Unravel Biosciences announced it has begun dosing in a proof-of-concept clinical trial evaluating its experimental therapy, RVL-001, in people with Rett syndrome. Richard Novak, PhD, Unravel’s co-founder and CEO, said this marks “an important milestone for our company and for [people with] Rett syndrome” in a company…
Discussion
Twenty-four years ago this week, my daughter Abby sat 5 feet from one of the world’s most famous movie stars in a hearing room in Washington, D.C., as print and television journalists recorded the biggest media circus ever staged on behalf of Abby’s disability, Rett syndrome. The movie star…
Blocking the signaling of leptin — a hormone involved in appetite regulation, motor function, and behavior — eased some Rett syndrome-like symptoms in a mouse model of the disease, a study found. Data showed that reducing leptin signaling either pharmacologically or genetically in male mice with Rett-like symptoms helped…
Discussion
Practically every parent of a child with a visible disability has a story about the time someone looked crossways at the kid in the grocery store or made a thoughtless or downright hateful comment. This story is the opposite of those. My wife, Donna, and I don’t take many…
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 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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