The European Human Genetics Conference 2025
Blueprint Genetics will be attending The European Human Genetics Conference
This meeting takes place on May 24-27, 2025 in Milan, Italy. ESHG offers an opportunity for the medical genetics community to come together and learn about both research and clinical updates that inform their daily practice. Come and join us to find out what’s shaping the future of genetics and genomics!
Visit our team at booth #216 to hear about the latest developments at Blueprint Genetics.
Our program
Satellite Session: Saturday, May 24, 12:15 – 13:30
Location: Amber 5 & 6, level 2
Empowering Precision Medicine: The power of WES, mitochondrial analysis, WGS and screening
Unlocking answers for patients: How optimized whole-exome sequencing takes the lead
Whole-exome sequencing (WES) is a powerful diagnostic tool, particularly valuable in complex cases and situations where previous genetic testing has been inconclusive. In this presentation, Dr Kirsty Wells will showcase cases solved by an optimized whole-exome sequencing assay that includes custom targeted noncoding variants, high depth coverage, advanced CNV detection, and AI-driven variant prioritization. Additionally, the significance of skilled interpretation and up-to-date gene-disease associations will be emphasized. Dr Wells will demonstrate how high-quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases.
Presented by: Kirsty Wells, PhD, Senior Geneticist
Beyond the nucleus: Combining WES with mtDNA analysis
Defects in mitochondrial DNA (mtDNA) lead to dysfunction of the mitochondrial respiratory chain, resulting in disorders that vary in phenotype, affected tissue(s), and severity, making diagnosis challenging. In this talk, Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting. Through compelling case examples, Dr Raquel Pérez will demonstrate the clinical impact of this comprehensive testing approach.
Presented by: Raquel Pérez Carro, PhD, Geneticist
Era of clinical genome: WGS analysis with variant prioritization tool
Whole-genome sequencing (WGS) is a powerful tool for genetic testing as it provides the highest diagnostic yield when the different types of variants are called accurately, variant QC filtering is not too aggressive, and variant prioritization tools work as intended. Dr Juha Koskenvuo will present Blueprint Genetics’ perspective on WGS.
Presented by: Juha Koskenvuo, MD, PhD, Executive Director of Medical & Lab Director
Genetic screening tests: A step toward precision medicine
Genetic screening testing is a rapidly evolving field that helps to support medical management with early disease detection and prevention. Proactive screening typically tests genes associated with genetic conditions identified as medically actionable, such as cancer, cardiovascular, and metabolic conditions, where early identification may provide an opportunity for a treatment that can improve outcomes. Reproductive screening gives individuals and/or couples an estimate of their chances of having a child affected with an autosomal recessive or X-linked condition. With this information, individuals or couples can discuss with their healthcare provider to make informed decisions about their reproductive planning. Dr Lotta Koskinen will discuss Blueprint Genetics’ approach to screening tests and the laboratory’s experience in providing global testing.
Presented by: Lotta Koskinen, PhD, Associatiate Laboratory Director
Poster Presentations
Genetic findings in over 500 individuals tested with a spastic paraplegia gene panel (P12.042.B), presented by Uxía Esperón Moldes, PhD
Date & Time: May 25 at 16:00-17:00 CEST (Group B)
Genetic Findings in a Cohort of Over 2,300 Individuals with Clinically Suspected Heritable Thoracic Aortic Disease (P07.006.C), presented by Emma Mårtensson, PhD
Date & Time: May 26 at 13:00-14:00 CEST (Group C)
Meet the experts – Q&A sessions at the booth:
Stop by our booth #216 to ask a question!
Saturday, May 24, 10:00-11:00
New: Ask us about our Sequencing Services for your next research project.
Meet our expert: Executive Director of Medical & Lab Director, Juha Koskenvuo, MD, PhD at our booth #216
Saturday, May 24, 15:00-16:30
Ask us about our Reproductive and Proactive Screening Tests
Meet our expert: Associate Laboratory Director, Lotta Koskinen, PhD at our booth #216
Sunday, June May 25, 12:00-13:00
Ask us about our Whole Genome Sequencing
Meet our expert: Executive Director of Medical & Lab Director, Juha Koskenvuo, MD, PhD at our booth #216
Sunday, May 25, 15:30-17:00
Ask us about our Whole Exome Sequencing
Meet our expert: Senior Geneticist, Kirsty Wells, PhD at our booth #216
Interested to learn more?
- Browse our genetic tests: Panels and Whole Exome Sequencing
- Access our latest publications and webinar archive
Our team is looking forward to meeting you!
We will be available to discuss Blueprint Genetics’ latest updates at this event – be sure to stop by our booth #216 during the conference!
