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Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
Treatment with omega-3 fatty acid restored the function of mitochondria, the production centers of cellular energy, in brain cells called astrocytes lacking MeCP2 — the key protein in most cases of Rett syndrome, a study reported. The study, “Docosahexaenoic acid increased MeCP2 mediated…
Scientists were able to improve memory recall in Rett syndrome mice by activating a set of inhibitory brain cells called somatostatin-expressing interneurons (SOM), in part by using a miniature microscope that allowed them to monitor the animals’ neurons. Deficiencies in the SOM nerve cells contributed to impairments in long-term…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
Supplementing with Vitamin D rescued the altered activity of genes associated with Rett syndrome and improved behaviors in a mouse model, a study showed. The findings indicate that supplementation could provide a simple, cost-effective therapeutic option to help Rett patients, the scientists said. The study, “Vitamin…
A six-month intensive and individualized exercise program prevented the progression of scoliosis, a sideways curvature of the spine, in most girls and women with Rett syndrome taking part in a study. In two young patients, the intervention completely corrected the spine’s curve. “This result is highly significant as no spontaneous scoliosis curve…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The protein MeCP2 normally forms a complex with several other proteins in the brain that helps to regulate the development of connections between brain cells, a study reported. These findings offer new insight into how Rett syndrome and other conditions caused by mutations affecting MECP2 can develop. The study…
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