Serena Nik-Zainal | |
---|---|
Born | |
Alma mater | University of Cambridge |
Awards | Crick Lecture (2021) |
Scientific career | |
Fields | Genomics |
Institutions | University of Cambridge Wellcome Sanger Institute |
Thesis | Exploring mutational signatures in twenty-one breast cancers (2013) |
Website | www |
Serena Nik-Zainal is a British-Malaysian clinician who is a consultant in clinical genetics and Cancer Research UK advanced clinician scientist at the University of Cambridge. [1] [2] She makes use of genomics for clinical applications. She was awarded the Crick Lecture by the Royal Society in 2021. Serena Nik-Zainal was also recognized as one of the 100 Influential Women in Oncology by OncoDaily. [3]
Nik-Zainal was born in England. [4] Her father was a cardiologist who was involved in the first coronary artery bypass surgery to take place in Malaysia. [5] She was supported by Petronas to attend the University of Cambridge, where she studied medicine. [4] She moved to the Wellcome Sanger Institute in 2009, where she started doctoral research [6] using whole genome sequencing to better understand breast cancer. [7] Whole genome sequencing allows for Nik-Zainal to understand the frequency, distribution and mutation patterns of cancer. She showed that it was possible to identify mutational signatures using downstream analysis, and that algorithms could be used to identify abnormalities quickly. These signatures are left by mutations that occur during the development of cancer. During her research she identified the hypermutation kataegis. [4] [8]
Nik-Zainal was awarded a Wellcome Trust Clinical Fellowship in 2013. She moved to the Wellcome Sanger Institute, where she explored whole genome sequencing of tumours. Her research combined computational processes and cell-based model systems.[ citation needed ]
In 2017 Nik-Zainal moved to the University of Cambridge, supported by a Cancer Research UK Advanced Clinician Scientist fellowship. [4] Her research group investigate the physiology of mutagenic activity. [9] She has studied both driver and passenger mutations. Passenger mutations can be used to understand how DNA is damaged and repaired during tumorigenesis. Nik-Zainal looks to identify mutational signatures in human cancers and the aetiologies that give rise to them. Nik-Zainal leads the clinical research project Insignia, which researches mutational signatures in people with neurodegeneration, ageing syndromes and DNA repair defects. [10] Nik-Zainal has continued to develop computational approaches to identify DNA damage in tumours, insight into which can help to determine the most effective treatment in cancer patients. [11] [12]
As of 2024 [update] , she has an h-index of 70. [1]
She was awarded the Crick Lecture by the Royal Society for her work on he aetiology of cancer and contributions to cancer therapies. [13] In 2021 she was awarded a Research Professorship at the National Institute for Health Research (NIHR). [14] She was the first woman to win the Josef Steiner Cancer Research Award in 2019. [15]
Nik-Zainal has two children. [5]
The Institute of Cancer Research is a public research institute and a member institution of the University of London in London, United Kingdom, specialising in oncology. It was founded in 1909 as a research department of the Royal Marsden Hospital and joined the University of London in 2003. It has been responsible for a number of breakthrough discoveries, including that the basic cause of cancer is damage to DNA.
The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust.
The Francis Crick Medal and Lecture is a prize lecture of the Royal Society established in 2003 with an endowment from Sydney Brenner, the late Francis Crick's close friend and former colleague. It is delivered annually in biology, particularly the areas which Francis Crick worked, and also to theoretical work. The medal is also intended for young scientists, i.e. under 40, or at career stage corresponding to being under 40 should their career have been interrupted.
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer.
The Cancer Genome Project is part of the cancer, aging, and somatic mutation research based at the Wellcome Trust Sanger Institute in the United Kingdom. It aims to identify sequence variants/mutations critical in the development of human cancers. Like The Cancer Genome Atlas project within the United States, the Cancer Genome Project represents an effort in the War on Cancer to improve cancer diagnosis, treatment, and prevention through a better understanding of the molecular basis of the disease. The Cancer Genome Project was launched by Michael Stratton in 2000, and Peter Campbell is now the group leader of the project. The project works to combine knowledge of the human genome sequence with high throughput mutation detection techniques.
Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s).
Sir Michael Rudolf Stratton, is a British clinical scientist and the third director of the Wellcome Trust Sanger Institute. He currently heads the Cancer Genome Project and is a leader of the International Cancer Genome Consortium.
COSMIC is an online database of somatically acquired mutations found in human cancer. Somatic mutations are those that occur in non-germline cells that are not inherited by children. COSMIC, an acronym of Catalogue Of Somatic Mutations In Cancer, curates data from papers in the scientific literature and large scale experimental screens from the Cancer Genome Project at the Sanger Institute. The database is freely available to academic researchers and commercially licensed to others.
