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April 24, 2019April 24, 2019

EpiSign Blood Test Helps Make Accurate Diagnosis of Angelman, Other Diseases

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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 ... Read more

April 22, 2019April 22, 2019

Neurological Deficits of Angelman May Depend on microRNA Deficiency

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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, ... Read more

April 15, 2019April 15, 2019

Reactivating UBE3A May Reverse Changes in Brain in Angelman Syndrome, Study In Mice Shows

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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 ... Read more

April 8, 2019April 8, 2019

Germline Mosaicism Linked to Angelman Syndrome in 2 Siblings for 1st Time, Researchers Say

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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 ... Read more

March 25, 2019March 25, 2019

Study Finds Differences in Brain Activity Based on Genotype in Angelman Patients

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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 ... Read more

March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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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 ... Read more

March 11, 2019March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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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 ... Read more

March 11, 2019March 11, 2019

Poor Sleep, Preference for ‘Baby Foods’ Associated with Angelman, Review Says

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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 ... Read more

March 6, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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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 ... Read more

March 4, 2019March 4, 2019

Gender Should Be Considered When Treating Angelman, Mouse Study Suggests

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Sex-dependent behavioral and sensory symptoms in Angelman syndrome support the involvement of sex hormones in disease development and suggest that gender should be considered when treating patients, according to ... Read more

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