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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…
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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…
Columnist Jacqueline Babiarz is grateful that her family, including her 12-year-old with Rett syndrome, has received the COVID-19 vaccine.
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases of Rett syndrome are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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