Andrea Lobo, PhD, science writer —

Andrea Lobo holds a PhD in cell biology/neurosciences from the University of Coimbra-Portugal, where she studied stroke biology. As a research scientist for 19 years, Andrea participated in academic projects in multiple research fields, from stroke, gene regulation, cancer, and rare diseases. She has authored multiple research papers in peer-reviewed journals.

Articles by Andrea Lobo

Mitochondria dysfunction linked to cardiomyopathy in Pompe patients

Mitochondria dysfunction is linked to hypertrophic cardiomyopathy — when the heart becomes enlarged and cannot pump blood efficiently — in people with Pompe disease, according to a new study from China. The disease-causing mechanisms were explored in a patient-derived heart cell model with characteristics of Pompe disease, including low…

Heart MRI can aid in diagnosing Pompe disease: Case report

Heart defects detected with cardiac MRI (CMR) may help diagnose classic infantile-onset Pompe disease in early childhood, a case report from China suggests. An imaging exam showed a patient’s heart ventricles — the chambers that pump blood through the bloodstream and lungs — were enlarged, along with fibrosis (scarring).

Blood NfL levels linked to cognitive deficits in IOPD

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — are increased from infancy to young adulthood in classic infantile-onset Pompe disease (IOPD) patients given enzyme replacement therapy (ERT), a study shows. This contrasted significantly with the blood NfL level reduction seen in…