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).

Ensembl Outreach Officer - Yates team: Genomics Technology Infrastructure

Ben joined Ensembl as an Outreach Officer in September 2015. As a member of the Outreach Team he delivers workshops, answers helpdesk queries, creates training materials and help pages, and manages social media. Before starting at EMBL-EBI, Ben obtained his PhD in Biological Sciences from the MRC Laboratory of Molecular Biology at the University of Cambridge. He has previously hosted the BlueSci science radio show and now organises 

Professor Christophe Béroud (PharmD, PhD) has 27 years' experience in research laboratories and is an expert in bioinformatics and molecular biology. He is the creator of the UMD system as well as multiple databases and software, including Human Splicing Finder (HSF) and UMD-Predictor, to process and analyse NGS data. He has published 130 international papers and has 5 patents. He is/was involved in multiple national and international committees and is/was the INSERM scientific team leader of various EU projects including RD-Connect.

He is full professor of Human Genetics in the Molecular Genetics Laboratory of the Aix Marseille University (AMU) and the APHM Hospital, head of the "Genetics and Bioinformatics" research team (INSERM UMR_S910), expert for the French Ministry of Research and Health and the European Commission, member of the Scientific committee of the Human Genome Variation Society (HGVS), member of the CSS2 at INSERM, communicating editor of the Human Mutation journal and member of the "Big data" committee at AMU.

He has contributed to oncogenetics with the development of international reference databases for TP53, BRCA1/2 and MMR genes; prenatal diagnosis of rare diseases with the development of the ISET technology to isolate and study circulating foetal cells; identification of disease-causing mutations in the NGS context with the creation of the most efficient in silico pathogenicity prediction systems; and to the diagnosis of rare disease (national expert centre for the diagnosis of congenital muscular dystrophies and dystonia).

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]). 

Stanislav Kmoch: First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; head of the research program Development of Diagnostic and Therapeutic Procedures at BIOCEV and head of the Genomics and Bioinformatics Laboratory at Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital. He has a long term interest in genetics and biology of human diseases. In his work he has developed and implemented wide array of biochemical, genetic, molecular biology, genomic, next-generation sequencing and bioinformatic methods which he successfully applied in various projects leading to identification of causal genes and characterisation of molecular and structural basis of more than a dozen of genetic diseases. In several cases his work led to the development and application of novel diagnostic methods and therapeutic approaches.

NeuroCure Cluster of Excellence

Charité Universitätsklinikum Berlin,

Berlin, Germany

Dr Köhler has published articles in the field of disease gene prioritization by using complex networks and machine learning methods. He has been working on development and validation of computational methods for network- and ontology-based research on genotype- to-phenotype relations. He is one of the founders and major developers of the Human Phenotype Ontology (HPO) and related cross-species phenotype resources. He has developed software that uses the HPO to perform phenotype-driven analysis of genomic variation, such as single nucleotide variations or Copy-number variations.

Professor Milan Macek Jr. MD, DSc is the chairman of the largest academic medical / molecular genetics institution (Department of Biology and Medical Genetics; DBMG) in the Czech Republic and cochair of the National Cystic Fibrosis Centre.  He is also the past President of the European Society of Human Genetics (2011; www.eshg,org) and past-board member of the European Cystic Fibrosis Society (2007-2014; ECFS.eu). He was member of the EUCERD.eu committee, and currently serves as an EC-appointed expert at the Commission Expert Group on Rare Diseases. His department was designated by the Czech Ministry of Health as a National Coordination centre for rare diseases (www.nkcvo.cz) and serves as a "clearing centre" (Min Health Bulletin 4/2012) for dissemination of knowledge in rare disease-related genetics gathered within various international European projects related to rare diseases. His main research and clinical interes is molecular genetics/genomics in rare diseases, and how to bring genetics knowledge to the bedside. Prof. Macek is also the Czech National coordinator of Orphanet and member of the Diagnostic Committee of the International Rare Disease Consortium (www.irdirc.org).

Patricia Norambuena-Poustková, Ph.D.

Department of Biology and Medical Genetics

University Hospital Motol

V Úvalu 84, 150 06 Prague 5, CZ

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. 
 

Martina Witsch‐Baumgartner

Martina Witsch‐Baumgartner heads the molecular diagnostic laboratory at the Medical University in Innsbruck, Austria. She has over 20 years of experience in molecular genetics and 4 years in cytogenetics. The lab performs a large spectrum of inherited diseases that are analyzed by TP‐PCR, DNA and RNA sequencing (Sanger and NGS), MLPA, and Southern Blot analysis. Analyses are performed in about 3000 cases per year. Martina Witsch‐Baumgartner acquired her professional expertise by university degree in Biology and Human/Medical Genetics in courses at the Universities of Paris XII (France), Tübingen (Germany), and Innsbruck (Austria). She performed Master thesis in the Cytogenetic lab of Prof. Bernard Dutrillaux at the Institute Curie in Paris (France), the Doctoral Thesis was developed in Biochemistry at the lab of Prof. Manfred Schweiger in Innsbruck (Austria). As postdoc she worked at the Institute Gaslini with Prof. Giovanni Romeo in Genoa (Italy). Professional development continued in Innsbruck (Austria) at the Children ́s Hospital and the Institute of Medical/Human Genetics. Here she specialized in Human Molecular Genetics. She is chair of the International Confederation of Countries Advisory Council of the Human Variome Project (ICCAC, humanvariomeproject.org) and also management board member of the Austrian Society of Human Genetics (since 2016; www.oegh.at). She is a scheme organizer (PKU) at the European Molecular Quality Network (www.emqn.org). Martina has the European registered Clinical Laboratory Geneticist (ErCLG, www.eshg.org). Her main research and clinical interest is molecular genetics/genomics in rare diseases, and establishing a communication and exchange database regarding sharing of molecular data in Austria which should be valuable, of high quality and sustainable.