Mendelian genetic diseases are caused usually by mutations in a single gene. However, patients of a given disease have wide variability in the severity and the age-at-onset of the disease. We, and many other researchers, believe that other mutations within the genome of patients modulate the strength with which the disease affects each patient. Our aim is to find such modifier genes which in turn may point out potential therapeutic approaches.
The WormLab is part of the Research Group in Molecular, Cellular and Genomic Biomedicine, led by Dr. JM Millán, at the Health Research Institute La Fe (IIS-La Fe, Valencia). This research group is devoted to undercover genes and pathways implicated in a range of rare diseases, such as the Usher Syndrome, retinopathies and neurodegenerative diseases. Our team works in tight collaboration with clinical and basic researchers, to deepen the knowledge about the physiology, genetics and clinical of these diseases. In the WormLab we use the worm nematode Caenorhabditis elegans as a tool to study of the molecular basis of neurodegenerative disease and other genetic conditions.
Among other projects the WormLab has been awarded with a Marie Skłodowska-Curie Grant, from the 7th Frame Program of the European Commission (»Mechaggreganamics«). This project aims at create new models of the Huntington’s disease, a devastating condition caused by mutant huntingtin. Also, we search for genes that modulate the toxic processes raised by genes encoding abnormal expansions of triplets, such as the CAG expansion in the first exon of the mutant Htt gene.