News

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

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…

Amicus Therapeutics has officially opened its Global Research and Gene Therapy Center of Excellence to advance the company’s gene therapy programs for rare diseases such as Angelman syndrome. Located in Philadelphia, the 75,000-square-foot research facility consists of offices and state-of-the-art laboratories. An invitation-only ribbon event in early…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

The first patient has been dosed in GeneTx Biotherapeutics’ Phase 1/2 KIK-AS clinical trial evaluating GTX-102 for the treatment of Angelman syndrome. “Today is an important milestone with the dosing of the first patient in the KIK-AS study,” Scott Stromatt, MD, chief…

Activating the insulin‐like growth factor 2 receptor, or IGF-2R — a cell surface receptor involved in protein trafficking and degradation within cells — partially or completely corrected cognitive, motor, and behavioral deficits in a mouse model of Angelman syndrome, a study shows. Notably, these benefits were observed with the…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…