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).

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]). 

Research Scientist focused on medical genomic diagnostics and genomics of unique adaptations

Specialties: 

• Molecular Genetics
• High-throughput Sequencing technology
• Water-free preservation of living tissues and cells
• Genome-wide mRNA expression analysis
• Proteomics
• Metabolomics

Bio TBA.

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. 
 

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 

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 

Title Prof., D. Sc.

Institute Research Center for Medical Genetics

Address Moskvorechie 1, Moscow, 115478 Russia

Specialization: Molecular Genetics

Head of DNA diagnostics laboratory

Education 1983-1989, student of Moscow Physical Engineering Institute

Fields of scientific interesting DNA-diagnosis development for different hereditary diseases, linkage analysis, gene mapping

Ekaterina Pomerantseva graduated from the Russian State Medical University and received a PhD in molecular genetics. She spent six years working at the Reproductive Genetics Institute (Chicago, USA) as a laboratory geneticist and received a certificate in Assisted Reproduction Technology (IVF) and Preimplantation Genetic Diagnosis (Single Gene Disorders). Ekaterina returned to Russia to promote PGT and joined the Genetico team and participated in development of the large center for medical genetics, including PGT, NIPT, WES, WGS, CMA and oncogenetics. Ekaterina received an MD in Clinical Genetics and started a project in genetic research of autism. Ekaterina is currently work in the laboratory of clinical genetics, including data interpretation at Genetico, Moscow, Russia.