The unmet clinical needs and general lack of treatment options for people with Angelman syndrome (AS) were the focus of a literature review, which also underscored the lack of research being conduced in people with this disease. The study, “Unmet clinical needs and burden in Angelman syndrome:…
Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…
Sleep problems in children with Angelman syndrome (AS), particularly abnormal nighttime duration and night-walking, start in early infancy, a new study shows. The research, “Sleep phenotypes in infants and toddlers with neurogenetic syndromes,” was published in the journal Sleep Medicine. Children with neurogenetic syndromes…
Agilis Biotherapeutics, which develops innovative DNA therapeutics for rare diseases of the central nervous system, presented the latest results of its gene therapy program for Angelman syndrome at two recent international conferences. During the annual meeting of the European Society of Gene and Cell Therapy (ESGCT), Dr. Kevin…
A test that assesses a fetus’s risk of having a chromosome disorder can help rule out the possibility that a baby will develop Angelman syndrome, a study reports. The test, which doctors began using in 2011, is called a cell-free fetal DNA (cffDNA) screening. Researchers published their article in the American…
More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
Angelman syndrome (AS) patients have a lower preference for social stimuli than typically developing individuals, a new study shows. Also, AS patients do not show increased pupil dilation in response to social scenarios that is seen in healthy subjects. The study resulted from a collaboration between several U.S. institutions: Cincinnati Children’s…
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
Decreasing UBE3A levels has a profound effect on the expression of multiple other genes, mostly due to chemical modifications in the DNA, a new study found. The research shows that loss of UBE3A-affected genes were associated with autism, decreased motor and cognitive activity, and energy expenditure, providing a new link between…
Arc-dependent synaptic response differs in a mouse model of Angelman syndrome (AS) from that seen in healthy mice, and may be related to the cognitive problems patients with this disease experience, researchers report. The study, titled “Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons…
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