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Dr Caroline Wright

Dr Caroline Wright

Senior Lecturer (E&R)

01392 408328

RILD Building 04.07

Caroline is a Senior Lecturer in Genomics at UEMS. Her main research interests are in the clinical application of genome-wide sequencing technologies for the diagnosis of rare diseases. Specifically, she is interested in understanding the effect of pathogenic missense variants using in silico protein structural analysis, as well as exploring the policy and ethical issues associated with implementation of genome-wide sequencing in healthcare.

She is also a visiting scientist at the Wellcome Trust Sanger Institute in Cambridge, and is on the management committee for the UK Deciphering Developmental Disorders Study (www.ddduk.org).

Qualifications

  • MA, MSci, PhD (Natural Sciences, University of Cambridge)
  • MA (Healthcare Ethics and Law, University of Manchester)

Career

Caroline trained in natural sciences and chemistry at the University of Cambridge, where she remained to do a PhD in biophysics studying in vitro protein folding and aggregation She subsequently pursued an interest in science policy through working at the Public Health Genomics Foundation, a think-tank focused on the responsible and effective translation of new genetic technologies into healthcare Prior to moving to Exeter, she worked at the Wellcome Trust Sanger Institute in Cambridge managing the Deciphering Developmental Disorders Study (www.ddduk.org), a UK-wide study investigating the genetic causes of severe undiagnosed developmental disorders study in collaboration with the NHS regional genetics services She was appointed Senior Lecturer in genomics at the University of Exeter Medical School in 2017.

Links

Research

Research interests

My main research interests are in the clinical application of genome-wide sequencing technologies for the diagnosis of diseases. I do collaborative, interdisciplinary translational research in three areas:

  1. Development and evaluation of genomic variant filtering pipelines for rare disease diagnosis
  2. Analysis of the effect of damaging missense mutations on protein structure, stability and function
  3. Assessing and advising on the ethical and policy implications of new genetic technologies, such as data sharing and incidental findings

Research networks

  • Deciphering Developmental Disorders Study (www.ddduk.org),
  • Validation and Feedback GeCIP for the 100,000 Genomes Project (www.genomicsengland.co.uk)
  • Transforming Genetic Medicine Initative (www.thetgmi.org)
  • Curating the Clinical Genome (https://www.clinicalgenome.org/events-news/events-conferences/curating-the-clinical-genome-2017/)

 

