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We celebrate our first anniversary with a summary of the year

20/12/18 - DBGen, Genetic Diagnosis,

In January 2018, Dr. Roser Gonzàlez-Duarte and Dr. Gemma Marfany founded DBGen Ocular Genomics, a spin-off of the University of Barcelona. Their goal was to approach the genetic diagnosis of ocular hereditary diseases with the highest scientific standards. DBGen Ocular Genomics was born from the experience of more than 25 years of research on the genetic and molecular bases of inherited retinal diseases with the aim to provide high yield and affordable genetic diagnosis to secure the clinical diagnosis, establish a reliable prognosis and identify the type of inheritance of the disease.

Genetic diagnosis is essential to provide genetic counseling prior to prenatal or preimplantation diagnosis, the necessary step to identify asymptomatic carriers who could transmit the defective gene to their progeny and the unavoidable prerequisite to access to the emerging gene therapies currently under development or in clinical trial status.

The company has made substantial progress company in different areas. Here we show the main achievements.

DBGen advances in genetic diagnosis

For the genetic diagnosis of ocular inherited disorders, DBGen uses two strategies of next-generation sequencing: whole exome sequencing (WES) and targeted gene sequencing panels. The whole exome allows sequencing all the coding regions of the genome and is appropriate when the patient’s clinical diagnosis is unclear. Through WES new genes causing inherited eye diseases can be identified. On the other hand, targeted gene sequencing panels allow the analysis of previously selected genes, grouped according to their association with different clinical entities. This strategy compared to WES allows identifying a wider range of genetic variants, simplifies the subsequent bioinformatics study and it can be offered at a reduced cost. DBGen offers a “Complete Panel of Retinal Dystrophies and Other Eye Diseases” and 13 specific panels.

During this year we have optimized three of our panels, including genes recently associated with inherited eye diseases and expanded the list of diagnosed disorders, including the known genes of open-angle glaucoma. The incorporation of newly described genes in our diagnostic panels has made it possible to increase the diagnostic yield, reaching levels above 80%.

At the beginning of 2019, we will offer an updated version of the “Complete Panel of Retinal Dystrophies and Other Eye Diseases” that will include 14 new genes and will design new panels.

Our team

The team of professionals that constitute DBGen, which includes scientists specialized in genetics from the University of Barcelona, qualified technicians and experts in communication and management (https://dbgen.com/equipo/), has expanded this year with the addition of two new people:

Rebeca Valero, Ph.D. in Genetics, with extensive research experience in genetics, particularly in the identification of new genes and functional characterization of new mutations causing inherited eye diseases.

Gema Blasco, a laboratory technician with extensive experience in molecular diagnostic methodologies and the implementation of genetic, biochemical and microbiological research tools.

Research

This year Dr. Marta de Castro Miró, member of DBGen, was awarded with the Torres Quevedo Program fellowship (2018) (PTQ-17-09285). The purpose of this program is the promotion of talent and its employability in companies and competitive R&D spin-offs.

Scientific publications:

De Castro-Miró, M., Tonda, R., Marfany, G., Casaroli-Marano, R. P., & Gonzàlez-Duarte, R. (2018). Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol. 102(10):1378-1386. doi: 10.1136/bjophthalmol-2017-311427. Epub 2018 Jan 24.

Gonzàlez-Duarte, R., De Castro-Miró, M., Tuson, M., Ramírez-Castañeda, V., Valero, R. & Marfany, G. (2018). Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies. XVIIIth International Symposium on Retinal Degeneration (RD2018). (In revision).

Contribution to meetings

DBGen Ocular Genomics has contributed to a substantial number of scientific meetings with two aims, 1. to present research conducted by our scientific team and 2. to introduce our diagnostic services to clinical specialists.

International events:

  • XVIIIth International Symposium on Retinal Degeneration RD2018 (in Killarney, Ireland)
  • International Symposium: Applications of gene editing on research and therapy of human rare diseases (in Madrid)
  • Proteostatic Mechanisms in Health and Disease, BM1307 Meeting (in Athens, Greece)
  • European Human Genetics Conference ESHG 2018 (in Milan, Italy)

Spanish events:

  • XXIIth Spanish Society of Retina and Vitreous Congress (in Santander)
  • 94th Spanish Society of Ophthalmology Congress (in Granada)
  • Day of Retinopathies and Low Vision (in Cantabria)
  • 2nd Catalan Interhospital Meeting on Genetics
  • Presentation at the University Hospital Son Espases
  • CIBERER Sensorineural Pathology Scientific Meeting (in Madrid)
  • IV Bioinformatics and genomics meeting (in Barcelona)

In order to bring our services closer to ophthalmologists, we have participated as exhibitors in:

  • 36th World Ophthalmology Congress (WOC2018, in Barcelona)
  • XXVIth Spanish Society of Pediatric Ophthalmology and Strabismus Congress (in Tarragona)
  • 2nd Catalan Interhospital Meeting on Genetics

New patients and specialists

Aiming to expand DBGen diagnostic activity, we have established novel alliances with renown ophthalmologists in Chile and Mexico, among other Latin American countries. DBGen Ocular Genomics wants to consolidate its presence and continue growing in the coming years.

We thank all the people who have accompanied us during this year, and we invite you to share our achievements in the coming year.

 

 

 

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