Rocío is a medical doctor with a PhD in human genetics and a decade of experience analyzing genetic data and studying variants. She completed her PhD at Radboud University Nijmegen and was a postdoctoral fellow at the Max-Planck Institute for Molecular Genetics in Berlin. She has numerous publications in prestigious journals and received the Young Investigator Award for Outstanding Science from the European Society for Human Genetics for her doctoral research (2016).

Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]). 

Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure

Astrid joined Ensembl as an Outreach Officer in August 2017. As a member of the Outreach Team she delivers workshops, creates training materials and help pages, manages social media, answers helpdesk queries and aids development of new Ensembl tools and displays. Before starting at EMBL-EBI, Astrid obtained her PhD in Molecular Virology from the University of Veterinary Medicine Hannover, Germany, then worked in Virology, Genomics and Bioinformatics at the Federal Research Institute for Animal Health, Germany, the Wellcome Sanger Institute and the University of Cambridge, UK. Astrid is a Fellow of Lucy Cavendish College at the University of Cambridge, where she held a Teaching Fellowship providing small-group teaching to undergraduate students, and acted as a Tutor for graduate students.

Reece Hart is a Research and Engineering Fellow at Invitae, a clinical genome diagnostics company, where he is part of the team building reliable systems to analyze, interpret, and communicate sequence variation. He is an active member of the Global Alliance for Genomics and Health, an international, non-profit alliance that is building a common framework of technical and ethical standards to enable the responsible, voluntary, and secure sharing of genomic and clinical data. He was previously director of engineering at 23andMe, the Chief Scientist for UC Berkeley's Genome Commons, and a scientist in target discovery and manager of research computing at Genentech. He received his PhD in molecular biophysics and Masters in computer science from Washington University in St. Louis.

Alexander Hoischen is affiliated with the department of Human Genetics and the department of Internal Medicine of the Radboudumc, and operates within the Radboudumc research theme Infectious diseases and global health. He and his research group are fascinated by the application of latest genomics technologies to understand the genetic basis of rare (immune) disorders. He is also the Scientific Director of the Radboud Technology Center Genomics.

Technological advances summarized as next generation sequencing (NGS) have changed human genetics dramatically in the last 15 years. For the first time we can read the genome, or the coding portion of the genome a.k.a. the exome, of many individuals; and this has changed the research and diagnostics of human diseases, in particular rare diseases. In addition, novel NGS-based approaches allow to read DNA with much improved accuracy allowing somatic mutation detection in an unprecedented way.

Our group has been involved in several discoveries of novel rare disease genes, with a recent focus on rare immunological diseases. We however face the challenge that in a large proportion of patients (30-80% depending on disease) with a likely rare genetic disease remains unexplained even after exome sequencing. Within the group ‘genomic technologies and immuno-genomics’, we aim to establish novel –omics methods and integrate the novel –omics data with existing data to boost the discovery of genetic causes of (rare (immunological)) diseases.

Within our group and together with our collaborators we envision novel themes that all go ‘beyond the exome’ and will ultimately improve (rare) disease genetics in research and diagnostics. Specific focus will be on: 1. Better analyses of existing exomes and move to genomes, 2. long-read genomes, 3. integration of the effect of rare and common variants, 4. integration of transcriptomics and genomics (and other –omics), 5. more accurate sequencing for somatic mutation detection, 6. early adoption of latest technologies for the benefit of immunology, pathology, and genetics.

Associate Director UCSC Genome Browser

UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA

Andreas Laner, PhD

Head of Genomics Program

Areas of Specialization

• Genetics of hereditary cancer syndromes
• Next-generation sequencing applications
• Interpretation and classification of sequence variants

Education & Experience

• Diploma in Biology, Ludwig Maximilian University, Munich
• PhD, Ludwig Maximilian University, Munich

Professional affiliations

• MGZ Munich, Head of Genomics Applications
• Member, European Society of Human Genetics
• Curator, Leiden Open Variation Database
• Organizational Committee, Variant Effect Prediction Training Course, Crete 2016
• Scientific Program Committee, 14th International Symposium on Variants in the Genome, Santiago de Compostela 2017 

Jane has been a Project Leader for Annotation in the Ensembl team since June 2017, as part of the GENCODE project. Her background is in virus research, plant biochemistry and molecular biology, with her PhD in plant biochemistry. In 2000 Jane left bench science and moved into bioinformatics, working as a computational molecular biology specialist for the BBSRC, providing teaching and support for molecular biology software packages for 8 BBSRC Institutes. In 2002 she joined the Sanger Institute as part of the HAVANA group working on manual gene annotation of human, mouse and zebrafish genomes and latterly the swine, rat and chicken genomes. Jane has subsequently been involved in a number of major international collaborations, including generating the GENCODE gene annotation, and collaborating with NCBI, HGNC, MGI and Ensembl. Jane has been an instructor for Wellcome Genome Campus Advanced Courses since 2002, and presents human, mouse and zebrafish workshops around the world.