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.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F. et al, (2022), Am J Hum Genet
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM. et al, (2021), Hum Mutat
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E. et al, (2021), J Med Genet
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506