In molecular biology, kataegis describes a pattern of localized hypermutations identified in some cancer genomes, in which a large number of highly patterned basepair mutations occur in a small region of DNA. The mutational clusters are usually several hundred basepairs long, alternating between a long range of C→T substitutional pattern and a long range of G→A substitutional pattern. This suggests that kataegis is carried out on only one of the two template strands of DNA during replication. Compared to other cancer-related mutations, such as chromothripsis, kataegis is more commonly seen; it is not an accumulative process but likely happens during one cycle of replication.
Sir Peter John Ratcliffe, FRS, FMedSci is a British physician-scientist who is trained as a nephrologist. He was a practising clinician at the John Radcliffe Hospital, Oxford and Nuffield Professor of Clinical Medicine and head of the Nuffield Department of Clinical Medicine at the University of Oxford from 2004 to 2016. He has been a Fellow of Magdalen College, Oxford since 2004. In 2016 he became Clinical Research Director at the Francis Crick Institute, retaining a position at Oxford as a member of the Ludwig Institute of Cancer Research and director of the Target Discovery Institute, University of Oxford.
Tumour heterogeneity describes the observation that different tumour cells can show distinct morphological and phenotypic profiles, including cellular morphology, gene expression, metabolism, motility, proliferation, and metastatic potential. This phenomenon occurs both between tumours and within tumours. A minimal level of intra-tumour heterogeneity is a simple consequence of the imperfection of DNA replication: whenever a cell divides, a few mutations are acquired—leading to a diverse population of cancer cells. The heterogeneity of cancer cells introduces significant challenges in designing effective treatment strategies. However, research into understanding and characterizing heterogeneity can allow for a better understanding of the causes and progression of disease. In turn, this has the potential to guide the creation of more refined treatment strategies that incorporate knowledge of heterogeneity to yield higher efficacy.
Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity, exogenous and endogenous genotoxin exposures, defective DNA repair pathways, and DNA enzymatic editing.
Personalized onco-genomics (POG) is the field of oncology and genomics that is focused on using whole genome analysis to make personalized clinical treatment decisions. The program was devised at British Columbia's BC Cancer Agency and is currently being led by Marco Marra and Janessa Laskin. Genome instability has been identified as one of the underlying hallmarks of cancer. The genetic diversity of cancer cells promotes multiple other cancer hallmark functions that help them survive in their microenvironment and eventually metastasise. The pronounced genomic heterogeneity of tumours has led researchers to develop an approach that assesses each individual's cancer to identify targeted therapies that can halt cancer growth. Identification of these "drivers" and corresponding medications used to possibly halt these pathways are important in cancer treatment.
Professor Carlos Caldas is a clinician scientist and Professor of Cancer Medicine at the University of Cambridge. He is the Chair of Cancer Medicine at the University of Cambridge, an Honorary Consultant Medical Oncologist at Addenbrooke's Hospital and Director of the Cambridge Breast Cancer Research Unit. He is a fellow of Robinson College, Cambridge and an Emeritus Senior Investigator at the National Institute for Health Research (NIHR).
Cancer pharmacogenomics is the study of how variances in the genome influences an individual’s response to different cancer drug treatments. It is a subset of the broader field of pharmacogenomics, which is the area of study aimed at understanding how genetic variants influence drug efficacy and toxicity.
Samra Turajlic is a medical oncologist and cancer researcher. She leads the cancer dynamics lab at the Francis Crick Institute in London, which focuses on understanding how cancers evolve, as well as working as an oncologist at the Royal Marsden.
Tumour mutational burden is a genetic characteristic of tumorous tissue that can be informative to cancer research and treatment. It is defined as the number of non-inherited mutations per million bases (Mb) of investigated genomic sequence, and its measurement has been enabled by next generation sequencing. High TMB and DNA damage repair mutations were discovered to be associated with superior clinical benefit from immune checkpoint blockade therapy by Timothy Chan and colleagues at the Memorial Sloan Kettering Cancer Center.
Yardena Samuels or Samuels-Lev is an Israeli molecular biologist who is the Director of the Ekard Institute for Cancer Diagnosis Research at the Weizmann Institute of Science. Her research considers the genetic mutations of melanoma.
Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify genetic variations compared to the library of known sequences. International genetics communities have spared no effort from the past and have gradually cooperated to prosecute research projects to determine DNA sequences of the human genome using DNA sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.
Precision diagnostics is a branch of precision medicine that involves managing a patient's healthcare model and diagnosing specific diseases based on omics data analytics.