Margarida Maia, PhD, science writer —

Margarida is a biochemist (University of Porto, Portugal) with a PhD in biomedical sciences (VIB and KULeuven, Belgium). Her main interest is science communication. She is also passionate about design and the dialogue between art and science.

Articles by Margarida Maia

Gene editing increases type VII collagen production in skin cells

A gene editing strategy corrected a disease-causing mutation in lab-grown cells derived from the skin of two individuals with recessive dystrophic epidermolysis bullosa (DEB), according to a study by researchers in the U.S. and France. “With this promising non-viral approach, we achieved therapeutically relevant specific gene editing,” the researchers…

Tofacitinib eases itching in man with DEB pruriginosa

Tofacitinib, an oral anti-inflammatory medication, eased itching and reduced skin lesions in a young man with dystrophic epidermolysis bullosa (DEB) pruriginosa caused by two newly identified mutations, according to a report from China. The report, “Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with…

Inflammation in RDEB may favor skin cancer growth: Mouse study

Inflammation occurring early in the course of recessive dystrophic epidermolysis bullosa (RDEB) may create conditions for the disease to progress and for cancer to grow in the skin, a mouse study suggests. Although further studies are necessary, the findings “underscore the essential role of inflammation in RDEB pathophysiology [disease]…

Dupilumab effective for DEB pruriginosa in 22-year-old: Report

A young woman whose dystrophic epidermolysis bullosa (DEB) pruriginosa was caused by a newly identified gene mutation responded well to treatment with dupilumab, a medication that relieves itching, researchers in China report. Dupilumab, approved as Dupixent for several other diseases, is given as a subcutaneous or under-the-skin…

Abeona seeks FDA approval for EB-101 cell therapy for RDEB

Abeona Therapeutics is seeking U.S. Food and Drug Administration (FDA) approval for EB-101, an investigational cell therapy for recessive dystrophic epidermolysis bullosa (RDEB). The biologics license application (BLA) submitted by the company was filed along with a request for priority review, which, if granted, would shorten the…

Case report describes boy with JEB, two other rare diseases

A young boy in Spain was evaluated for developmental delay and found to have three different genetic diseases: junctional epidermolysis bullosa (JEB), Angelman syndrome, and autosomal recessive deafness type 57. While having more than one genetic disease is not uncommon, researchers estimated that having both JEB and Angelman…

Blood Test May Help Diagnose Anemia in RDEB Children

The level of soluble transferrin receptor (sTfR) in blood may help diagnose more children with anemia, a condition caused by having too few red blood cells that’s common in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. The study, “Iron status and burden of anemia in children with…