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

New MFSD8 mutation identified in girl with CLN7 disease

A new mutation in the MFSD8 gene was identified as the cause of CLN7 disease, a form of late-infantile Batten disease, in a young Italian girl with developmental regression and a smaller-than-normal head, a case report shows. “Our case is discussed to highlight the pivotal role of clinical genetics, and of a…

2 Scientists in Australia Awarded 2021 Batten Research Grants

Winners of the Australia and New Zealand Batten Disease Research Grant for 2021 have been announced by the Batten Disease Support and Research Association (BDSRA) Australia, the program’s sponsor. They are Anthony White, PhD, an associate professor and principal research fellow at QIMR Berghofer Medical Research Institute in Brisbane, Australia, and Anthony…

LX1004 Gene Therapy Wins Orphan Drug, Rare Pediatric Disease Status

The U.S. Food and Drug Administration (FDA) has granted both orphan drug and rare pediatric disease designations to LX1004, an investigational gene therapy for CLN2 disease, also known as late infantile Batten disease. “Both designations granted to LX1004 underscore the critical importance and urgency to advance new treatment approaches…