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Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Alcyone Therapeutics, a new company focused on developing gene therapies for disorders that affect the nervous system, announced its official launch. One of its lead candidates, ACTX-101, is an investigational gene therapy for Rett syndrome now in preclinical testing with a goal of bringing into clinical trials in patients…

The Rett Syndrome Research Trust (RSRT) has given two researchers $1.1 million to collaborate on the development of a therapy capable of switching on a healthy, backup copy of MECP2 — the gene mutated in most cases of Rett syndrome. The collaboration involves Antonio Bedalov, MD, PhD, a…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Bruxism, also known as teeth grinding and jaw clenching, during the night is associated significantly with frequent snoring in girls and women with Rett syndrome, an international database study shows. The data also support the previously reported high prevalence of bruxism (reported in 66.2% of patients) in this…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Targeting a biological pathway regulated by MECP2 — the gene mutated in most cases of Rett syndrome — normalized neural development in a study using mice, patient-derived cells, and a 3D model of the brain. The finding suggests that this pathway could become a therapeutic target in Rett syndrome. The…

Providing a working version of MECP2 — the gene mutated in most cases of Rett syndrome — to cells reversed disease-specific symptoms in a mouse model of a common, milder form of Rett syndrome, a study shows. However, female mice treated with this approach showed signs of excessive, toxic levels of MeCP2, the…

The richness and diversity of the gut’s microbial community, or microbiota, are reduced significantly after puberty and associated with greater disease severity in girls and young women with Rett syndrome, a study shows. These findings add to the growing body of evidence linking Rett syndrome and altered gut microbiota.

A gene therapy-like approach that provided a full-length MECP2 — the gene mutated in most cases of Rett syndrome — to cells safely and effectively lessened disease-specific symptoms in a mouse model of a milder form of Rett, a study shows. However, female mice treated with this approach showed…