‘Year’s best paper’ award for cell structure research
Originally from Viseu in Portugal, Carla studied Biology at the University of Aveiro where she became interested in cell biology. In the final year of her five-year course, she was involved in a joint project between her tutor, Professor Edgar da Cruz e Silva, and Professor Andrew Fry in our Department of Biochemistry.
Carla’s research concentrated on the cellular origins of a genetic condition called oral-facial-digital syndrome type 1 (OFD1). As the name suggests, this is characterised by disfigurements of the face, mouth, fingers and toes, but it also affects the kidneys and can lead to renal failure.
OFD1 is a ciliopathy, a disorder related in some way to the antenna-like cilia which project from the cell membrane, and has an estimated incidence of somewhere between 1 in 50,000 and 1 in 250,000.
In 2006, Carla moved to Leicester to continue her research under Professor Fry as a PhD student. Using human cultured cells as a biological model, she showed that OFD1 is connected with ‘centriolar satellites’, structures around the base of cilia which provide assembly points for proteins that affect OFD1 and other conditions. Studies in embryonic zebrafish* and human nasal epithelia also provided important insights into the function of OFD1 protein.
Carla’s paper, published in the February 2011 edition of J Cell Sci, was co-authored with Professor Fry, Suzanna Prosser (Department of Biochemistry), Robert Hirst and Chris O'Callaghan (Department of Infection, Immunity and Inflammation), Leila Romio (UCL) and Adrian Woolf (University of Manchester). Carla completed her PhD in December 2010 and has since returned to Portugal - where the award has generated a lot of media interest - and taken a post in the Portuguese Oncology Institute in Lisbon.
- Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome doi:10.1242/jcs.077156
*Zebrafish are a surprisingly common model in medical experiments as the embryos develop outside the mother and are conveniently transparent.