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

Excess blood acid from kidney problem common in hATTR: Study

Nearly every fifth adult with hereditary transthyretin amyloidosis (hATTR), a group of conditions that includes familial amyloid polyneuropathy (FAP), has renal tubular acidosis (RTA) — a problem that occurs when the kidneys fail to remove acids from the blood into the urine. That’s according to a new study from…

Young adults at risk of FAP may need tailored healthcare support

Young adults at risk for familial amyloid polyneuropathy (FAP) face unique psychological and social challenges, and likely would benefit from tailored healthcare support when undergoing pre-symptomatic testing for the rare disease. That’s according to a new study by researchers in Portugal, who conducted interviews with more than a dozen…

First hATTR patient dosed in Phase 1/2a trial of gene-editing therapy

The first patient has been dosed in a China-based Phase 1/2a clinical trial testing YOLT-201, Yoltech Therapeutics’ one-time gene-editing therapy, in people with hereditary transthyretin amyloidosis (hATTR), a group of diseases that includes familial amyloid polyneuropathy (FAP). Two weeks after receiving the investigational therapy, which was given as…

Muscle ultrasound may help monitor FAP severity

The parameters of muscle ultrasound, which uses sound waves to make pictures of muscles, are significantly different among people with familial amyloid polyneuropathy (FAP), those not yet showing overt disease symptoms, and healthy people. That’s according to a small study in Malaysia that suggests this noninvasive imaging scan…

Nerve cell damage marker may aid in early FAP diagnosis: Study

A study of people carrying mutations known to cause familial amyloid polyneuropathy (FAP) found that those with disease symptoms had significantly higher levels of neurofilament light chain (NfL) — a protein that’s a marker of nerve cell damage — in their blood than those who hadn’t shown symptoms, indicating…