Posts by: Joana Carvalho, MSc

Joana Carvalho, MSc

Joana is currently completing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. She also holds a BSc in Biology and an MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that make up the lining of blood vessels — found in the umbilical cord of newborns.

December 17, 2019December 17, 2019

Mosaic Angelman Should be Included in the Differential Diagnosis of People With Milder AS Symptoms, Study Suggests

News

Clinicians should consider mosaic Angelman syndrome in the differential diagnosis of people who show milder symptoms of the disorder, a study suggests. The study, “Preserved expressive language as a ... Read more

November 26, 2019November 26, 2019

Blocking Activity of α1-NaKA Can Restore Certain Neurological Deficits in Angelman, Mouse Study Suggests

News

Blocking the activity of sodium-potassium ATPase, an enzyme that is essential in maintaining ion balance in all types of cells, can restore calcium dynamics and other abnormal neurological features ... Read more

October 29, 2019October 29, 2019

NIH Grants $6.1M to Genetic Research in Angelman Syndrome at University of North Carolina

News

The National Institutes of Health (NIH) has awarded two grants totalling $6.1 million to support two research projects: one focused on the development of a new gene therapy for ... Read more

August 12, 2019August 12, 2019

Spaced Training Can Improve Learning in Down, Angelman Patients, Mouse Study Shows

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Spaced training interventions may be used to minimize learning impairments associated with neurological disorders, including Down and Angelman syndrome, a mouse study has found. The results, “Spaced training improves ... Read more

July 29, 2019July 29, 2019

Cannabidiol Reduces Seizures, EEG Abnormalities in AS Mice, Study Finds

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Treatment with cannabidiol reduces seizures and abnormal electric brain activity in mice with Angelman syndrome (AS), supporting its use as an anti-seizure treatment for patients, a study finds. The ... Read more

July 15, 2019July 15, 2019

Anxiety Common in Older Children and Especially Evident When ‘Preferred’ Caregiver Absent, Study Says

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Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into consideration by doctors to improve both their quality of life and ... Read more

June 24, 2019June 24, 2019

20-Year Mystery of Girl with Angelman and 2nd Rare Disease Solved via Genetic Testing

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Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding ... Read more

June 3, 2019June 3, 2019

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

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Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis ... 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

February 11, 2019February 11, 2019

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

News

The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including Angelman syndrome, experience sleep problems, a review study has ... Read more

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