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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

EpiSign is a newly developed blood test that helps diagnose several diseases, including Angelman syndrome, based on specific genetic changes in cells. EpiSign was developed as a collaborative effort between Greenwood Diagnostic Laboratories at the Greenwood Genetic Center in South Carolina and Ontario’s London Health Sciences Centre (LHSC). Diseases can develop in…

The neurological deficits that characterize Angelman syndrome may be rooted in the insufficient production of a small RNA molecule, called miR-708, that leads to abnormal calcium-activated signals in the brain, according to a mouse study. The study, “Down-Regulation of…

Angelman syndrome is caused by a lack of functional UBE3A gene in the brain. Thus, getting brain cells to express a functional UBE3A gene seems like a fairly intuitive therapeutic strategy. Yet at what point during disease progression must UBE3A be introduced in order to avoid the changes seen in…

For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only in a progenitors’ sperm or eggs and is passed on to an individual from otherwise healthy parents — has been associated with Angelman syndrome in two Chinese siblings, researchers…

A new study reports differences in brain activity among Angelman syndrome patients whose disease arises because of changes in the UBE3A gene. The research with that finding, “Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes,” was published in Biological Psychiatry. Angelman syndrome is defined by a lack…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

People with Angelman syndrome take longer to fall asleep, have poorer sleep efficiency compared to normally developing individuals and tend to prefer “baby foods,” a review study says. In their work, researchers propose that such behavioral biases may represent an extreme, abnormal manifestation of traits selected by evolution to…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…