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.
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Zhou Y. et al, (2018), Hum mutat, 39, 1360 - 1365
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A. et al, (2018), Am j hum genet, 103, 305 - 316
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF. et al, (2018), Am j hum genet, 102, 1195 - 1203
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Vasileiou G. et al, (2018), Am j hum genet, 102, 468 - 479
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
Calpena E. et al, (2018), Dis model mech, 11