News

Bruxism, also known as teeth grinding and jaw clenching, is the most common oral manifestation in patients with Rett syndrome, according to a small review of literature. The study, “Oral Manifestations of Rett Syndrome—A Systematic Review,” was published in the International Journal of Environmental Research and Public…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Impairments in the cerebellum — a brain region responsible for controlling balance and movement coordination — contribute, in part, to motor impairments associated with Rett syndrome, a mouse study has found. These findings highlight the importance of understanding which brain areas contribute to the onset of specific symptoms associated…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

The United States Patent and Trademark Office (USPTO) has issued an allowance for a patent submitted by DiamiR for methods the company developed that use microRNA (miRNA) as biomarkers of Rett syndrome and other neurodevelopmental diseases.  Notices of Allowance are issued by…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Novartis Gene Therapies is planning to submit an investigational new drug application (IND) for OAV201, its Rett syndrome gene therapy candidate, by the end of the year, the company announced in a letter to the Rett community. If the IND is approved by the U.S. Food and Drug Administration…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. 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…

People with Rett syndrome have significantly weaker electrical responses in the brain to visual and auditory stimuli than do their healthy peers, according to an analysis of patients in a natural history study in the U.S. The strength of these responses was also associated with both age and disease severity.

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…