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University of Exeter Medical School

 Jasmin Hopkins

Jasmin Hopkins

PhD Student

 jh1004@exeter.ac.uk

 RILD Building 

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK


Overview

Jasmin graduated from the University of Exeter in 2020 with a degree in Biological Sciences, specializing in Molecular and Cellular Biology. During her undergraduate degree she also worked part time for the Molecular Genetics team at the Royal Devon and Exeter Hospital. In autumn of 2020 she began her PhD, focused on the discovery of novel genetic causes of disorders of insulin secretion, such as hyperinsulinism and monogenic diabetes, supervised by Dr Thomas Laver, Dr Sarah Flanagan and Dr Matthew Johnson.

Qualifications

  • BSc Biological Sciences (Molecular and Cellular), University of Exeter

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Research

Research interests

In Jasmin’s undergraduate dissertation project, she investigated a role of inverted-formin 2 in peroxisomal constriction, an uncharacterized stage of peroxisomal biogenesis, and explored the potential pathophysiological roles of this protein in human disease. She is interested in the genetics of human disease, particularly in rare monogenic disorders. The aim of her PhD is to identify new genes and genetic mechanisms causing monogenic disorders of insulin secretion.

Research projects

  • Discovering novel genetic causes of disorders of insulin secretion - PhD in Medical Studies

Grants/Funding:

  • E3 PhD studentship

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Publications

Journal articles

Wakeling M, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, et al (In Press). A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1. Nature Genetics Abstract.
Hopkins J, Childs A, Houghton J, Hewat T, Atapattu N, Johnson M, Patel K, Laver T, Flanagan S (In Press). Hyperinsulinaemic hypoglycaemia diagnosed in childhood can be monogenic. The Journal of Clinical Endocrinology & Metabolism Abstract.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, et al (2024). Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. Eur J Hum Genet Abstract.  Author URL.
Hopkins JJ, Wakeling MN, Johnson MB, Flanagan SE, Laver TW (2023). REVEL is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants. Human Mutation, 2023, 1-6. Abstract.

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