JOIN US AT ESHG CONFERENCE 2024 IN BERLIN
June 1-4, 2024
Medicover Genetics is excited to be part of the European Society of Human Genetics 2024 Conference, held in Berlin, Germany from June 01 – 04.
We look forward to welcoming you at booth 450. Our dedicated team of scientists, physicians, sales and product specialists are joining from different parts of the world and are excited to engage in discussions on genetic testing and the unique requirements of each patient, physician and laboratory. Furthermore, we will be sharing with you our latest research during the poster sessions where we will be presenting interesting results and case studies from this past year.
ESHG provides a unique opportunity for our experts to exchange knowledge, and further enhance our commitment to providing cutting-edge genetic diagnostics to physicians, patients and laboratories. Want to know more? Please contact us here.
Please join us at our Corporate Satellite meeting, entitled “From Pre-conception to Postnatal Testing: A Tailored Approach”. The speakers will share their insights on how they have utilized Medicover Genetics diagnostics solutions to optimize the reproductive health journey and the use of whole exome sequencing during pre- and post-natal diagnostics in a clinical setting.
AGENDA
Greetings and Welcome
Dr. med. Hanns-Georg Klein, Germany
Your Partner in Genetic Diagnostics and Laboratory Solutions
Dr. rer. Nat. Stefan Mehrle, Head of Medicover Genetics
Optimizing Diagnostics Solutions to Enhance
the Reproductive Health Journey
Prof. Philippos Patsalis, CEO Medicover Genetics, Cyprus
Reduce Diagnostic Uncertainty with Prenatal Whole Exome Sequencing
Dr. med. Miriam Kinzel
Medical Head, Medicover Genetics, Germany
Postnatal Exome Diagnostics – a Therapeutic Relevance?
Dr. med. Marta Somorai, Clinical geneticist and Head of Rare Diseases,
KBO-Kinderzentrum, Germany
Join our scientists’ poster presentation sessions and explore the most recent research and findings. The poster sessions are scheduled as follows:
| POSTER NUMBER | TITLE | AUTHOR |
| P01.017.A | Development and validation of an expanded comprehensive genomic profiling assay with enhanced variant sensitivity for tumor biopsies | Stephanie Constantinou |
| P01.160.C | Deciphering copy number variations within the complex genomic region of the PMS2 gene using Optical Genome Mapping | Jasmin Maier |
| P02.037.C | Medicover carrier screening– family planning and genetics | Melanie Isau |
| P03.007.C | Prenatal diagnosis of SCN2A -related severe developmental and epileptic encephalopathy 11 by trio exome analysis | Uwe Ahting |
| P03.025.A | Characterization of a complex rearrangement between three chromosomes in a fetus with skeletal anomalies by Optical Genome Mapping | Uwe Heinrich |
| P03.031.C | Development of a non-invasive prenatal diagnostic test for rare monogenic disorders | Styliana Philippou |
| P10.007.B | Truncating ADNP variants as a recurrent monogenic cause of neurodevelopmental disorders | Mirjana Gusic |
| P10.003.D | Causative single nucleotide variants in patients with Mendelian disorders of the epigenetic machinery detected through whole exome sequencing in routine diagnostics | Judith Gottfreund |
| P10.021.D | Optical genome mapping finally unveils the genetic cause of aniridia and intellectual disability in a 17-year-old after seven years of diagnostic odyssey | Wilena Telman |
| P18.003.B | Sequencing synergy: integration of short and long reads for comprehensive pharmacogenetics testing | Sònia Font Tellado |
| EP02.023 | Significance of the sperm DNA fragmentation index (DFI) for male fertility diagnostics – results from more than 800 cases | Michaela Blankenburg |
| EP03.004 | Tissue-specific aneuploidy in mosaic trisomy 18: prenatal and postnatal insights | Rainer Wimmer |
| EP14.044 | Optical genome mapping for comprehensive genomic rearrangement analysis | Julia Flunkert |
| EP24.006 | Finding the right time to initiate genetic diagnostics | Sophie Stoesslein |
