Hyperinsulinism
The Hyperinsulinism group's mission is to improve understanding of the genetics of congenital hyperinsulinism leading to improved patient care. The multi-disciplinary team consists of Molecular Geneticists, Data Scientists, Bioinformaticians, Clinical Scientists and Doctors who aim to:
- Define the genetic aetiology of novel subtypes of congenital hyperinsulinism
- Define the clinical features, and pathophysiology of congenital hyperinsulinism
- Develop the best approaches to diagnose congenital hyperinsulinism
- Use congenital hyperinsulinism to understand physiology and broader concepts
- Understand the relationship between hyperinsulinism and other related disorders of insulin secretion.
Name | Role |
---|---|
Professor Sarah Flanagan | Associate Professor of Genomic Medicine and Wellcome Trust Senior Research Fellow |
Dr Matthew Wakeling | Independent Research Fellow |
Dr Thomas Laver | Lecturer in Diabetes |
Dr Kashyap Patel | Wellcome Trust Career Development Fellow, Honorary Consultant in Diabetes & Endocrinology |
Dr Kevin Colclough | Clinical Scientist, Joint head NHS MODY genetic testing service |
Dr Jayne Houghton | Clinical Scientist, Joint head NHS MODY genetic testing service |
Dr Rachel van Heugten | Healthcare Scientist |
Dr Jessica Hopkinson | Post Doctoral Research Fellow |
Jasmin Hopkins | PhD Student |
Key publications
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D..
J Am Soc Nephrol. 2017 Aug;28(8):2529-2539.
Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S.
Pediatr Diabetes. 2017 Jun;18(4):320-323.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.
Am J Hum Genet. 2013 10;92(1):131-6
Banerjee I, Senniappan S, Laver TW, Caswell R, Zenker M, Mohnike K, Cheetham T, Wakeling MN, Ismail D, Lennerz B, Splitt M, Berberoğlu M, Empting S, Wabitsch M, Pötzsch S, Shah P, Siklar Z, Verge CF, Weedon MN, Ellard S, Hussain K, Flanagan SE.
Wellcome Open Res. 2019 Oct 8;4:149.
Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, Ellard S, Shah P, Banerjee I, Flanagan SE.
PLoS One. 2020 Feb 6;15(2)
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S.
Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium, Richardson SJ, Flanagan SE.
Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. PMID: 36333503.
The group has active collaborations with:
- University of Manchester
- Manchester Children’s Hospital
- Great Ormond Street Hospital for Children
- Imperial College London
- Hôpital Universitaire Necker Enfants Malades, Paris, France
- University of Chicago, USA
- Stanford University, USA
- Congenital Hyperinsulinism International, USA
The group's funders include: The Wellcome Trust, Diabetes UK and Congenital Hyperinsulinism International.
The Hyperinsulinism research group uses the following research facilities and technologies:
- The Exeter Sequencing Service
- RILD Molecular Biology Resources
- High Performance Computing
More details of all of these can be found here.