Human Molecular Genetics I

We are a group of four senior researchers and post-doctoral and pre-doctoral researchers. We are currently investigating the genetic and molecular causes of rare and common diseases with a view to generating new models and therapeutic approaches for these diseases.

We have been recognised as a consolidated group by the Government of Catalonia (2017 SGR 738) and are members of CIBERER (Centre for Biomedical Network Research on Rare Diseases) (U720 - CB06 / 07/0076) and the Institute of Biomedicine at the University of Barcelona.

Research lines

  1. Lysosomal storage diseases (Gaucher, Sanfilippo, Niemann-Pick C).
  2. Bone diseases (osteoporosis, atypical femoral fractures, osteogenesis imperfecta).
  3. Intellectual disability (Opitz C, Schaaf-Yang, FOXP1, TRAF7, TRIM28 and related syndromes).
  4. Sézary syndrome.
  5. Neuropsychiatric/neurovascular disorders (autism spectrum disorders, attention deficit hyperactivity disorder, drug dependence, migraine, aggression, ischaemic stroke and obsessive-compulsive disorder).

Scientific objectives

  1. Lysosomal storage diseases: To generate cell models for Sanfilippo Syndrome through CRISPR/CAS9-based genomic editing on induced pluripotent stem cells (iPSc) derived from fibroblasts of healthy individuals. To conduct substrate reduction therapy assays using RNA interference on neurons and astrocytes derived from iPSc obtained from fibroblasts of Sanfilippo type C patients. To find a cure for the Niemann-Pick C mouse model with a pseudoexon-generating mutation using antisense oligonucleotides.
  2. Bone diseases: To identify variants of the Wnt pathway genes implicated in osteoporosis and to conduct a functional analysis of these. To analyse the FLJ42280 gene and regulatory variants in the genomic region to discover how it relates to osteoporosis as demonstrated in genome-wide association studies (GWAS). To functionally analyse mutations identified in patients with osteogenesis imperfecta.
  3. Intellectual disability: Using exome or genome sequencing, investigate new cases without molecular diagnosis to identify the causative gene. Functional studies of MAGEL2 and TRAF7 genes.
  4. Sézary syndrome: To study, using next-generation sequencing (NGS), the variations of T cell receptors in Sézary patients and to study the pathogenic mechanisms by integrating methylation, exome and transcriptome data and focusing on the involvement of the JAK/STAT pathway.
  5. Ischaemic stroke: To use sequencing to identify the genetic variants modifying stroke response and recovery aimed primarily at patients with different functional responses.
  6. Neuropsychiatric diseases: To actively contribute to the characterisation of the genomic landscape of susceptibility to drug dependence, particularly cocaine, in the context of the Psychiatric Genomics Consortium. Phenotypic and molecular characterisation (transcriptomic, epigenetic) of different animal models (mouse, zebrafish) of psychiatric disorders (autism, food or cocaine addiction and aggression). Genetic and functional studies of genes involved in psychiatric phenotypes. Obsessive-compulsive disorder: identify rare and/or de novo genetic variants in patients with obsessive-compulsive disorder.

Area/Field of expertise

The research carried out by our group forms part of the study of the genetic basis of rare and complex diseases. Our main focus is on disorders associated with lysosomal storage, bone, psychiatric and intellectual disability from the perspective of identifying the implicated genes, generating models and new therapeutic approaches.

We have applied very different methods and techniques, depending on the type of pathology. These include, for example, Sanger sequencing, linkage analysis, multiplex ligation-dependent probe amplification (MLPA), genome-wide association study (GWAS), transcriptomics and exome sequencing, genome editing with CRISPR/Cas9 technology, circular chromosomal conformation capture (4C) or iPSc generation.

Some of our most outstanding accomplishments in recent years include: the generation of a neuronal model derived from iPSc for Sanfilippo C disease; the identification of the GGPS1 gene as a possible cause of atypical femoral fractures in patients on bisphosphonates; the identification of rare variants (copy number variations [CNVs] and point mutations) for the risk of autism; or the identification of MAGEL2 and FOXP1 as the genes responsible for the pathology in two patients initially diagnosed with Opitz C syndrome.

Group members

Last Publications

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Project name:
Therapeutic correction of tyrosine hydroxylase deficiency (THD): a neuropediatric disorder of dopamine synthesis and a model of parkinsonism”.
MªAngels García Cazorla, Bru Cormand Rifà
Funding entities:
Hospital Sant Joan de Déu - Esplugues HSJD
Starting - finishing date:
2019 - 2022
Project name:
GENIUS: GENetic Influences on functional oUtcome after Stroke
Raquel Rabionet Janssen
Funding entities:
Fundació La Marató de TV3
Reg. 70/307 Proj. 201726
Starting - finishing date:
2018 - 2021
More projects


  • Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disorders
    Castilla Vallmanya, Laura
  • Genetic and functional analyses of Autism Spectrum Disorder and ADHD
  • Shared and specific genetic basis of autism spectrum disorders and ADHD
    Shivalikanjli, Anu
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