53rd Annual European Society Human Genetics Meeting

In light of the current Coronavirus outbreak, the European Society Human Genetics (ESHG) Annual Meeting will take place virtually – fostering human genetics advancements, while keeping the health and safety of participants at the forefront.

Join CENTOGENE at our digital booth on the ESHG platform and gain insights from our on-demand presentation.

Presentation Accessibility: 6-23 June 2020

If you are unable to attend ESHG, you can still drop by our <link>virtual booth here!


The comfort of your living room


Prof. Arndt Rolfs, CENTOGENE CEO and Founder
Prof. Peter Bauer, CENTOGENE Chief Genomic Officer

Presentation Overview

Leveraging Medical Expertise to Fight the COVID-19 Pandemic

As the COVID-19 outbreak began to greatly impact our global society, medical companies were forced to rapidly respond ─ keeping patients at the core of their actions, while being called to develop medical solutions amid this pandemic. Join Prof. Arndt Rolfs and Prof. Peter Bauer as they share insights from a successful COVID-19 response ─ highlighting a series of initiatives to prevent a further outbreak of the Coronavirus, while continuously supporting their rare disease patients. Throughout the presentation, they will dive into the logistics and obstacles of developing a high-throughput, high-quality diagnostic test, as well as discuss the potential role genetics may be playing.

Key Points

  • Keeping an unwavering commitment to patients
  • Leveraging expertise & infrastructure to create rapid solutions
  • Developing an end-to-end solution amid global shortages
  • Challenges of successfully setting up a COVID-19 laboratory
  • Spearheading genetics research to unlock the mysteries surrounding COVID-19

Please note that attending the ESHG Virtual Conference requires registration. For further information, please visit: <link https:>2020.eshg.org

Want to find out more about CENTOGENE’s COVID-19 Initiative?

To book a virtual meeting in advance contact <link>Eduard Garcia.

Don't miss CENTOGENE’s scientific poster contributions!

You can also look up on of our many poster presentations also available on the virtual ESHG event platform from 6 June 2020 at <link https: virtualcongress.ctimeetingtech.com eshg2020 attendee eposter_1>virtualcongress.ctimeetingtech.com/eshg2020/attendee/eposter_1:


  • Genomic testing in more than 1,000 individuals from Pakistani families results in high diagnostic yield and remarkable clinical impact (A. Bertoli-Avella, et al.)
  • Identification of AADC patient through combined determination of 3-OMD biomarker and DDC gene sequencing and copy number variation analysis (C. Pereira, et al.)
  • Comprehensive characterization of a large cohort of patients with Niemann Pick disease (P. Guatibonza, et al.) 
  • An NGS-based approach for the detection of GBA variants including recombinations with the pseudogene GBAP (N. Ameziane, et al.)
  • Biallelic loss of function GFRA1 variants cause bilateral renal agenesis (S. Khan, et al.)
  • Overcoming pitfalls in the genetic diagnosis of the Koolen-De Vries syndrome (N. Ordonez-Herrera, et al.)

Best Posters Virtual Session

Virtual Room 3, 7 June 2020, 5:27-5:30 p.m. CEST
Combined exome/genome sequencing with in-house variant data repository mining confirm USP53 as a causal gene for intrahepatic cholestasis
presented by S. Alawbathani

Collaboration with the following scientific projects

  • ADAMTS19 associated heart valve defects: novel genetic variants consolidating a recognizable cardiac phenotype (S. Massadeh, et al.)
  • Lacrimo-auriculo-dento-digital LADD syndrome: first case report of a Georgian patient (T. Tkemaladze, et al.)
  • Identification of a novel PRUNE1 gene mutation in a patient with severe neuro-developmental disorder characterized by hypotonia and epileptic encephalopathy (L. Lazaros, et al.)
  • Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy (N. Kaya, et al.)
  • Biallelic JAM2 variants lead to early-onset recessive primary familial brain calcification (L. V. Schottlaender, et al.)
  • Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases (E. Perenthaler, et al.)