Luis Alberto Pérez Jurado

Group website

Research Outline

The team’s research is focused on the molecular basis of some human neurodevelopmental disorders, integrating clinical and multi-omic research with cellular and animal models with the main goal to provide diagnostic tools and therapeutic strategies for rare diseases. We currently coordinate national initiatives (URDCat/ENoD) to implement personalized genomic medicine into the clinical practice for rare diseases. We also study complex genomic structural variation, both at the somatic and germ cell levels, with a long-term goal to better understand the mechanisms and evolution of genome plasticity and the implications of these structural variants in human disease susceptibility and phenotypic differences.

 

Research Lines

Uncovering the contribution of genetic mosaicism to cerebral palsy causation (Cerebral Palsy Alliance, PG11018, 2019-2021). While the contribution of germline mutation to the etiology of cerebral palsy is currently above 25%, the implication of somatic mutation and epimutation is still unknown and the target of this Project.

 

Genetic determinants and genomic markers of risk in patients with SARS-COV-2 infection (ISCIII-COV20_00622, 2020-21; Coord: Ángel Carracedo). Multinational project aiming to define genetic risk factors for COVID19 severity that may lead to defining personalised management and novel therapeutic options.

 

Implementation of Personalized Medicine based on Genomics for Undiagnosed Neurologic Rare Diseases. The Undiagnosed Rare Disease program of Catalonia (URDCat) (PERIS-SLT002/16/00). Pilot project with participation of 7 Hospitals and 3 research centers, to implement multidisciplinary and genomic-based medicine for diagnosis and personalized treatment of patients with rare neurologic diseases in Catalonia which is leading to important translational results with novel gene discovery and disease definition.


 

Team during 2019-20

PhD students: Mar Costa Roger, Francesc Bou del Pieri, Pau Rodríguez Sodupe, Paula Ortiz Romero

 

Postdocs: Marcos López Sánchez, Carlos Ruiz Arenas, Montserrat Pujadas Lorente

 

Technicians: Raquel Flores Peirats

 

Researchers: Andrés Medrano Muñoz, Patricia Muñoz Cabello, Gemma Aznar Laín

 

Selected publications 2019-20

  1. Cáceres A, Jene A, Esko T, Pérez-Jurado LA, González JR (2020). Extreme down-regulation of chromosome Y and cancer risk in men. J Natl Cancer Inst 112(9):913-920. doi: 10.1093/jnci/djz232. PMID: 31945786

  2. Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA#, Ruiz Pérez VL#, Torrelo A#, Spinner N#, Happle R#, Biesecker LG#, Lapunzina PD# (#co-last authors) (2020). A Six-attribute Classification of Genetic Mosaicism. Genet Med 22: 1743-1755. doi: 10.1038/s41436-020-0877-3. PMID: 32661356

  3. González JR, Ruiz-Arenas C, Cáceres A, Morán I, López-Sánchez M, Alonso L, Tolosana I, Guindo-Martínez M, Mercader JM, Esko T, Torrens D, González J, Pérez-Jurado LA (2020). Polymorphic inversions underlie the shared genetic susceptibility of obesity-related diseases. Am J Hum Genet 106(6):846-858. doi: 10.1016/j.ajhg.2020.04.017. PMID: 32470372

  4. Serra-Juhé S, Martos-Moreno GA, Bou de Pieri F, Flores R, Chowen JA, Pérez-Jurado LA*, Argente J* (*co-last authors) (2020). Heterozygous rare genetic variants in non-syndromic early-onset obesity. Int J Obe 40: 830-41. doi: 10.1038/s41366-019-0357-5. PMID: 30926952

5. Codina-Solà M, Costa-Roger M, Pérez-García D, Flores R, Palacios MG, Cuscó I*, Pérez-Jurado LA* (*co-last authors) (2019). Genetic factors contributing to Autism Spectrum Disorder in Williams-Beuren syndrome. J Med Genet 56(12): 801-8. doi: 10.1371/journal.pgen.1008203. PMID: 31413120

 

Other relevant information 

1- Keynote Speaker, Plenary Section. Congress of the SEEP (Spanish Society of Pediatric Endocrinology), Madrid, Spain 05-2019. Title: Genetics in Pediatric Endocrinology: Changes in Clinical Decision Making. 

 

2- Presentation in late-breaking research Section. European Human Genetics Virtual Conference ESHG 2020.2, June 2020. Title: Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases. 

 

3- Member, International Cerebral Palsy Genomics Consortium (www.icpgc.org) (2018-).

 

4- Member, Clinical Review Committee, Australian Functional Genomics Network (https://www.functionalgenomics.org.au/the-network/who-we-are/) (2019-).

 

Characterization of in vivo differentiated iPSC lines from patients with 7q11.23 duplication syndrome.

 

Circos-plot of genome-wide chromosomal regions of homozygosity of four patients with undiagnosed rare diseases.