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 18, 2020December 18, 2020

Cannabis Oil as Add-on Therapy Seen to Ease Severe Seizures in CLN6 Batten

News

Adding cannabis oil to standard anti-seizure medications may be an effective way of managing treatment-resistant status epilepticus — life-threatening seizures that require urgent medical treatment — in people with ... 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

March 19, 2020March 27, 2020

Critical Period of Vision Degeneration in CLN2 Patients 4 to 7 Years Old, Study Reveals

News

Vision degeneration in children with CLN2 disease, also known as late infantile Batten disease, occurs similarly in both eyes and seems to accelerate from ages 4 to 7, according to ... Read more

March 12, 2020March 12, 2020

Anesthesia Generally Safe in Children and Adolescents with Batten Disease, Study Shows

News

Anesthesia seems generally safe in children and adolescents with Batten disease, according to a study evaluating complications immediately before, during, and after procedures that require anesthesia. These complications, however, ... Read more

March 5, 2020March 5, 2020

Study Sheds Light on CLN3 Involvement in Juvenile Batten Disease

News

The CLN3 protein — the defective form of which underlies juvenile Batten disease — regulates several degradation and recycling processes within cells, mainly associated with a protein called Rab7A, ... Read more

January 23, 2020January 23, 2020

Juvenile Batten Disease Should Be Considered in Children With Rapid Vision Loss, Study Suggests

News

Children with rapid and progressive vision loss — regardless of cognitive or behavioral problems — should be tested for CLN3 disease, the juvenile form of Batten disease, a study suggests. The researchers ... Read more

December 5, 2019December 5, 2019

Genetic Test Can Provide Definitive Diagnosis of Batten Disease, Canadian Study Suggests

News

Sanger sequencing — a conventional genetic test useful to identify mutations in disease-associated genes — can effectively help to provide a definitive diagnosis of Batten disease, according to a Canadian ... Read more

November 21, 2019November 21, 2019

CLN7 Protein is Involved in Communication Between Nerve and Muscle Cells, Batten Disease Model Shows

News

CLN7, the protein lacking in CLN7 Batten disease, is involved not only in the functioning of lysosomes (the cellular compartment responsible for breaking down waste) but also in the communication ... Read more

November 6, 2018November 6, 2018

Canine Models of Batten Disease May Help to Develop New Therapeutic Approaches, Review Says

News

Naturally occurring canine models of several types of neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, may aid in the development of new effective therapies for these conditions, according ... Read more

October 23, 2018October 23, 2018

Researchers ID 8 Potential Biomarkers of Disease Severity in Late Infantile Batten Disease

News

Researchers have identified eight potential biomarkers of disease severity, progression and treatment response in children with late infantile Batten disease. Considering the nature of these biomarkers, the team suggested ... Read more