Meet some of our Invited Speakers

Aleena studied Molecular and Biomedical Sciences at King’s College London. She joined the Quadram Institute Biosciences, UK to pursue her PhD in the field of Molecular Biology. Her PhD investigated the molecular and microbial changes in the gut-liver axis in response to the high-fibre and low-fibre Western diets. Aleena joined EMBL-EBI as an Ensembl Outreach Officer in 2021 and delivers training on Ensembl resources.

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).

A group leader and principal investigator at the University Hospital of Dijon and the University of Burgundy since 2017. After completing his master’s degree at the University of Pisa (Italy), Antonio moved to Basel (Switzerland) where he was enrolled in the Friedrich Miescher Institute PhD program, obtaining his PhD in Neurobiology conferred by the University of Basel in 2013. As a post-doc he worked at the Novartis Institute for Biomedical Research, in the group of Safety Epigenetics, where he integrated genomic, transcriptomic and epigenomic data obtained from multiple preclinical species and human samples. 

Currently, he is interested in the implementation of novel omics technologies into the medical practice, to reduce wandering and diagnostic deadlock associated with unsolved rare genetic neurodevelopmental diseases. 

Dr Fiona Cunningham is interested in problems where building large-scale systems for genomic data can lead to fundamental biological insights, particularly for understanding genomic variation. At EMBL-EBI she is responsible for genome interpretation and variation resources, and manual genome annotation (GENCODE). Her team developed Ensembl's Variant Effect predictor (VEP), the software tool for annotating variation data.

Fiona is part of the senior management for Ensembl (www.ensembl.org), a genome information system, and led the creation of the variation and phenotype data in Ensembl. Fiona shares leadership of Ensembl’s genome interpretation strategy and has overall responsibility for the variation resources in Ensembl and the International Genome Samples Resource (IGSR). In collaboration with the NHGRI, she is one of the PIs for the GWAS Catalog and formally, she led the Variant Annotation task team for the Global Alliance for Genomic Health project (GA4GH).  

Fiona is committed to open data and standards, in particular to share data and facilitate the transfer of research knowledge into valuable resources. In collaboration with the NCBI in the USA, Fiona leads the Matched Annotation from NCBI and EMBL-EBI (MANE) initiative, which aims to release a genome-wide transcript set with only one well-supported transcript per protein-coding locus. All transcripts in the MANE set will perfectly align to GRCh38 and will represent 100% identity between RefSeq and Ensembl/GENCODE. She also worked on the development of reference sequences, called LRG (Locus Reference Genomic) sequences, a stable data standard for reporting clinical variants with support for legacy sequences as part of the Transforming Genomic Medicine Initiative (TGMI). 

Prior to EMBL-EBI, Dr Cunningham worked at the Wellcome Trust Sanger Institute, Cold Spring Harbor Laboratory, and at deCODE Genetics in Iceland.

https://www.ebi.ac.uk/about/people/fiona-cunningham

A special interest in dysmorphology, in particular Coffin-Siris syndrome, and prenatal genetic testing.

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.

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. 
 

Dr. Terence Murphy is the business owner for the RefSeq offering at the NCBI, and is the team lead for NCBI's eukaryote annotation group. He first joined the NCBI in 2006, and has spent the last 15 years working to apply the lessons learned from manual data curation to developing high-throughput methods to improve gene annotation in human, mouse and other eukaryotic species of relevance for improving human health. His team produces the NCBI RefSeq annotations for human, mouse, and hundreds of other eukaryotes, manages the datasets available in NCBI's Gene resource, and develops software for rapid high-quality genome annotation to support basic and applied research around the world.