Posts by: Marta Figueiredo

Marta Figueiredo

Marta Figueiredo holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from the University of Lisbon, Portugal. She is currently finishing her PhD in Biomedical Sciences at the University of Lisbon, where she focused her research on the role of several signalling pathways in thymus and parathyroid glands embryonic development.

December 1, 2020December 1, 2020

CRISPR-Cas9 Gene Therapy Shows Promise in Preclinical Angelman Study

News

A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse ... Read more

November 26, 2020November 26, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

News, syndicated

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to ... Read more

October 13, 2020October 13, 2020

Iron Therapy May Improve Sleep Quality in Young Angelman Patients

News

Sleep disturbances in people with Angelman syndrome may be at least partly associated with iron deficiency, according to a small study in the U.S. The data also showed that ... Read more

June 30, 2020June 30, 2020

Common Genetic Variation May Be Tied to Imprinting Defects, Study Finds

News

The presence of a common genetic variation in women may increase the risk of deficient genomic imprinting and the development of Angelman syndrome in their children, a study shows. ... Read more

December 7, 2018December 7, 2018

Newer Anti-epileptic Therapies May Be Safer, More Effective in Reducing Seizures in Angelman’s Patients

News

Newer anti-epileptic medications — such as Keppra (levetiracetam), Lamitcal (lamotrigine), and clobazam — as well as low glycemic index treatment may be more effective in reducing epileptic seizures and ... Read more

July 6, 2018July 6, 2018

Mutations in UBE3A Gene Impair Normal Development of Brain Circuits, Review Suggests

News

UBE3A, the protein underlying Angelman syndrome, is crucial for the maturation and adaptability of the visual circuits in the brain, according to a recent review study. The study, “Common Defects ... Read more

July 2, 2018July 2, 2018

Chromosomal Diagnostic Test Allows for Early Diagnosis, Better Treatment Planning in Angelman Patients

News

A molecular technique, known as chromosomal microarray analysis, enables early diagnosis of several genetic neurodevelopmental disorders — including Angelman syndrome — and improved treatment management, according to a Chinese ... Read more

March 23, 2018March 23, 2018

Newly Identified Molecular Targets Have Potential Implications for Angelman Syndrome

News

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 ... Read more