News

A first-generation university student has been awarded a six-year, $466,669 grant from the National Institutes of Health (NIH) to fund his doctoral and postdoctoral research into brain-derived neurotrophic factor (BDNF), a protein that plays a role in Rett syndrome. The Virginia Tech student, Raymundo Hernandez, called the NIH grant…

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

Shape Therapeutics has raised $112 million in financing to support work into developing its portfolio of RNA technologies to potentially treat genetic diseases, including Rett syndrome. “We have witnessed the power of [messenger RNA] in the vaccine space and are now entering a new era where we can…

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

The molecular mechanism by which the protein MeCP2 recognizes and binds to CA repeats — repetitive short sequences of DNA that are found throughout the genome — has been unraveled in a new study that sheds light on the causes of Rett syndrome. Researchers in France discovered that MeCP2…

Treatment with a protein called CNF1 produced different results in two different mouse models of Rett syndrome, demonstrating a need to test therapeutic approaches across disease models, according to a study. Specifically, the CNF1 protein was able to rescue cognitive deficits, but not motor difficulties, in a mouse model…

Using a virtual avatar to guide users during attention and memory tasks significantly improves the performance of people with Rett syndrome, according to a small study from Italy. The human-like interactive agent likely acts as a social motivator for these  patients, who often focus on the face of parents and…

The lack of a working MeCP2 protein — the most common cause of Rett syndrome — skews the immune system toward a proinflammatory state in the central nervous system (CNS, brain and spinal cord), a study in mice suggests. According to its scientists, this finding helps in understanding the…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

The use of microRNA molecules that targeted a protein receptor important for nerve cell growth led to improved behaviors and motor function in a Rett syndrome mouse model, a study shows. These molecules were carried by tiny vesicles called exosomes, which were derived from human urinary stem cells. The…