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, et al (2017). Prevalence and architecture of de novo mutations in developmental disorders. NATURE, 542(7642), 433-+. Author URL.
Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, Parker M (2017). Returning genome sequences to research participants: Policy and practice. Wellcome Open Research, 2, 15-15.
Evers JMG, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, et al (2017). Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Hum Mol Genet, 26(3), 519-526. Abstract.  Author URL.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2016). Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. European Journal of Human Genetics, 24(1), 21-29. Abstract.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SHA, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, et al (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060-1065. Abstract.
Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV, Wright CF, et al (2016). Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: Application to the WD40 domain. Human Molecular Genetics, 25(5), 927-935. Abstract.
Wright CF, Hurles ME, Firth HV (2016). Principle of proportionality in genomic data sharing. Nature Reviews Genetics, 17(1), 1-2.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, et al (2015). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet, 47(11), 1363-1369. Abstract.  Author URL.
Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF, Bevan AP, Hurles ME, Firth HV, Swaminathan GJ (2015). Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Human Mutation, 36(10), 941-949. Abstract.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, Van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, et al (2015). Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314. Abstract.
Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. NATURE, 519(7542), 223-+. Author URL.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. Abstract.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2015). No expectation to share incidental findings in genomic research. The Lancet, 385(9975).
Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M (2015). Potential research participants support the return of raw sequence data. Journal of Medical Genetics, 52(8), 571-574. Abstract.
Wright CF, Zimmern RL (2014). Conceptual issues for screening in the genomic era - time for an update?. Epidemiology Biostatistics and Public Health, 11(4), 1-8. Abstract.
Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, Bevan AP, Swaminathan GJ (2014). DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Research, 42(D1). Abstract.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, et al (2014). The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Research, 42(D1). Abstract.
Middleton A, Parker M, Wright CF, Bragin E, Hurles ME (2013). Empirical research on the ethics of genomic research. American Journal of Medical Genetics, Part A, 161(8), 2099-2101.
Moorthie S, Hall A, Wright CF (2013). Informatics and clinical genome sequencing: Opening the black box. Genetics in Medicine, 15(3), 165-171. Abstract.
Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV (2013). Policy challenges of clinical genome sequencing. BMJ (Online), 347
Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV (2012). Decipher: Web-based, community resource for clinical interpretation of rare variants in developmental disorders. Human Molecular Genetics, 21(R1). Abstract.
Wright CF, Wei Y, Higgins JP, Sagoo GS (2012). Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Research Notes, 5 Abstract.
Dent THS, Wright CF, Stephan BCM, Brayne C, Janssens ACJW (2012). Risk prediction models: a framework for assessment. Public Health Genomics, 15(2), 98-105. Abstract.
Wright CF, Hall A, Zimmern RL (2011). Regulating direct-to-consumer genetic tests: What is all the fuss about?. Genetics in Medicine, 13(4), 295-300. Abstract.
Moorthie S, Mattocks CJ, Wright CF (2011). Review of massively parallel DNA sequencing technologies. HUGO Journal, 5(1-4), 1-12. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): Explanation and elaboration. Journal of Clinical Epidemiology, 64(8).
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Clinical Investigation, 41(9), 1010-1035. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Epidemiology, 26(4), 313-337. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Human Genetics, 19(5). Abstract.
Firth HV, Wright CF (2011). The Deciphering Developmental Disorders (DDD) study. Developmental Medicine and Child Neurology, 53(8), 702-703.
Wright CF, Kroese M (2010). Evaluation of genetic tests for susceptibility to common complex diseases: Why, when and how?. Human Genetics, 127(2), 125-134. Abstract.
Burke W, Burton H, Hall AE, Karmali M, Khoury MJ, Knoppers B, Meslin EM, Stanley F, Wright CF, Zimmern RL, et al (2010). Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?. Genetics in Medicine, 12(12), 785-791. Abstract.
Hall A, Bostanci A, Wright CF (2010). Non-invasive prenatal diagnosis using cell-free fetal DNA technology: Applications and implications. Public Health Genomics, 13(4), 246-255. Abstract.
Wright CF, Brice P, Stewart A, Burton H (2010). Realising the benefits of genetics for health. The Lancet, 376(9750), 1370-1371.
Wright CF, Gregory-Jones S (2010). Size of the direct-to-consumer genomic testing market. Genetics in Medicine, 12(9). Abstract.
Burton H, Wright CF, Zimmern R (2009). A new strategic phase for genomic medicine in UK health services. Genome Medicine, 1(10), 93-93.
Wright CF, Hall A, Matthews FE, Brayne C (2009). Biomarkers, Dementia, and Public Health. Annals of the New York Academy of Sciences, 1180(1), 11-19.
Wright CF, Chitty LS (2009). Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ, 339(jul06 2), b2451-b2451.
Wright CF, Burton H (2008). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update, 15(1), 139-151.
Wright CF, Teichmann SA, Clarke J, Dobson CM (2005). The importance of sequence diversity in the aggregation and evolution of proteins. Nature, 438(7069), 878-881.
Wright CF, Christodoulou J, Dobson CM, Clarke J (2004). The importance of loop length in the folding of an immunoglobulin domain. Protein Engineering Design and Selection, 17(5), 443-453.
Wright CF, Steward A, Clarke J (2004). Thermodynamic Characterisation of Two Transition States Along Parallel Protein Folding Pathways. Journal of Molecular Biology, 338(3), 445-451.
Wright CF, Lindorff-Larsen K, Randles LG, Clarke J (2003). Parallel protein-unfolding pathways revealed and mapped. Nature Structural Biology, 10(8), 658-662.

Chapters

Wright CF, Middleton A, Parker M (2014). Ethical, legal and social issues in clinical genomics. In  (Ed) Genomic Medicine Principles and Practice, Oxford University Press (UK). Abstract.
Wright C, MacArthur DG (2012). Direct-to-Consumer Genetic Testing. In  (Ed) Molecular Genetics and Personalized Medicine, Springer Science & Business Media. Abstract.
Wright CF, Zimmern RL (2010). Quality issues in the evaluation and regulation of genetic testing services: a public health approach. In  (Ed) Quality Issues in Clinical Genetic Services, 267-275.  Abstract.

Publications by year


2017

McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, et al (2017). Prevalence and architecture of de novo mutations in developmental disorders. NATURE, 542(7642), 433-+. Author URL.
Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles ME, Parker M (2017). Returning genome sequences to research participants: Policy and practice. Wellcome Open Research, 2, 15-15.
Evers JMG, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, et al (2017). Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Hum Mol Genet, 26(3), 519-526. Abstract.  Author URL.

2016

Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2016). Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. European Journal of Human Genetics, 24(1), 21-29. Abstract.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SHA, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, et al (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060-1065. Abstract.
Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV, Wright CF, et al (2016). Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: Application to the WD40 domain. Human Molecular Genetics, 25(5), 927-935. Abstract.
Wright CF, Hurles ME, Firth HV (2016). Principle of proportionality in genomic data sharing. Nature Reviews Genetics, 17(1), 1-2.

2015

Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, et al (2015). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet, 47(11), 1363-1369. Abstract.  Author URL.
Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF, Bevan AP, Hurles ME, Firth HV, Swaminathan GJ (2015). Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Human Mutation, 36(10), 941-949. Abstract.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, Van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, et al (2015). Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314. Abstract.
Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. NATURE, 519(7542), 223-+. Author URL.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. Abstract.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2015). No expectation to share incidental findings in genomic research. The Lancet, 385(9975).
Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M (2015). Potential research participants support the return of raw sequence data. Journal of Medical Genetics, 52(8), 571-574. Abstract.

