Dr. Amélie Bonnefond, Director of Research, Lille Pasteur Institute
Diabetes affects 420M patients worldwide. Type 2 diabetes (T2D) that represents more than 90% of all diabetes forms is a complex polygenic disorder. Genome-wide association studies have identified >200 loci associated with T2D risk. However, the translation of these discoveries into advances in precision medicine has been very modest. In contrast, genetic investigation of monogenic forms of diabetes has revealed several key regulators of insulin secretion, leading to textbook cases of precision medicine. By resequencing genes linked with monogenic diabetes in a large case-control study, we found that pathogenic variants were significantly associated with increased T2D risk. This association was mostly explained by mutations detected in actionable genes. Cases carrying a pathogenic variant did not present with classic monogenic diabetes-like phenotypes. These results opened a gateway for precision diabetes in common T2D, via the systematic molecular diagnosis of newly diagnosed patients. We are currently screening pathogenic mutations in genes linked with monogenic diabetes in 4,000 T2D patients from the Endocrinology department of Liège University Hospital (Belgium), headed by Prof Nicolas Paquot. For this purpose, we are using the Roche KAPA HyperExome Probes. I will show the performance of this new solution during the talk.
Dr. Allessandra Terracciano, Senior Clinical Molecular Laboratory Scientist, Ospedale Pediatrico Bambino Gesù
Dr. Terracciano will demonstrate the importance of Whole Exome Sequencing in identifying novel gene mutations in familial epilepsy research. Dr. Terracciano will show how automation can improve her laboratory's workflow, delivering high quality results and allowing her team to advance their research and improve the laboratory's efficiency.
Dr. Shawn Levy, Faculty Investigator, HudsonAlpha Institute for Biotechnology
Dr. Ellen Heitzer, Associate Professor, Institute of Human Genetics, Medical University of Graz
Currently, response evaluation for cancer treatment consists primarily of clinical and radiological assessments, which can be costly and may increase the radiation burden for the patient, when continuously performed. Recently it has been demonstrated that cell free circulating tumor DNA (ctDNA) might reflect the total-body tumor burden, which is why molecular ctDNA responses might correlate with clinical response to treatment. We have conducted several studies with patients suffering from solid tumors to assess whether changing levels of ctDNA can predict immediate or long-term responses to treatment. In this talk, results from studies of metastasized breast cancer patients under CDK4/6 treatment, NSCLC patients treated with immune checkpoint inhibitors or localized breast cancer patients receiving neoadjuvant treatment will be discussed.
Dr. Stephanie Yaung, Director, Medical Affairs for Pharma Services, Roche Sequencing Solutions
Next-generation sequencing (NGS) has enabled the simultaneous analysis of multiple genomic alterations with therapeutic implications for patients with cancer. As NGS results grow in volume and complexity, and medical guidelines and evidence continue to evolve, decision support systems can aid in variant interpretation and reporting. In this talk, our speaker will discuss how NAVIFY® Mutation Profiler, a CE-IVD somatic variant interpretation tool, can help automate annotation and presentation of clinically relevant information to reduce the complexity of NGS results.
If you are not attending ESHG and would like to learn more about these topics, please contact your local Roche or visit go.roche.com/ESHG2021.
For Research Use Only. Not for use in diagnostic procedures.
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