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.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D. et al, (2020), Am J Hum Genet, 106, 830 - 845
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350
Identification of mobile retrocopies during genetic testing: consequences for routine diagnosis.
Chatron N. et al, (2019), Hum Mutat
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E. et al, (2019), Am J Hum Genet, 104, 709 - 720