About our research

Our research aims to advance the understanding of inherited retinal diseases (IRDs) by developing innovative disease models and exploring novel therapeutic strategies. We focus on using post-mortem human retinas, human induced pluripotent stem cells (hiPSCs), and retinal organoids to create accurate disease models that replicate the cellular and molecular mechanisms underlying retinal degeneration. Through this, we aim to identify therapeutic targets that could slow or prevent vision loss in individuals with IRDs, with a particular emphasis on the EYS gene, one of the most prevalent cause of retinal dystrophy in Portugal.

Additionally, our work integrates clinical, basic, and translational research, emphasizing the bridge between laboratory discoveries and patient care. In collaboration with clinicians like Dr. João Pedro Marques, Head of the Retinal Dystrophies Clinic at the Coimbra Academic Hospital Center, we have access to a large cohort of patients, enabling us to conduct natural history studies and apply patient-reported outcome measures. Our ultimate goal is to develop new disease models and therapies that address the needs of individuals affected by retinal dystrophies, with a focus on translating our scientific discoveries into treatments that can significantly impact patients' lives.

In our lab, we utilize a wide range of molecular biology and advanced research techniques, including:

Molecular Biology Techniques:

• Gene editing (CRISPR/Cas9, CRISPR-Cas9-mediated homology-directed repair, Prime Editing)

• DNA and RNA isolation and purification

• RT-PCR, RT-qPCR for gene expression analysis

• Cloning in vectors and plasmid production

• Western blotting for protein analysis

• Immunohistochemistry and immunocytochemistry

• AAV-mediated gene delivery in retinal cells

Advanced Microscopy:

• Confocal laser microscopy

• Fluorescence microscopy

• Live imaging microscopy for dynamic cellular studies

Vision Sciences Techniques:

• Electroretinography (ERG) to measure retinal function

• Optical coherence tomography (OCT) for detailed retinal imaging

• Optomotor response analysis (PhenoSys qOMR)

• Retinal fundus imaging to monitor disease progression

• Ocular administration of drugs/AAV in small rodents (intravitreal and subretinal injections)

Immunology Techniques:

• Flow cytometry for immune cell profiling

• ELISA for detecting inflammatory markers and cytokines

We are always looking for young, motivated (international) students eager to learn and work with these advanced techniques. Our lab offers a unique opportunity to gain hands-on experience in molecular biology, disease modeling, and translational research. If you are passionate about vision science and want to contribute to impactful research, we encourage you to join our team and develop your skills in a collaborative, multidisciplinary environment.