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 Matthew Johnson

Matthew Johnson

Associate Research Fellow

+44 (0)1392 408325

RILD Building 03.01

After graduating from the University of Birmingham in 2011 Matt joined the monogenic diabetes research group at Exeter Medical School. He started his PhD under the supervision of Dr Sarah Flanagan and Professors Andrew Hattersley and Sian Ellard in 2014, which focussed on studying the genetics and phenotypes of monogenic autoimmune diabetes. This involved harnessing cutting edge sequencing technologies to look for new genetic causes and improve the diagnosis and eventual treatment of these patients.

Upon successfully completing his PhD Matt continues to pursue his research on monogenic forms of autoimmune disease in Exeter as a postdoctoral researcher. His main research interests are studying rare genetic forms of autoimmune diabetes with the long-term goal of identifying the overlapping pathways that lead to the development of type 1 diabetes. The ethos of the monogenic diabetes research group is that biomedical research should always seek to benefit patients, and the rapid translation of research findings to diagnostic services is something Matt is passionate about.

Matt has so far published 16 research papers in international journals, on 4 of which he is the first author. He has been an invited speaker and presented his work at international diabetes and genetics conferences and was awarded the ‘Best Oral Presentation’ prize at the European Association for the Study of Diabetes (EASD) Study Group on the Genetics of Diabetes conference in 2017. He has also been awarded travel grants; one from the Genetics society in order to attend the American Society for Human Genetics Meeting in Vancouver, Canada, and another from the EASD to attend their conference in Lisbon, Portugal.

Further information on the work of the monogenic diabetes team for patients, clinicians and researchers can be found at their website: www.diabetesgenes.org.

Qualifications

PhD, Molecular Genetics, University of Exeter, UK (2017)

BSc (hons) Biological Sciences, University of Birmingham, UK (2011)

 

Links

Research

Research interests

Research interests

Gene discovery and genotype/phenotype relationships in monogenic autoimmunity.

Using rare monogenic autoimmune diabetes to aid in the stratification of type 1 diabetes.

Application and translation of emerging genetic technologies in the diagnosis of patients with monogenic autoimmunity.

Research projects

Research projects

New insights from neonatal diabetes - Wellcome Trust funded, PI’s Prof Andrew Hattersley and Prof Sian Ellard)

Understanding extremely early-onset type 1 diabetes - Helmsley Charitable Foundation, PI’s Dr Richard Oram and Dr Tim Tree (Kings College London)

Links


Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (In Press). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia Full text.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (In Press). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.  Full text.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (In Press). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.
Iacovazzo D, Flanagan S, Walker E, Quezado R, Antonio de Sousa F, Caswell R, Johnson MBJ, Wakeling M, Brandle M, Guo M, et al (2018). A MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proceedings of the National Academy of Sciences Full text.
Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (2017). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.  Full text.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2017). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes Abstract.  Author URL.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ (2016). Low IgE is a Useful Tool to Identify STAT3 Gain-of-Function Mutations. Clin Chem, 62(11), 1536-1538. Author URL.  Full text.
Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.  Full text.
Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract.  Author URL.

Publications by year


In Press

Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (In Press). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia Full text.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (In Press). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.  Full text.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (In Press). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.

2018

Iacovazzo D, Flanagan S, Walker E, Quezado R, Antonio de Sousa F, Caswell R, Johnson MBJ, Wakeling M, Brandle M, Guo M, et al (2018). A MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proceedings of the National Academy of Sciences Full text.

2017

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (2017). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.  Full text.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2017). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes Abstract.  Author URL.

2016

Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ (2016). Low IgE is a Useful Tool to Identify STAT3 Gain-of-Function Mutations. Clin Chem, 62(11), 1536-1538. Author URL.  Full text.
Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.  Full text.
Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract.  Author URL.

  • University of Exeter Medical School – supervision of MSc research projects
  • Royal Devon and Exeter NHS foundation trust – Molecular genetics 
  • University of Exeter Medical School - Genetic Diabetes Nurses
  • University of Exeter (Biosciences) – Laboratory demonstrator

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