A new year begins and DBGen wants to commemorate the arrival of the New Year by highlighting the main professional events and advances and acknowledging the contribution of all our patients and collaborators .
At DBGen we stand firmly in our commitment to offer high-quality, reliable and affordable genetic diagnosis. One year more, we have renewed the ISO9001:2015 quality certification and await the certificate granted by GenQA’s Eye Disorders 2022 program.
The Catalan Society of Biology has awarded the «SCB Leandre Cervera Professional Career 2022» to Dr. Roser Gonzàlez-Duarte, co-founder of DBGen, in recognition of her professional trajectory in human genetics research focused on vision pathologies.
Research and Outreach:
To disseminate the last advances in research of retinal dystrophies members of the DBGen team have contributed with the following presentations in meetings and seminars:
- “NGS technologies (targeted gene panels, WES and WGS) as a turning point for genetic diagnosis of ocular diseases”. Valero R., et al. EuRetina 2022. September 1-4, 2022.
- “Leber’s Congenital Amaurosis by RPE65 in Argentina”. Ciccioli, M. et al. 9th Congress of the Pan-American Society of Retina and Vitreous. November 15-18, 2022.
- «Revisiting Mendel: Massive sequencing and the genetic diagnosis of rare diseases». Gemma Marfany, PhD (co-founder of DBGen) has contributed with a seminar to celebrate the bicentennial of Gregor’s Mendel birth “the father of genetics” at the Faculty of Biology, University of barcelona, December 13, 2022.
DBGen has also contributed as a sponsor to the VII Annual Conference of the Spanish Genetic Counseling Society held at the Vall d’Hebrón Hospital (October 21, 2022).
DBGen continues to bet on diagnostic quality and is an international reference in the genetic diagnosis of ocular pathologies. DBGen achieves a diagnostic yield higher than 80%.
DBGen keeps up with conceptual and methodological advances, and has just updated the panels for the diagnosis of cataracts, albinism, and anterior segment dysgenesis and dystrophies.
Two new panels will be added to the 2023 portfolio: the strabismus panel and the high myopia panel.
Finally, we would like to thank patients and families, patient associations, ophthalmological institutions, medical professionals specialized in ocular pathologies and all the medical community committed to genetic diagnosis and patient management as they are indispensable for advancing in personalized treatments and therapies.