Eduardo Calpena Corpas
Postdoctoral Research Assistant
"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.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS. et al, (2023), Genet Med
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Tooze RS. et al, (2023), Genes, 14, 615 - 615
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze RS. et al, (2022), J Med Genet
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF. et al, (2022), Genet Med
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52