European Society of Human Genetics Conference

28 AUGUST 2021 31 AUGUST 2021 ESHG 2021

Virtual Conference  

Join us at the European Society of Human Genetics (ESHG) conference to be among some of the first to hear about our latest innovation to advance NGS automation. Please visit our sponsorship page on the ESHG website to learn more about this exciting product reveal, as well as some of our newest products in Roche Sample Prep solutions, such as the new KAPA target enrichment portfolio. Ask to speak live with a Roche representative to learn more about our streamlined solutions to increase sequencing efficiencies, minimize hands-on time, and improve turnaround times.

Join us at our Corporate Satellite Events


Monday, 30 August, 12:00 CEST

Lead the frontline of clinical research with Whole Exome Sequencing  

Dr. Amélie Bonnefond,
 Director of Research, Lille Pasteur Institute

The genetics of type 2 diabetes at the bedside via next-generation sequencing

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

Clinical exome sequencing in the diagnosis of pediatric diseases: A semiautomated workflow

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

Scaling exome sequencing for oncology: Implications for quality, consistency and economy


Monday, 30 August, 20:15 CEST

Opportunities in precision oncology: liquid biopsy and interpretation software


Dr. Ellen Heitzer, Associate Professor, Institute of Human Genetics, Medical University of Graz

Identification of actionable targets from circulating tumor DNA using different decision support platforms

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

Decision support software for variant interpretation and reporting in somatic oncology

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.


Speaker biographies


Amélie Bonnefond, PhD

Director of Research, Lille Pasteur Institute

Dr. Amélie Bonnefond is Director of Research (DR2-Inserm) at UMR INSERM 1283, CNRS 8199, Pasteur Institute and University of Lille. She heads a team tackling “Metabolic functional (epi)genomics and their abnormalities in type 2 diabetes and related disorders”, currently including 12 researchers and/or clinicians, 4 post-doc fellows, 4 PhD students, and ~25 engineers for next-generation sequencing, functional genomics, statistics, IT and bioinformatics. She is the current scientific director of the PIA funded EquipEx LIGAN-PM platform dedicated to next-generation sequencing. She is a visiting professor at Imperial College London where she teaches in several Master courses. She was laureate of the prestigious Rising Star award from European Association for the Study of Diabetes (EASD), the Auguste Loubatières award from the French-speaking Association for Diabetes (SFD), and a European Research Council Starting Grant.

Allessandra Terracciano, PhD

Medical Genetics Laboratory, Bambino Gesu Children's Hospital, Rome, Italy

Dr. Terracciano graduated from the University of Naples, Italy, in 2001, and from 2002 to 2006 she was a Research Fellow at the Institute of Medical Genetics of the Catholic University in Rome, investigating the reactivation of the fragile X-gene and X-linked mental retardation. She completed her postgraduate training in Medical Genetics in 2005. In 2006, Dr. Terracciano started her post-doctoral Fellowship at the Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disease at the Bambino Gesù Children’s Hospital, focusing her interest on degenerative diseases, such as recessive cerebellar ataxias. In 2009, she started an inter-departmental collaboration with the Neurology Unit of the Bambino Gesù Children’s Hospital for the molecular characterisation of epileptic encephalopathy and genetic forms of epilepsy.

Dr. Terracciano’s research interests include the genetics of epilepsies (severe paediatric myoclonic epilepsy, autosomal dominant cortical tremor and epilepsy, idiopathic generalised epilepsies, and febrile seizures), and the genetics of muscular and neurodegenerative diseases (leukoencephalopathies). Her team applies recent genomic technologies, such as next-generation sequencing and single nucleotide polymorphism microarrays, to identify novel gene mutations involved in epileptic encephalopathies, including Dravet syndrome and familial forms of common epileptic syndromes (focal epilepsies) other than early onset neurodegenerative disease. Dr. Terracciano has been lead author or co-author on several recent publications on the genetics of epilepsy and other neurological diseases.

Shawn Levy PhD

Shawn Levy, PhD

Faculty Investigator, HudsonAlpha Institute for Biotechnology

Dr. Levy is a faculty investigator at the HudsonAlpha Institute for Biotechnology. Dr. Levy focuses on the development and application of genomic and bioinformatic technologies and methods to support scientific investigation. Levy is adjunct faculty in the department of genetics and department of epidemiology at the University of Alabama at Birmingham and serves as an ad hoc reviewer for more than a dozen scientific journals. He received his PhD in biochemistry and completed a postdoctoral fellowship in genetics in 2000 at Emory University in Atlanta, where he set up a microarray facility at the Emory Center for Molecular Medicine. Before joining HudsonAlpha in 2009, Dr. Levy was a faculty member at Vanderbilt University Medical Center with appointments in the department of molecular physiology and biophysics and the department of biomedical informatics. He was the founding director of the Vanderbilt Microarray Shared Resource.

Ellen Heitzer, PhD

Associate Professor, Institute of Human Genetics, Medical University of Graz

Dr. Ellen Heitzer is an Associate Professor at the Institute of Human Genetics, Medical University Graz, Austria. She received her PhD in Molecular Biology in 2007 from the Medical University Graz. Prior to beginning her research at the Institute of Human Genetics, she worked as a Postdoc at the Department of Dermatology and the Division of Oncology, Medical University Graz. During a research stay at the Wellcome Trust Centre for Human Genetics at the University of Oxford, she worked on functional assessment of variants in polymerase coding genes. In the last years, she published several journal articles, which reflect her interest in cell-free circulating tumor DNA and circulating tumor DNA. In the last years, her work was recognized with several national and international awards, e.g. BMC Cancer Research and Overall Award 2014. In addition to her work on circulating tumor DNA, she is involved in the routine diagnostics of hereditary diseases with the main focus on familial cancer syndromes.

Stephanie Yaung, PhD

Director, Medical Affairs for Pharma Services, Roche Sequencing Solutions

Dr. Stephanie Yaung is an innovative leader with over 15 years of scientific experience, from bench experiments to bioinformatics to clinical studies. In her previous role as Senior Manager Medical Affairs at Roche Sequencing Solutions, Dr. Yaung develops medical and publication plans, provides medical input to commercial strategy, and conducts scientific advisory boards. She also generates clinical evidence supporting sequencing assays and informatics solutions, and builds educational materials for affiliate trainings and customer activities to communicate on medical value. Dr. Yaung previously managed an international team of bioinformatics scientists to support clinical sequencing studies and product development for oncology. Dr. Yaung earned a Ph.D. in Medical Engineering and Medical Physics from the Harvard-MIT Division of Health Sciences and Technology. She completed her thesis research in George Church’s lab at Harvard Medical School, where she developed and applied sequencing and genetic engineering methods in metagenomics and and microbiome editing. Dr. Yaung also holds dual S.B. degrees in Biological Engineering and Management Science with minors in Mathematics and Biology from MIT.

If you are not attending ESHG and would like to learn more about these topics, please contact your local Roche or visit

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