Pioneering the evolution of human genetics research: unraveling hereditary disease and newborn sequencing will be an engaging session featuring distinguished speakers, Alessandra Ferlini, MD, PhD, and Christian Betz, Dr.rer.nat who will discuss advancements in the study of human genetics.
As an accomplished medical geneticist and researcher at the University of Ferrara, Italy, Prof. Ferlini will present her innovative work on “Genetic newborn screening for rare diseases: the Screen4Care project” involving targeted NGS approaches. Attendees will gain insights into the potential impact of the Screen4Care project on our understanding of rare genetic disorders in newborns.
Dr. Betz, as a distinguished scientist and Head of Molecular Genetics at Bioscientia, will present “Roche KAPA HyperExome V2 in routine whole-exome sequencing.” With his expertise in whole-exome sequencing, attendees will understand how advanced NGS technologies, including laboratory automation, can contribute to further advancements in the field of human genetics.
Samantha Dockrall, MSc, International Product Manager for the DNA Library Prep portfolio at Roche Sequencing Solutions will introduce the KAPA EvoPrep and KAPA EvoPlus V2 Kits, our newest tools for NGS Sample Prep. Attendees have the opportunity to learn about their performance and preview data. We look forward to a stimulating discussion on the evolution of human genetics research involving advanced NGS technologies and its impact on unraveling the complexities of hereditary disease.
Genetic Newborn Screening for Rare Diseases: The Screen4Care Project
Speaker:
Alessandra Ferlini, MD, PhD University of Ferrara, Italy
Roche KAPA HyperExome V2 in Routine Whole-exome Sequencing
Speaker:
Christian Betz, Dr. rer. Nat. Bioscientia, Germany
Launch into Your Next Breakthrough with the KAPA EvoPrep and KAPA EvoPlus V2 Kits
Speaker:
Samantha Dockrall, International Product Manager, Sample Prep Reagents Roche Diagnostics, South Africa
