New targets of the UBE3A enzyme responsible for Angelman syndrome have been identified, increasing scientific knowledge behind the molecular processes leading to this disease. The study, “Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome,”…
A case of bladder cancer in a young woman with Angelman syndrome suggests a potential association between these two conditions. Reported by East Tennessee State University researchers, the case was described in “Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome,” published in Case Reports in Urology.
More than 90 percent of Angelman syndrome cases are caused by genetic abnormalities affecting the E3 ubiquitin ligase (UBE3A) gene. In the study “A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders,” a team at Georgia State University reviewed what is known about this enzyme…
Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
Electrical stimulation of a nerve in the neck reduces Angelman syndrome patients’ epileptic seizures, a study confirms. Doctors call this therapy vagus nerve stimulation. It involves connecting a pulse generator, similar to a pacemaker, to the neck’s left vagus nerve. The mild electrical signals that the generator sends reduces the length…
When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
Purdue University is conducting a telehealth study to help identify autism symptoms in infants with rare neuro-genetic diseases who might otherwise not be able to receive specialized care. Results of the study may help children receive tailored therapy earlier than they normally would. The five-year study will focus on prospective…
Children with Angelman syndrome experience severe night waking and higher sleep-disordered breathing scores, which were associated with poor health compared to age-matched peers, a new study looking at sleep disturbance in children with rare genetic syndromes shows. The study titled, “A cross-syndrome cohort comparison…
At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…
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