aims to Leave No Rare Disease Patient Behind

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 therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Ketogenic Supplement Well-tolerated by Children in Small Trial

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 disorder, according to data from a small clinical trial. The trial met its primary goal of assessing the…

Group Focuses on Rare Disease Clinical Trial Participation

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 an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

Australian Study Examines High Cost of Angelman

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 suggest that, in Angelman and other conditions that cause intellectual abnormalities, less-severe cognitive impairment is associated with less costs.

Register Now for Global Genes’ RARE Patient Advocacy Summit

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 the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…