Contact information
Research groups
Eduardo Calpena Corpas
PhD
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.
Recent publications
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.
Journal article
Tenorio-Castano J. et al, (2026), Clin Genet
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.
Journal article
Pei Y. et al, (2025), Genome Med, 17
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Journal article
Maroofian R. et al, (2024), HGG Adv, 5
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal article
Pagnamenta AT. et al, (2024), Am J Hum Genet, 111, 1140 - 1164
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15