News

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

The first patient has been dosed in Anavex Life Sciences’ AVATAR Phase 2 trial, taking place in Australia, and evaluating the safety and efficacy of Anavex 2–73 for the treatment of Rett syndrome. Anavex 2–73, developed by Anavex Life Sciences, is a small molecule that activates a protein…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

A recombinant version of MeCP2 — the faulty protein in Rett syndrome — has the potential to enter the brain, encouraging its development as a protein replacement therapy for the disease, researchers say. The scientists have also developed an assay that can accurately and sensitively detect MeCP2, which…

Two scientists will receive a total of $850,000 to advance treatment and diagnostic projects in Rett syndrome and MECP2 Duplication syndrome. Rettsyndrome.org, a leading private funder of Rett syndrome research, will award Jeannie T. Lee, MD, PhD, of Massachusetts General Hospital in Boston a $600,000, two-year…

Loss of MECP2, the defective protein in most people with Rett syndrome, induces premature growth arrest of bone marrow stem cells — known as senescence — and limits their energy production, according to a mouse study. These biological alterations may underlie the development of the disease, the researchers…

Cannabidivarin, a non-psychotic compound found in cannabis, fully rescued memory deficits and delayed the appearance of neurological and motor defects in a mouse model of Rett syndrome (RTT), a study found. The results, “Cannabidivarin completely rescues cognitive deficits and delays neurological and…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Teeth malocclusion, or misalignment, is linked to severe dysphagia (difficulty in swallowing) in girls with Rett syndrome, a study finds. The research was reported in a study, “Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study,” published in the Sultan Qaboos University Medical Journal.