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
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Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Journal article
Tooze RS. et al, (2023), Genes, 14, 615 - 615
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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Journal article
Tooze RS. et al, (2022), J Med Genet
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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.
Journal article
Lippincott MF. et al, (2022), Genet Med
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Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Conference paper
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Journal article
Tessadori F. et al, (2022), Am J Hum Genet