Nicole Soranzo | |
---|---|
Education | University of Milan (BSc) University of Dundee (PhD) |
Awards | Suffrage Science award (2012) EMBO Member (2019) [1] |
Scientific career | |
Fields | Genetics Genomics Complex traits |
Institutions | Human Technopole Wellcome Sanger Institute University of Cambridge University College London Johnson & Johnson |
Website | www |
Nicole Soranzo FMedSci is an Italian-British senior group leader in human genetics at the Wellcome Sanger Institute, [2] Professor of Human Genetics at the University of Cambridge. [3] [4] She is an internationally recognised Human Geneticist who has focused on the application of cutting edge genomic technologies to study the spectrum of human genetic variation associated with cardio-metabolic and immune diseases. She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio-metabolic diseases and their risk factors as well as establishing the HaemGen consortium, [5] which is a worldwide effort to discover genetic determinants of blood cell formation and also interpretation of the downstream consequences of sequence variation through a host of integrative analyses and functional approaches.
Soranzo graduated with a Bachelor of Science degree from the University of Milan in Italy, and completed her PhD at the University of Dundee on genetic variation in native European populations of Scots pine.
After her postdoctoral training in quantitative population and statistical genetics at University College London (UK), Soranzo worked for the pharmaceutical company, Johnson and Johnson in the US, where she used human genetics to assist drug discovery and pharmacogenomics. In 2007, she returned to the UK to work at the Wellcome Sanger Institute and in 2009 started her own group there. She became a Principal of Research at the University of Cambridge School of Clinical Medicine in 2013, and a professor of Human Genetics in 2015. [6]
Soranzo's group's research efforts aim at understanding how genetic factors interact with other non-genetic and epigenetic factors to influence phenotypic variation. They use large-scale genome sequencing data, epigenetic profiling and molecular traits such as gene expression and metabolomics. Soranzo and her team have generated rich genomic data resources for the scientific community, such as whole-genome sequence and phenotype data for population cohorts in the UK10K project, [7] and a large genetic and epigenetic database for different blood cell types in the Blueprint project. [8]
The National Institute for Health Research (NIHR) Blood and Transplant Research Units (BTRU) Genetics Theme, led by Soranzo, was motivated by a need of the National Health Service (NHS) Blood and Transplant Unit to move towards a more personalised service. Results are expected to contribute to understanding of how individual genetic profiles affect disease risk and treatment in the population at large, informing the implementation of personalised medicine strategies in the UK. [9]
Soranzo chaired the UK10K Cohorts project, [10] one of the first to use whole-genome sequencing to investigate the role of rare genetic variants and the Human Variation working group of the EU FP7 Blueprint project, [11] an international effort to characterise the interplay of genetic and epigenetic factors on gene expression in three main immune cell types.
Soranzo is currently the leader of the Genetics Theme of the NIHR Blood & Transplant Research Unit (BTRU) in Population Health and Genomics, [12] focusing on determinants of blood donation related biomarkers. [13]
An epigenome consists of a record of the chemical changes to the DNA and histone proteins of an organism; these changes can be passed down to an organism's offspring via transgenerational stranded epigenetic inheritance. Changes to the epigenome can result in changes to the structure of chromatin and changes to the function of the genome.
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 following outline is provided as an overview of and topical guide to genetics:
Richard Mott is Weldon Professor of Computational and Statistical Genetics in the research department of Genetics, Evolution and Environment at University College London. He was previously at the Wellcome Centre for Human Genetics and a Professor by Research at Oxford University.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities and pathogenic sequence variants, from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.
Allan Bradley FRS is a British geneticist at the Wellcome Trust Sanger Institute.
The International Human Epigenome Consortium (IHEC) is a scientific organization, founded in 2010, that helps to coordinate global efforts in the field of Epigenomics. The initial goal was to generate at least 1,000 reference (baseline) human epigenomes from different types of normal and disease-related human cell types.
Wolf Reik FRS is a German molecular biologist and an honorary group leader at the Babraham Institute, honorary professor of Epigenetics at the University of Cambridge and associate faculty at the Wellcome Trust Sanger Institute. He was announced as the director of Altos Labs Cambridge Institute when the company launched on 19 January 2022.
Anna Middleton is a social scientist and genetic counsellor. She is Head of the Society and Ethics Research group, part of Wellcome Connecting Science, based on the Wellcome Genome Campus. She is also a Professor/Affiliate Lecturer at the Faculty of Education at the University of Cambridge.
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
Anne Carla Ferguson-Smith is a mammalian developmental geneticist. She is the Arthur Balfour Professor of Genetics and Pro-Vice Chancellor for Research and International Partnerships at the University of Cambridge. Formerly head of the Department of Genetics at the University of Cambridge, she is a Fellow of Darwin College, Cambridge and serves as President of the Genetics Society.
Azim Surani is a Kenyan-British developmental biologist who has been Marshall–Walton Professor at the Wellcome Trust/Cancer Research UK Gurdon Institute at the University of Cambridge since 1992, and Director of Germline and Epigenomics Research since 2013.
Jonathan Laurence Marchini is a Bayesian statistician and professor of statistical genomics in the Department of Statistics at the University of Oxford, a tutorial fellow in statistics at Somerville College, Oxford and a co-founder and director of Gensci Ltd. He co-leads the Haplotype Reference Consortium.
Dominic Kwiatkowski was an English medical researcher and geneticist who was head of the parasites and microbes programme at the Wellcome Sanger Institute in Cambridge and a Professor of Genomics at the University of Oxford. Kwiatkowski applied genomics and computational analysis to problems in infectious disease, with the aim of finding ways to reduce the burden of disease in the developing world.
Manolis Kellis is a professor of Computer Science at the Massachusetts Institute of Technology (MIT) in the area of Computational Biology and a member of the Broad Institute of MIT and Harvard. He is the head of the Computational Biology Group at MIT and is a Principal Investigator in the Computer Science and Artificial Intelligence Lab (CSAIL) at MIT.
The Global Alliance for Genomics and Health (GA4GH) is an international consortium that is developing standards for responsibly collecting, storing, analyzing, and sharing genomic data in order to enable an "internet of genomics". GA4GH was founded in 2013.
Sarah Anne Tishkoff is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3, and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation.
Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.
Human epigenome is the complete set of structural modifications of chromatin and chemical modifications of histones and nucleotides. These modifications affect according to cellular type and development status. Various studies show that epigenome depends on exogenous factors.
Folami Ideraabdullah is an American geneticist and assistant professor in the Department of Genetics and the Department of Nutrition at the Gillings School of Global Public Health at the University of North Carolina at Chapel Hill. Ideraabdullah explores how maternal nutrition and environmental toxin exposure affect development through exploring epigenetic changes to DNA. She has found that maternal Vitamin D deficiencies can cause genome-wide changes in methylation patterns that persist for several generations and impact offspring health. Her international collaboration with the University of Witwatersrand represents the first time that metal levels in the placenta have been investigated in relation to birth outcomes in South Africa.