Trainers biographies

Silvia Bahena | EMBL-EBI

Silvia has a degree in Biotechnology Engineering with a specialization in molecular biology from the Monterrey Institute of Technology (ITESM) Mexico. She then continued her education by completing a MSc in Bioinformatics at Uppsala University,Sweden. During her time at Uppsala University, she participated in a research training program with the Department of Medical Sciences at Uppsala University Hospital. For her degree project, she worked on Molecular Dynamics Simulations at the Molecular Biophysics Stockholm department at ScilifeLab. Following this, Silvia completed an internship with the Scientific and Medical Affairs team at Thermo Fisher Scientific in Uppsala, before joining the EGA, where she has been a member of the EGA Helpdesk team since 2021.

ORCID: 0000-0002-2734-0449

Julia Foreman | EMBL-EBI

Julia is Project Manager for DECIPHER, an international web-based platform that shares anonymised genetic and phenotypic data from rare disease patients and provides variant interpretation interfaces. DECIPHER helps clinical and research teams to assess the pathogenicity of variants and to share patient data, which is key to discovery and diagnosis. The platform is under continual development and enables the transition of new datasets and tools developed by the research community into clinic. Julia has been DECIPHER Project Manager for six years, using her molecular biology and genetics expertise to grow and develop the platform. Julia’s undergraduate degree was in Molecular Biology and Genetics, before she studied for a PhD in the genetic and molecular analysis of root hair growth in Arabidopsis thaliana. After several years in academic research she began coordinating a multi centred systems biology project investigating the impact of temperature on the signalling properties of a defined network. Julia transitioned to Human Genetics in 2015, joining the Wellcome Sanger Institute to coordinate projects involved with exploring patterns of mutations that arise in human cells to understand how DNA damage and repair processes contribute towards aging and cancer, before taking up her current role on DECIPHER.

ORCID: 0000-0003-4567-2479

Madhumita Madhumita | COSMIC/Sanger

My name is Madhumita and I am a Senior Data Scientist at COSMIC. My responsibilities include identifying and applying analytic methods to COSMIC data to maximize the scientific and clinical value of our products. I hold a PhD in Computational Biology from the Indian Institute of Technology, Jodhpur, India.

ORCID: 0000-0002-8093-7914

Louisse Mirabueno | EMBL-EBI

Louisse 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. Louisse joined the Ensembl Outreach team in January 2022.

Helder Pedro | COSMIC/Sanger

I have been part of the COSMIC team at Sanger for almost 2 years where I work as a bioinformatician maintaining the Cosmic3D website data and performing various analysis for new products. Before that I worked for 9 years at the European Bioinformatics Institute on the Ensembl Genomes team where I did fungal and metazoan genomics. I started my career as a bioinformatician when I enrolled in the PhD Program in Computational Biology at Instituto Gulbenkian de Ciência in Lisbon coming from a masters degree in Biological Engineering at Instituto Superior Técnico also in Lisbon.

Dona Shaju | EMBL-EBI

Dona Shaju joined the European Genome-phenome Archive (EGA) team at EMBL-EBI in 2019 as a Helpdesk Bioinformatician and later transitioned into the role of an Operations Bioinformatician in 2021. Prior to joining EMBL EBI, she started her career as a Programmer Analyst at Cognizant after completing her Bachelor’s in Bioinformatics from Karunya University, India. Her work focused on computational drug discovery and infectious disease gene predictions using system biology approaches. She later completed her Master’s in Biomedical Genomics from the National University of Ireland. Her master’s project focused on the development of an R Shiny web application for the comparison of machine learning techniques for the prediction of inhibitors of Apaf-1 activity. After completing her Master’s she worked as a Teaching Instructor for the CTYI, Ireland, after which she joined the EGA.

ORCID: 0000-0002-1106-876X

Elliot Sollis | EMBL-EBI

I completed my PhD in the genetics of language-related disorders at the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands. I relied heavily on publicly-available databases to support my research, which convinced me of the value of good biological data curation for open and collaborative science. I now work as a Scientific Curator for the GWAS Catalog – a database of human genome-wide association studies. My roles include interpreting and annotating GWAS publications, supporting authors to submit their data, and maintaining and enhancing the scientific content, design and user experience of our website and online tools.

ORCID: 0000-0003-1322-388X

Zbyslaw Sondka | Wellcome Sanger Institute

Having first-hand experience on the methodologies used in both wet- and dry lab in cancer research, I’m interested in identifying and understanding novel and rare molecular patterns associated with cancers and in applying this knowledge to identify new therapeutic targets and diagnostic biomarkers. As a Senior Scientist in COSMIC team I work on development and coordination of multiple research projects to identify which biological and biochemical properties of somatic mutations, and which cellular functions of cancer-driving genes are most important for the development of neoplastic phenotype in every type of human cancer.

James Stephenson | EMBL-EBI

I am currently the lead data scientist with UniProt with a special interest in genetic variation. My roles involve sourcing and verifying variant data sets, importing and
mapping genomic coordinates to protein sequences and developing tools to understand the potential consequences of altering proteins. My previous research work, jointly between the EBI and Sanger, involved the a I am currently the lead data scientist with UniProt with a special interest in genetic variation. My roles involve sourcing and verifying variant data sets, importing and mapping genomic coordinates to protein sequences and developing tools to understand the potential consequences of altering proteins. I work closely with partners in industry. My previous research work, jointly between the EBI and Sanger, involved the analysis of patterns in protein 3D structures of variants from children with developmental disorders where I worked more closely with clinical colleagues. Before working on the genome campus I worked for five years in the US for NASA where my interest in amino acid and protein physico-chemistry led me to work on early life on Earth, in-vitro evolution and investigating Martian clay.

ORCID: 0000-0002-6427-5703

Rebecca White | COSMIC/Sanger

I’m an innovative science communications and marketing specialist who’s passionate about improving health outcomes. I use a strategic, audience-led approach to design impactful campaigns with the aim of driving change. I discovered I enjoyed communicating science following a traverse through the ‘traditional’ science routes. I started with a BSc in biochemistry & genetics, then a year working on the tumour microenvironment in a wet lab, and completed a year of graduate entry medicine. I’ve since been refining my communications, marketing and leadership skills across multiple organisations including Cancer Research UK, the British Heart Foundation, and the London School of Hygiene & Tropical Medicine. Each role has introduced a new area of health with its own comms challenges, from making translational research engaging for the public to navigating the many stakeholders involved in global health initiatives. I now lead on the communications, brand, and marketing strategy for COSMIC (The Catalogue of Somatic Mutations in Cancer) at the Wellcome Sanger Institute.