Human Molecular Genetics II

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Institut de Biomedicina de la UB (IBUB)

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Our primary research ambition over the past few decades has been to identify new causative genes of paediatric/juvenile hereditary blindness, particularly inherited retinal diseases (IRD) and the functional analysis of these in vitro and in vivo in animal models.

Dr Gemma Marfany has recently co-founded a company for the diagnosis of genetic eye diseases (DBGen Ocular Genomics).

Over the years, the research team has generated and characterised models of retinal degeneration in cell cultures, as well as in zebrafish, mice (by gene editing) and in human iPSc-derived retinal organoids.

We are members of the Centre for Biomedical Network Research on Rare Diseases (CIBERER)  and the Institute of Biomedicine of the University of Barcelona (IBUB). We are extremely active in disseminating science to the general public and maintaining close contact with patient associations.

Also, academically, we remain actively involved in training and mentoring of new researchers.

Research lines

  1. Genetic-molecular diagnosis by identifying IRD causative mutations by whole exome sequencing (WES) and candidate genes (target gene sequencing).
  2. Functional analysis of candidate genes, such as ATXN3 (associated with Machado-Joseph disease), NR2E3 (transcription factor required for photoreceptor differentiation) and CERKL (gene, with unknown function, discovered by our group) in cell and animal models. To accomplish this, we generated gene over-expression and silencing models in cultured cells and knockdown animals (zebrafish), in knockout mice using the Cre/loxP system and in mice models generated by CRISPR/Cas9 gene editing. We study the phenotype at electrophysiological, molecular and cellular levels.
  3. We also collaborate with other recognised research groups to generate organoids from patient- and control-derived iPSCs to study the molecular basis of blindness in a physiological model.

Scientific objectives

  1. To identify new genes implicated in hereditary dystrophies using whole-genome sequencing.
  2. To conduct research and design new approaches to improve genetic diagnosis in complex cases (detection of copy number variations, identification of deep intronic and promoter mutations, mitochondrial DNA analysis and heteroplasmy, etc.)
  3. To carry out the functional analysis of new genetic variants identified in the diseases we investigate.
  4. To establish the molecular basis of disease progression in organotypic mouse models and iPSc-derived organoids. To phenotype mice generated by different methodologies.
  5. To phenotype the retina of animal models using high-resolution microscopy.
  6. To explore, as a proof of concept of a possible gene therapy, the efficiency of gene transfer and phenotypic rescue in mouse retina using nanoparticles.

Area/Field of expertise

Our greatest accomplishment as a research group is the knowledge gained on the genetic and molecular causes of retinal degeneration in hereditary blindness. Our areas of specialisation are: 1) prioritising genetic variants after mass sequencing (WES and target gene sequencing) to identify mutations, and 2)  conducting functional analysis of identified mutations in either cell or animal models. We have the capacity and know-how to conduct genetic transfection with gene silencing or over-expression, immunodetections, immunohistochemistry, co-immunoprecipitation, post-translational modifications and image analysis. We also use RNA extraction techniques and real-time quantitative RT-PCR expression analysis, alternative splicing analysis and deep-intronic mutation effects. We have experience in primary neuronal cultures and tissue explants, generation of transgenics in zebrafish embryos and temporary transgenics by subretinal microinjection in mouse retina.

Our specialisation focuses on the genetic and molecular biology of hereditary ocular diseases, specifically those that cause retinal neurodegeneration.

Group members

Last Publications

More Publications


  • High-throughput methodologies for the identification of novel genes and mutations responsible for retinal dystrophies. Functional study of new candidates
    De Castro Miró, Marta
  • Estudi del coenzim Q10 en pacients neuroediatrics; avenços diagnòstics i identificació denoves causes d'alteracioins secundaries.
    Yubero Siles, Délia
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