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…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
High activity levels of the UBE3A gene in immune cells is linked to poorer fine motor and language skills in people with Angelman syndrome (AS) and more severe autistic features in those with Prader-Willi syndrome (PWS), a study reported. According to its researchers, these findings suggest that inflammatory cascades and changes…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. 20 webinar. William Whitman…
Scientists have created a new rat model of Angelman syndrome (AS) that best mirrors the most common genetic cause of the disease and demonstrates many of its symptoms, including motor deficits, and learning and memory problems. The new model will likely offer a better tool for discovering and…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
GeneTx Biotherapeutics has received institutional review board approval to start a Phase 1/2 clinical trial of GTX-102, its investigational therapy for the treatment of Angelman syndrome. While Rush University Medical Center in…
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