Meet some of our invited speakers

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.

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 

Anna is head of Bioinformatics at the Medical Genetics Centre Munich and a research coordinator for the German Human Genome Archive (GHGA) at the Helmholtz Munich. Since 2019 she is also a scientific collaborator at UCSC Genome Browser.

She has a PhD in human genetics and is a specialist in the field of genome sequencing and data analysis with a strong background in the clinical genetics of Rare Diseases. She has many years of experience in interdisciplinary management of laboratory technology, bioinformatics, and scientific development in academic, clinical and private practice environments.

Anna is an advocate for the use of best practices in FAIR data management and sharing strategies to maximize the use of OMICS data and improve the diagnosis of genetic disorders. She has contributed to publications on guidelines for utilization of next-generation sequencing approaches in clinical genetics testing and she is assessor of the External Quality Assessment scheme for Charcot-Marie-Tooth disease within the European Genetics Quality Network (EMQN) framework. She strongly believes in the power of education and is therefore an active member of the HUGO Education Committee and an instructor at the Variant Effect Prediction Training Course (VEPTC).

Montpellier University Hospital and the Institute for Neurosciences of Montpellier (Inserm U1298). After training in biology, David got his 

MSc in bioinformatics at the University of Montpellier in 2005. He has then joined the “deafness and blindness” diagnostic team of the laboratory of molecular genetics of the University Hospital. He is interested in developing bioinformatics applications meant to facilitate the interpretation of genetics data. After working on LSDBs and variant curation he has worked heavily on the implementation of the 2nd generation sequencing technologies in Montpellier, first with 454 sequencing and Illumina since 2014. He’s now involved in long-reads (ONT) implementation and RNA-seq data analysis. In 2019 he developed and released a generic online DNA variant interpretation and annotation platform. This open-source platform, named “Mobidetails” (https://mobidetails.iurc.montp.inserm.fr/MD/), is totally free for academic use. This platform centralizes all relevant data for expert assessment of the pathogenic potential of a variant of interest, including population frequencies and occurrences in LSDBs and in the literature, popular missense predictors, a strong focus on splicing predictions, semi-automated ACMG classification via intervar and several other unique features such as a “clinvar watch” personalized system to follow variants interpretations in Clinvar days after days. MobiDetails annotations are dynamic, as they either rely on local files updated on a regular basis or on live API calls. In addition, new features are frequently released. The tool will be presented and discussed extensively during the workshop.

Studied biology at the University of Oviedo an did his PhD in Pompeu Fabra University in the field of human genetics. In 2007 he joined the Hereditary Cancer Program at the Catalan Institute of Oncology. Since then, he has worked, on the one hand, in the molecular diagnosis of different hereditary cancer predisposition syndromes and, on the other hand, in research tasks also related to hereditary cancer, which have resulted in more than fifty publications.

Jan is a Professor of Genetics, and Director of the Laboratory of Medical Genetics, Athens University, and has over 30 years of experience in molecular genetics. Originally from the UK, where she graduated with a BSc in Physiology and Biochemistry from Reading University and a Doctorate (DPhil) at Oxford University, (under Sir Professor David Weatherall), she moved to Greece in 1982 and since 1983 has worked in the university clinics (pediatrics and genetics) of the St. Sophia’s Children’s Hospital in Athens. In 2005 she became a member of Athens University Medical School, in the Laboratory of Medical Genetics. Jan has wide experience with molecular diagnostics for many monogenic diseases. She is an internationally recognized expert in the hemoglobinopathies and also preimplantation genetic diagnosis (PGD), and has contributed to publications on Best Practice Guidelines for both topics. Her main research activities focus on investigating the molecular genetics of monogenic diseases and also the development of methods for molecular diagnostics. She has also participated in an EU-funded project which focused on Introducing diagnostic applications of next-generation sequencing in human genetics. She has over 150 peer-reviewed publications in international journals and chapters in several books. 

Jan is a long-term member of the European Society of Human Genetics (ESHG) and the European Society of Human Reproduction and Embryology (ESHRE), serving on the Steering Committee of the ESHRE PGD Consortium between 2004-2016, and as Chair between 2012-2014.  She is also a member of the Special Advisory Group for External Quality Assessment for PGT through GenQA and The Haemoglobinopathy Expert Panel, recognised by the Clinical Genome Research (ClinGen).

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]). 

