Meet some of our speakers

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.

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 

Louisse Paola Mirabueno completed her bachelor's degree in Genetics and Cell Biology at Dublin City University, and graduated with an MPhil. at the University of Reading. She has worked in both academic institutes and industry. Her experience ranges from genomic analyses in vertebrates and bacterial populations, high-throughput screening in biotech and early-stage drug discovery, and research and development in long-read sequencing.
 

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).

Jorge Diogo Silva is currently a Clinical Genetics resident at the Santo António University Hospital Center (Porto, Portugal), and Invited Assistant Professor at the School of Medicine of the University of Minho (Braga, Portugal).

He obtained his M.D. from the University of Minho (Braga, Portugal), and his Ph.D. from the University of Minho and Columbia University (NY, USA) where he studied genetics of neurological and neurodevelopmental disorders, in fundamental, translational and clinical perspectives.

Jorge is currently involved in several activities in the field of Human Genetics. He is actively providing Clinical Genetics care to patients in a tertiary hospital, and working as a consultant for other physicians caring for patients with rare diseases. He is the coordinator of the Medical Genetics curriculum of the medical degree at the University of Minho, and also teaches Human Genetics to psychology students. He also works in a genetic diagnostic laboratory performing genetic variant classification and the interpretation of genetic tests. His research activity currently focuses on the clinical implications of genetic variation, and in translational and clinical studies of rare genetic disorders.

Nikos is Molecular Biologist & Geneticist with Master in Clinical Biochemistry - Molecular Diagnostics and PhD in Medical Genetics. He is working as Post-doc Researcher and Scientific Research Associate in the Laboratory of Medical Genetics of the National and Kapodistrian University of Athens, Greece, coordinating the application of Clinical Next Generation Sequencing. He has expertise in the field of genome sequencing and data analysis. As a post-doctoral geneticist, he is involved in the development, improvement and adoption of analytical protocols for variant filtration and interpretation of genomic data, investigating the genetic basis of Rare Disorders. He is impressed by the technological advances in genomics and specifically interested in the advent of novel scientific tools, and bioinformatics applied in medical genetics.

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]). 

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.