Dr. Miga is an Associate Professor in the Biomolecular Engineering Department at UCSC, Director of the UCSC Sequence Technology Centre, and an Associate Director of the UCSC Genomics Institute. In 2019, she co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Additionally, Dr. Miga is the Director of the Genome Center for the Human Pangenome Reference Consortium (HPRC). 

Professor Louise Bicknell’s passion is providing families with answers about the cause of genetic conditions affecting their children. Her team uses DNA analysis and molecular biology approaches to discover and understand how previously unexplored genes underlie genetic disorders, with a focus on helping children with neurodevelopmental disorders or growth impairment. She works closely with clinical genetics and diagnostic laboratories in New Zealand, and has a significant international collaborator network, together enabling the identification of more than 25 novel disease genes, providing answers for > 300 families globally. She is Co-Director of Genetics Otago Research Centre, and instigated New Zealand’s involvement in the Horizon Europe funded European Rare Disease Research Alliance (ERDERA), for which she is now the Principal Representative for New Zealand on the ERDERA Governing Board.

Steven Harrison, PhD, FACMG, is an ABMGG board-certified molecular geneticist working as Genomic Science Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Variant Classification Working Group, which aims to develop general recommendations to the ACMG-AMP variant classification guidelines. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center and completed his ABMGG Clinical Molecular Genetics and Genomics fellowship in 2018 at Harvard Medical School.

Dr Roshni Vara completed her medical degree at King’s College London in 1998. She went on to undertake specialist training in Paediatric Hepatology at King’s College Hospital, qualifying in 2009, followed by a further two years of advanced training in Paediatric Inherited Metabolic Disease at London’s two tertiary metabolic centres. She also holds a master’s degree in clinical paediatrics.In 2011, Dr Vara was appointed Consultant in Paediatric Inherited Metabolic Disease at Evelina London Children’s Hospital. She has also broadened her expertise through clinical experience at leading centres in New Zealand and India.Dr Vara has served as Deputy Chair of the British Inherited Metabolic Disease Group and as a Trustee of Metabolic Support UK.She has a longstanding specialist interest in metabolic liver disease and liver transplantation for children with inherited metabolic disorders. She has authored more than 40 papers published in peer-reviewed journals. Dr Vara currently works across Evelina London Children’s Hospital and King’s College Hospital, where she plays a key role in the development and advancement of the metabolic liver disease service.