Genomic Medicine – Contact Details

A photo of Genomic Medicine Theme lead: Professor Serena Nik Zainal

Theme lead: Professor Serena Nik-Zainal

Professor Nik-Zainal is NIHR Research Professor of Genomic Medicine and Bioinformatics at the University of Cambridge and Honorary Consultant in Clinical Genetics at Addenbrooke’s Hospital.

Serena’s research expertise is in whole cancer genomics. One of the first groups to develop holistic whole cancer genome profiling approaches, her team combines computational and experimental approaches to uncover how and why mutation patterns called ‘mutational signatures’ arise in cancer.

By understanding these signatures, her team uses machine-learning to create algorithms for clinical cancer genome interpretation.

Beyond cancer, Serena’s team also explores progressive neurodegenerative phenotypes in rare genetic disorders, using functional multi-omic approaches. Through her links with NIHR and NHS England, Serena is working with industry partners to develop future-proofed computational infrastructure that is permissive of federated or swarm learning.

Serena’s team are recognised through the Dr Josef Steiner Cancer Research Award 2019Foulkes Foundation Medal 2021 and the Sir Francis Crick Award and Medal 2021.

Contact: sn206@cam.ac.uk

Marc Tischkowitz

Theme co-lead: Professor Marc Tischkowitz

Marc Tischkowitz is a Professor and Honorary NHS Consultant in the Department of Medical Genetics at Cambridge. He completed his medical degree in 1993 and trained in Medical Oncology before completing his CCST in Medical Genetics.

From 1999-2002 he undertook a PhD researching the role of Fanconi anemia gene mutations in the development of sporadic acute myeloid leukaemia. He held a Consultant post at Great Ormond Street Hospital before moving to McGill University, Montreal in 2005 where he worked on Faculty for six years before coming to Cambridge.

Much of his research has been on the Fanconi Anemia genes and hereditary breast cancer predisposition but his interests cover all areas of hereditary cancer and translating the recent advances in genomic technology into clinical practice.

Contact: mdt33@medschl.cam.ac.uk

Professor Eamonn Maher

Cancer genetics, human developmental genetics, epigenetics and genomic imprinting

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