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

Episodes of pain lead to AIP diagnosis in teenage girl

A 17-year-old girl was eventually diagnosed with acute intermittent porphyria (AIP) after experiencing several episodes of intense abdominal pain, gastrointestinal issues, and seizure-like activity, according to a report in the U.S. “This case highlights the diagnostic complexities and treatment challenges that patients with AIP face when navigating this challenging…

Newborn diagnosed with rare case of ALAD porphyria: Report

A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an…

Woman’s undiagnosed hereditary hemochromatosis triggers porphyria

Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT), according to a case report. The woman was treated with therapeutic phlebotomy, or bloodletting, to remove excess iron from the blood, which significantly eased her symptoms. Hereditary hemochromatosis is a…

Vitamin D may prevent osteoporosis in EPP patients, study finds

Vitamin D plays a crucial role in maintaining and enhancing bone mineral density in people with erythropoietic protoporphyria (EPP), according to a study from the Netherlands. EPP patients in the study had high prevalence of osteopenia, or lower-than-normal bone density, and osteoporosis, a more severe form of bone loss.

UPA receives grant to advance porphyria diagnosis, treatment

The United Porphyrias Association (UPA) has received a five-year grant from the Chan Zuckerberg Initiative Rare As One Project to support efforts including advancing progress on the diagnosis, research, and treatment of porphyria. The association said the grant will “significantly enhance UPA’s ability to build a comprehensive…

Diagnosis of rarest of porphyria types linked to iron supplement

A 21-year-old woman was diagnosed with congenital erythropoietic porphyria (CEP) — the rarest of porphyria types — after developing acute liver failure and swelling in the legs and mouth associated with the intake of ferrous sulfate, an iron supplement. The woman had a previous history of chronic iron deficiency…