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Revolution in Genetic Diagnosis, our contribution to Barraquer magazine

PhD. Roser Gonzàlez and PhD. Gemma Marfany, founders and directors of the company DBGen Ocular Genomics, were invited to participate as columnists of the issue 32 of the Barraquer Ophthalmology Center magazine.

Their contribution was dedicated to the genetic diagnosis of inherited eye diseases, emphasizing aspects such as the importance of new technologies:

“Massive sequencing of the whole gene or specific genetic regions has completely revolutionised the genetic diagnosis of many pathologies. This is particularly true for eye diseases as they are three times as rare, difficult to diagnose and caused by many different genes. With the knowledge acquired over many years, geneticists can identify the gene responsible for the pathology and inform the patient of emerging cell and gene therapies in record time and at a reasonable cost”. 

Other aspects mentioned were research and innovation in emerging therapies for patients with inherited eye diseases:

“In addition to the insertion of a correct copy of the mutated gene, targeted therapies include other molecular strategies such as molecules aimed at silencing errors (antisense oligonucleotides or AONs) or direct correction (to the chromosome) of the mutilation (genome editing). The number of gene and cell therapy trials and combined trials—now at their clinical stage—for the treatment of eye diseases should not be overlooked”.

DBGen is the provider of genetic diagnoses in the Barraquer Ophtalmology Center since 2016. This collaboration has been very satisfactory for both parties, as Dr. Jeroni Nadal and Dr. Juan José Rodríguez Ezcurra mention:

“The team at DBGen is fully committed to apply their long-standing experience and expertise to study the diagnoses of inherited visual disorders. They combine successfully the latest advances in the field with state-of-the-art massive sequencing to offer high yield genetic diagnosis, even in difficult cases. Top added value of this company is the merging of high professionalism with close interaction with physicians and patients”.

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