Posts by: Joana Carvalho

Joana Carvalho

Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.

November 10, 2020November 10, 2020

GTX-102 Leads to Significant Improvements in Trial, But Also Causes Muscle Weakness

News

Use of GTX-102, GeneTx Biotherapeutics and Ultragenyx’s investigational therapy for Angelman syndrome, led to substantial improvements in disease symptoms among children and adolescents across several treatment areas — including behavior, ... Read more

October 6, 2020October 6, 2020

Analysis Examines Health-related Quality of Life in Angelman Adolescents, Adults

News

Adolescents and adults with Angelman syndrome have a poor overall health-related quality of life (HRQoL) compared to the general population in the U.S., according to an exploratory analysis of a ... Read more

September 15, 2020September 15, 2020

Lixte Teams Up With FAST to Support Preclinical Studies of LB-100

News

Lixte Biotechnology Holdings is teaming up with the Foundation for Angelman Syndrome Therapeutics (FAST) to advance preclinical studies investigating its proprietary lead compound, LB-100, as a potential treatment for Angelman ... Read more

March 2, 2020March 2, 2021

UBE3A Activity in Immune Cells May Underlie Patients’ Motor, Speech Difficulties

News

High activity levels of the UBE3A gene in immune cells is linked to poorer fine motor and language skills in people with Angelman syndrome (AS) and more severe autistic features in those ... Read more

January 5, 2020January 5, 2021

Challenges Facing Adults With Angelman Detailed in Study

News

Despite being relatively healthy, adults with Angelman syndrome should be carefully monitored, particularly for weight control, vision and gastrointestinal issues, behavioral and sleep problems, and epilepsy, a study suggests. According ... Read more

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 phenotypic ... 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 in ... 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 Angelman ... Read more

August 12, 2019August 12, 2019

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

News

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 learning ... Read more

July 29, 2019July 29, 2019

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

News

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 study, ... Read more