Scientific Program Committee

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 

Zilfalil bin Alwi started his medical career as a medical officer in 1991 after completing his Bachelor of Medicine and Bachelor of Surgery (MBBS) degree at University of Dacca, Bangladesh. He obtained a Masters degree (MSc) in Medical Genetics from University of Glasgow, United Kingdom and continued his studies at University of Aston, United Kingdom, where he was awarded Doctor of Philosophy (PhD) in Pharmacogenetics.

His research interest includes genetics of childhood Spinal Muscular Atrophy (SMN genes & NAIP gene), population genomics (genetic diversity of the Malay race), and genome wide studies on diseases common to the local population. He has published more than 80 publications in international and local journals and presented more than 100 papers at local and international conferences. He is a member of the Pan-Asia SNP research consortium which studies the genomic profile of the Asian population. He is also the head of the Malaysian Node of the Human Variome Project, founding President of the Malaysian Society of Human Genetics and the Deputy President of the Genetics Society of Malaysia (PGM).

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]). 

Appointment(s):  Associate Professor, Department of Paediatrics

Administrative Appointment(s):

• Deputy Chairman, NUS Institutional Biosafety Committee
• Vice-Chair, MD1 Tahir Foundation Research Safety Commitee
• Member, NUS Medicine Faculty Safety Committee
• Member, Centre for Translational Medicine Safety Committee

Joint Appointment(s):

• Adjunct Faculty, Genome Institute of Singapore, A*STAR
• Adjunct Principal Member of Technical Staff, Defence Medical Research & Environmental Research Institutes, DSO National Laboratories
• Member, Defence Science Organisation and Singapore Armed Forces Institutional Review Board

Trained at the Pasteur Institute in Paris, Bruno Reversade obtained his Ph.D. from the University Pierre & Marie Curie in France, whilst at the Howard Hughes Medical Institute in UCLA.

Dr. Reversade published landmark papers that provide an explanation for how embryonic homeostasis is maintained and how, from one egg, identical twins can be produced.

Dr. Reversade's current research involves rare human pedigrees which suggest that the birth of monoclonal humans (identical twins) may be genetically-triggered. His work is supported by the Branco Weiss Foundation, whose mission is to bridge Science and Society.

Dr. Reversade was awarded the prestigious, inaugural A*STAR Research Investigatorship. He joined the IMB as Principal Investigator in January 2008 and was promoted to Senior Principal Investigator in 2012.

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. 
 

Raman Sethi (Research Associate, National University of Singapore): 

Raman Sethi is a bioinformatician working at National University of Singapore (NUS). He completed his Bachelor in Biotechnology in 2012 and Masters in Biotechnology in 2013. He has more than 5 years of post-graduate specialized research experience on various projects related to biotechnology and bioinformatics, especially next-generation sequencing and big data analytics in biology. He has worked in various research labs of repute before joining NUS such as CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India and CSIR-National Institute of Science Communication and Information Resources (CSIR-NISCAIR), New Delhi, India. Currently, he is with the School of Medicine at National University of Singapore and involved in various projects involving Next-Generation sequencing for clinical applications, including developing novel pipelines for clinical variant curation. He has experience in whole genome sequencing, whole exome sequencing and targeted sequencing data analysis ranging from Genome Alignment (using BWA, Bowtie, Novoalign, Stampy, Cushaw3), SNV Calling (using GATK, VarScan2, MuTect, Platypus, samtools, Freebayes), SV Calling (using Delly, Manta, SVDetect, GROM, Lumpy, COSMOS), CNV Calling (using CNVnator, Control-FREEC, GROM-RD, Titan, BIC-Seq), Variant Annotation (using Annovar, VEP, snpEff) and Genome Visualization (using IGV, UCSC browser, Circos). Apart from that, he has worked on projects involving SNP Array data, GWAS data, RNA-Sequencing data (using HISAT, Cufflinks, Cuffdiff, Cuffmerge) and Genome editing techniques such as designing microRNA TALENs in Zebrafish. He has also worked in the field of peptide and computer-assisted drug design by the interaction of bacterial surface proteins with the antimicrobial peptides of bacterial origin using insilico protein interaction tools (Molecular docking). He is well versed with various computer programming languages such as perl, R, python, C and machine learning algorithms. Apart from these programming languages, he writes linux bash scripts for handling big data analysis on a daily basis. He has experience in using High Performance Computing Facility such as National Supercomputing Centre, Singapore Facility (NSCC) and High-Performance Supercomputing Facility, National University of Singapore. He has qualified Graduate Aptitude Test in Engineering (Biotechnology) jointly organized by Indian Institute of Science (IISc) and Indian Institute of Technology (IIT) in 2014 and received CSIR-Diamond Jubilee Research Intern Award in 2014.