Health in Code at the European
Conference of Human Genetics 2022

The 55th European Society of Human Genetics Conference is held in Vienna from June 11 to 14, 2022, at the Austria Center Vienna. After two years of the pandemic, we really look forward to sharing this experience with all of you, to discuss with experts interesting cases from the world of genetics and evaluate advances in knowledge during scientific sessions.

 

This congress wants to provide a platform for the dissemination of the most exciting advancements in the field of human genetics and to foster the education of the upcoming generation of human geneticists, says Maurizio Genuardi, the President of the ESHG, in his invitation.

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Our oncology, cardiology and medical genetics experts, and our R&D team will be there to answer your questions and offer you clinical advice.

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OUR PROGRAM

DATE: June 12 from 14:15 to 15:45 | WHERE: Level -2, Room G | Symposium

Inés Calabria Health in Code

Reliable Cancer Screening Approaches

Inés Calabria, PhD

Head of the Oncology Department at Health in Code

Our head of the Oncology department will participate in a symposium sponsored by Agilent
She will talk about Action OncoKitDx, a SureSelect custom panel currently used by more than 20 hospitals in Spain that screens the main genes associated with solid tumors for mutations, CNVs, DNA fusions, microsatellite instability, and variants of pharmacogenetic relevance.
Moreover, she will touch on how this technology can be used in hereditary cancer, liquid biopsy, and oncohematology.

DATE: From June 11 to June 13 | WHERE: Poster Hall X3 | Poster

Laura Cazón Health in Code

Contribution of SCN5A copy number variations to the genetic diagnosis of Brugada syndrome

Laura Cazón Varela, MSc

Genetic Analyst at Health in Code

Laura Cazón Varela, one of our experts in molecular genetics, will present a poster with the results of a study she worked on together with other members of the Health in Code team. Laura will make the poster exhibition on June 12 from 13:00 to 14:00.
The aim of the study was to determine how copy number variation in the SCN5A gene contributes to the genetic diagnosis of Brugada syndrome (BS).
She and the team analyzed data obtained from the NGS sequencing of 977 patients with suspected BS, using our proprietary pipeline for variant filtering and classification.

DATE: From June 11 to June 14 | TOPIC: Neuromuscular disorders | Digital only poster

A synonymous substitution in the VMA21 gene cosegregating with a severe neonatal form of x-linked myopathy with excessive autophagy (XMEA)

Patricia Blanco, PhD

Neurogeneticist at Health in Code

Patricia Blanco, one of our experts in neurogenetics, will present a digital poster that will be available throughout the congress and will be published in the electronic supplement of the European Journal of Human Genetics.
The aim of the study was to set up the molecular diagnosis of a pedigree with 4 males affected by a severe neonatal myopathy in which the muscle biopsy was indicative of X-linked myopathy with excessive autophagy (XMEA) and Sanger sequencing had previously yielded a synonymous variant candidate in the VMA21 gene to explain this phenotype. A family study and further sequencing allowed reinterpretation of his variant according to current knowledge and guidelines.

See you in Vienna!

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