People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of…
Articles by Marta Figueiredo, PhD
A single injection into the brain of an investigational gene therapy now in clinical trials partly prevented retinal degeneration…
Adding cannabis oil to standard anti-seizure medications may be an effective way of managing…
The first wave of COVID-19Â in Europe severely disrupted access to care and raised stress and anxiety in people with…
Vision degeneration in children with CLN2 disease, also known as late infantile Batten disease, occurs similarly in both…
Anesthesia seems generally safe in children and adolescents with Batten disease, according to a study evaluating complications immediately before, during,…
The CLN3 protein — the defective form of which underlies juvenile Batten disease — regulates several degradation and…
Children with rapid and progressive vision loss — regardless of cognitive or behavioral problems — should be tested for…
Sanger sequencing — a conventional genetic test useful to identify mutations in disease-associated genes — can effectively help to provide…
CLN7, the protein lacking in CLN7 Batten disease, is involved not only in the functioning of lysosomes (the cellular compartment…