University of Exeter Medical School

Dr Elisa De Franco

Dr Elisa De Franco

Senior Research Fellow and RD Lawrence Fellow

 e.de-franco@exeter.ac.uk

 +44 (0) 1392 408232

 RILD Building 3.01

 

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

Overview

Following graduation from the University of Turin, in Italy, Elisa joined the Monogenic diabetes group in Exeter in 2011 as a PhD student. The PhD was funded by the European Union as part of the Marie Curie Initial Training netweork - BOLD (Biology of Liver and Pancreas Disease) project. During her PhD Elisa investigated the role of transcription factors important for pancreatic development in pathogenesis of neonatal diabetes.

Following completion of her PhD in 2014, Elisa has continued her research to identify of novel genetic causes of neonatal diabetes using whole genome sequencing, first as a a Naomi Berrie Research fellow in Diabetes (2015-2016) and then as a post-doctoral research fellow on a Wellcome Trust grant. During this time Elisa has contributed to the identification of  novel genetic causes of neonatal diabetes, with the latest one being recently published on the Journal of Clinical Investigation (De Franco et al 2020 PMID: 33164986).

Elisa has also worked part-time as a Healthcare scientist as part of the NHS Exeter exome service between August 2017 and August 2019. During this time she has worked on analysed exome sequencing data from patients with a wide range of disease and she has contributed to the identification of novel genetic causes of various developmental disorders.

On September 1st 2019, Elisa has been awarded one of the very competitive Diabetes UK RD Lawrence fellowships which will fund her research for 5 years. During this time Elisa will work on developing her research team focussed on finding novel genes important for haman pancreatic development in order to bridge the gap between gene discovery and cell-based human therapy in type 1 diabetes.

In 2023, Elisa was one of the awardees of the European Foundation for the Study of Diabetes/Novo Nordisk Future Leaders programme which will fund her research into the genes essential for beta cell survival until 2028.

Elisa is also leading scientist on the neonatal diabetes research genetic testing service (http://www.diabetesgenes.org/content/genetic-testing-neonatal-diabetes). If you would like to contact Elisa regarding genetic testing for neonatal diabetes please email her at E.De-Franco@exeter.ac.uk or elisa.defranco@nhs.net if you are sending sensitive information. 

Qualifications

  • 2008: BSc (University of Turin – Italy)
  • 2010: MSc (University of Turin – Italy)
  • 2014: PhD (Peninsula College of Medicine & