Eduardo Calpena Corpas

"Rare diseases are rare, but rare disease patients are numerous"

Rare diseases awakened my interest for Human Genetics and since that, I have been involved in projects for identifying new genes involved in Mendelian Genetic Disorders and for the discovery of genetic modifiers. 

I performed my PhD studies ('The genetic and cellular bases of inherited peripheral neuropathies') at the Genetics and Genomics of Neuromuscular Diseases Unit, Principe Felipe Research Center (CIPF) and the Biomedical Institute (IBV'CSIC, Spanish Research Council) in Valencia (Spain). 

As a Postdoctoral Research Assistant at the Clinical Genetics group, my main objective is to identify new disease genes in craniofacial disorders, and for that, we are using Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) technologies.