Leslie Matalonga obtained a PhD in Biomedicine (University of Barcelona) and worked at a clinical Group in Hospital Clínic de Barcelona for 7 years. Since 2017, Leslie joined the CNAG-CRG Bioinformatics Unit as Clinical Genomics Specialist. She works in the analysis and interpretation of genomic data from patients with rare diseases. She works in collaboration with the developer team of the RD-Connect GPAP (https://platform.rd-connect.eu/ ) and coordinates part of the new features to be added. She has been involved in several national and internal projects towards rare disease genomic diagnostics and research such as URD-Cat, NAGEN 1000G and Solve-RD, where she is leading a working group on exome re-analysis through APIs. She is also a member of the ELIXIR Rare Disease Community and is an author of 21 international publications.

A graduate in Biochemistry and a PhD in Biochemistry and Molecular Biology from the University of Barcelona. Since August of 2004 Marta is part of the Molecular Diagnostics Laboratory of the Hereditary Cancer Program at the Catalan Institute of Oncology-IDIBELL, where she has focused on genetic diagnosis and research of hereditary colorectal cancer. Her research is mainly focused on improving identification and risk assessment of individuals with mismatch repair deficient-associated syndromes (Lynch syndrome and CMMRD). Since 2012 she is a member of the Variation Interpretation Committee of the Insight (current Insight/ClinGen VCEP). 

Prof Makrythanasis received his Medical Degree from the University of Athens, Medical School, Greece and got his PhD from the same University in the field of Human Genetics. He got specialized in Medical Genetics in Geneva Switzerland and received his Privat Docent from the University of Geneva for his research in the identification of novel genes responsible for monogenic disorders through the study of consanguineous families. After his return in Greece he worked at the Greek Genome Center of the Biomedical Research Foundation of the Academy of Athens, before joining the Medical School of the University of Athens, where he currently holds the position of Assistant Professor in Medical Genetics.

Robert Kuhn received his PhD in biochemistry and molecular biology at the University of California Santa Barbara, where he studied the centromeres of yeast.  Following a postdoctoral fellowship studying photoreceptor genes in plants at UC Berkeley, he taught biochemistry, genetics and molecular biology at the University of California Santa Cruz.  

He joined the UCSC Genome Browser project in 2003, retiring as Associate Director in 2022.  The Genome Browser is a widely used visualization tool giving access to the genomes of human, model organisms and more than one hundred other animals.  Dr. Kuhn's responsibilities included influencing the growth and interface of the Browser, identifying important datasets for inclusion into the Browser and enabling researchers worldwide through in-person workshops and seminars as well as the YouTube channel.  He has now taught more 300 presentations (https://bit.ly/kuhnTalks).  He has a particular interest in the support of clinical geneticists teaching the use of online databases and tools for interpreting data.  

Dr Kuhn is now operating as Robert Kuhn Consulting, where he continues to offer Browser trainings, bioinformatics consultation and educational materials. 
 

Senior Researcher of VHIO´s Hereditary Cancer Genetics Group

Dr. Sara Gutiérrez-Enríquez is a Molecular Geneticist with 20 years of experience in the field of Clinical Genetics. She did her Biology’s Bachelor in the Pontificia Universidad Católica del Ecuador. She completed her PhD in Genetics at Autonomous University of Barcelona before moving on to a Marie Curie European postdoctoral fellowship in DNA Repair and Cancer at International Agency for Research on Cancer in Lyon, France. She did a 2nd postdoctoral stage in Hereditary Cancer at Hospital de la Santa Creu i Sant Pau, in Barcelona, Spain. She was awarded with a Miguel Servet Contract, a prestigious program for incorporating clinical researchers in centers of the Spanish National Health System. She is currently senior investigator in the Hereditary Cancer Genetics Group in the Vall d'Hebron Institute of Oncology (VHIO) of Barcelona and she is the leader of the research done in the laboratory (https://vhio.net/pf/hereditary-cancer-genetics-group/).

Her fields of expertise are Hereditary Breast and Ovarian Cancer (HBOC) and Radiogenomics. Her current research is focused on:

-improving genetic testing of HBOC through greater reliance on RNA and WGS-based genetic diagnosis.

-optimizing genetic variant interpretation, specifically the classification of potentially spliceogenic variants, and

-personalizing radiotherapy by deciphering the genetic susceptibility underlining the radiotherapy-induced normal tissue toxicity.

She has been funded as principal investigator in European and national projects uninterrupted since 2011. She is author in more than 80 manuscripts and has directed two doctoral theses defended in 2019 and 2022.

In 2019, she has been accredited in Clinical Genetics by the Spanish Association of Human Genetics (AEGH). In 2021 she was invited to join the steer committee as a deputy chair of the Splicing Working Group of the ENIGMA international consortium (Evidence-based Network for Interpretation of Germline Mutant Alleles), which aims to develop statistical and laboratory methods to evaluate variants of uncertain clinical significance in known and suspected breast/ovarian cancer predisposition genes.