Nicole Soranzo is an Italian-British senior group leader in human genetics at the

Wellcome Sanger Institute 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. It is located on the Wellcome Ge ...

, Professor of Human Genetics at the

University of Cambridge , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

. 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, 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.

Education

Soranzo graduated with a

Bachelor of Science A Bachelor of Science (BS, BSc, SB, or ScB; from the Latin ') is a bachelor's degree awarded for programs that generally last three to five years. The first university to admit a student to the degree of Bachelor of Science was the University of ...

degree from the University of Milan in Italy, and completed her

PhD PHD or PhD may refer to: * Doctor of Philosophy (PhD), an academic qualification Entertainment * '' PhD: Phantasy Degree'', a Korean comic series * ''Piled Higher and Deeper'', a web comic * Ph.D. (band), a 1980s British group ** Ph.D. (Ph.D. albu ...

at the University of Dundee on

genetic variation Genetic variation is the difference in DNA among individuals or the differences between populations. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, ...

in native European populations of Scots pine.

Career and research

After her postdoctoral training in quantitative population and statistical genetics at

University College London , mottoeng = Let all come who by merit deserve the most reward , established = , type = Public research university , endowment = £143 million (2020) , budget = ...

(UK), Soranzo worked for the pharmaceutical company,

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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

and in 2009 started her own group there. She became a Principal of Research at the

School of Clinical Medicine in 2013, and a Professor of Human Genetics in 2015. 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 Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. The ...

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, and a large genetic and epigenetic database for different blood cell types in the Blueprint project. The

National Institute for Health Research The National Institute for Health and Care Research (NIHR) is the British government’s major funder of clinical, public health, social care and translational research. With a budget of over £1.2 billion in 2020–21, its mission is to "impr ...

(NIHR) Blood and Transplant Research Units (BTRU) Genetics Theme, led by Soranzo, was motivated by a need of the

National Health Service The National Health Service (NHS) is the umbrella term for the publicly funded healthcare systems of the United Kingdom (UK). Since 1948, they have been funded out of general taxation. There are three systems which are referred to using the " ...

(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. Soranzo chaired the UK10K Cohorts project, 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, 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, focusing on determinants of blood donation related biomarkers.

Awards and honours

* 2019 Elected a member

European Molecular Biology Organisation The European Molecular Biology Organization (EMBO) is a professional, non-profit organization of more than 1,800 life scientists. Its goal is to promote research in life science and enable international exchange between scientists. It co-funds cour ...

(EMBO) * 2018 Elected a Fellow of the Academy of Medical Sciences (FMedSci) * 2016 Italian Female Researcher and Scientist of Impact, National Observatory for Women's Health, Italy * 2016 Highly Cited Researcher,

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* 2015 Highly Cited Researcher, Thomson Reuters * 2014 Movers and Shakers in BioBusiness, BioBeats, UK * 2014 Top Italian Scientist, Virtual Italian Academy, Italy * 2014 Highly Cited Researcher, Thomson Reuters * 2012 Suffrage Science award nominated by Dame Sally Davies * 2010 Paula und Richard von Hertwig-Preis for International Cooperation, Germany

References

External links

Google Scholar
{{DEFAULTSORT:Soranzo, Nicole Fellows of the Academy of Medical Sciences (United Kingdom) Members of the European Molecular Biology Organization 21st-century Italian scientists Italian women scientists Italian geneticists Alumni of the University of Dundee Year of birth missing (living people) Living people 21st-century Italian women