2014

Wright CF, Zimmern RL (2014). Conceptual issues for screening in the genomic era - time for an update?. Epidemiology Biostatistics and Public Health, 11(4), 1-8. Abstract.
Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, Bevan AP, Swaminathan GJ (2014). DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Research, 42(D1). Abstract.
Wright CF, Middleton A, Parker M (2014). Ethical, legal and social issues in clinical genomics. In  (Ed) Genomic Medicine Principles and Practice, Oxford University Press (UK). Abstract.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, et al (2014). The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Research, 42(D1). Abstract.

2013

Middleton A, Parker M, Wright CF, Bragin E, Hurles ME (2013). Empirical research on the ethics of genomic research. American Journal of Medical Genetics, Part A, 161(8), 2099-2101.
Moorthie S, Hall A, Wright CF (2013). Informatics and clinical genome sequencing: Opening the black box. Genetics in Medicine, 15(3), 165-171. Abstract.
Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV (2013). Policy challenges of clinical genome sequencing. BMJ (Online), 347

2012

Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV (2012). Decipher: Web-based, community resource for clinical interpretation of rare variants in developmental disorders. Human Molecular Genetics, 21(R1). Abstract.
Wright C, MacArthur DG (2012). Direct-to-Consumer Genetic Testing. In  (Ed) Molecular Genetics and Personalized Medicine, Springer Science & Business Media. Abstract.
Wright CF, Wei Y, Higgins JP, Sagoo GS (2012). Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Research Notes, 5 Abstract.
Dent THS, Wright CF, Stephan BCM, Brayne C, Janssens ACJW (2012). Risk prediction models: a framework for assessment. Public Health Genomics, 15(2), 98-105. Abstract.

2011

Wright CF, Hall A, Zimmern RL (2011). Regulating direct-to-consumer genetic tests: What is all the fuss about?. Genetics in Medicine, 13(4), 295-300. Abstract.
Moorthie S, Mattocks CJ, Wright CF (2011). Review of massively parallel DNA sequencing technologies. HUGO Journal, 5(1-4), 1-12. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): Explanation and elaboration. Journal of Clinical Epidemiology, 64(8).
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Clinical Investigation, 41(9), 1010-1035. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Epidemiology, 26(4), 313-337. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Human Genetics, 19(5). Abstract.
Firth HV, Wright CF (2011). The Deciphering Developmental Disorders (DDD) study. Developmental Medicine and Child Neurology, 53(8), 702-703.

2010

Wright CF, Kroese M (2010). Evaluation of genetic tests for susceptibility to common complex diseases: Why, when and how?. Human Genetics, 127(2), 125-134. Abstract.
Burke W, Burton H, Hall AE, Karmali M, Khoury MJ, Knoppers B, Meslin EM, Stanley F, Wright CF, Zimmern RL, et al (2010). Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?. Genetics in Medicine, 12(12), 785-791. Abstract.
Hall A, Bostanci A, Wright CF (2010). Non-invasive prenatal diagnosis using cell-free fetal DNA technology: Applications and implications. Public Health Genomics, 13(4), 246-255. Abstract.
Wright CF, Zimmern RL (2010). Quality issues in the evaluation and regulation of genetic testing services: a public health approach. In  (Ed) Quality Issues in Clinical Genetic Services, 267-275.  Abstract.
Wright CF, Brice P, Stewart A, Burton H (2010). Realising the benefits of genetics for health. The Lancet, 376(9750), 1370-1371.
Wright CF, Gregory-Jones S (2010). Size of the direct-to-consumer genomic testing market. Genetics in Medicine, 12(9). Abstract.

2009

Burton H, Wright CF, Zimmern R (2009). A new strategic phase for genomic medicine in UK health services. Genome Medicine, 1(10), 93-93.
Wright CF, Hall A, Matthews FE, Brayne C (2009). Biomarkers, Dementia, and Public Health. Annals of the New York Academy of Sciences, 1180(1), 11-19.
Wright CF, Chitty LS (2009). Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ, 339(jul06 2), b2451-b2451.

2008

Wright CF, Burton H (2008). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update, 15(1), 139-151.

2005

Wright CF, Teichmann SA, Clarke J, Dobson CM (2005). The importance of sequence diversity in the aggregation and evolution of proteins. Nature, 438(7069), 878-881.

2004

Wright CF, Christodoulou J, Dobson CM, Clarke J (2004). The importance of loop length in the folding of an immunoglobulin domain. Protein Engineering Design and Selection, 17(5), 443-453.
Wright CF, Steward A, Clarke J (2004). Thermodynamic Characterisation of Two Transition States Along Parallel Protein Folding Pathways. Journal of Molecular Biology, 338(3), 445-451.

2003

Wright CF, Lindorff-Larsen K, Randles LG, Clarke J (2003). Parallel protein-unfolding pathways revealed and mapped. Nature Structural Biology, 10(8), 658-662.

MSc Genomic Medicine (Introductory Module)

Expertise:

  • Genomics of rare disease
  • Protein structure and folding
  • Bioethics and genethics

 

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