Lorena Kumarasinghe

Autophagic defects in Lafora disease due to mutations in the TRIM-like E3 ligase Malin

Host Lab

Pascual SANZ
CSIC - Agencia Estatal Consejo Superior de Investigaciones Cientificas
Nutrient Signaling Unit, Institute of Biomedicine, Valencia


Lorena Kumarasinghe graduated in Health Biotechnology in 2015 by the University of Naples Federico II, Italy and completed her master’s degree in Experimental Therapeutics in 2017 by the University of Oxford, UK. Her thesis was carried out at the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli and she focused on Lysosomal Storage Disorders (LSD) and was involved in the generation of LSD cellular models, through CRISPRr-Cas9 technology. In October 2019 she became part of the TRIM-NET and currently she is carrying out her PhD research in Biotechnology and Biomedicine under the supervision of Professor Pascual Sanz at the IBV, in Spain.

Lorena’s project deals with Lafora disease. Lafora disease is a rare and fatal form of progressive myoclonus epilepsy due to mutations in either of two genes: EPM2A, encoding Laforin, a dual specificity phosphatase, and EPM2B, encoding Malin, a RING-type E3 ubiquitin ligase which is evolutionary related to the TRIM family of E3 ubiquitin ligases. Lorena will analyze the involvement of Malin in the regulation of autophagy. Preliminary experiments in Sanz’s lab indicate that Malin participates in the initial steps of autophagosome formation. She will study the possible substrates and mode of action of Malin in the autophagic process.