News

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…

A new visualization tool, created by Dutch researchers, details the genetic pathways of deleted genes in Prader-Willi syndrome (PWS) and Angelman syndrome (AS), showing that some common symptoms are caused by multiple genes. The study, “Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for…

Boston-based FDNA has launched a new global initiative to promote medical research collaborations and to develop new precision approaches for diagnosing and treating disease, including Angelman syndrome, the company said. The initiative, called Genomics Collaborative, uses computer analysis and artificial intelligence technologies to integrate genetic information with the physical and biological characteristics…

The loss of a fundamental protein in the brain may explain how genetic changes in Angelman syndrome lead to the neurological impairments seen in this condition and in other autism spectrum disorders (ASDs). Researchers reached this conclusion in a study titled, “Loss of…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

On the last day of February every year, hundreds of patient organizations worldwide get together to raise awareness for rare diseases. This year, to celebrate Rare Disease Day on Feb. 28, the Angelman Syndrome Foundation (ASF) is challenging all families to share their story to inspire the Angelman…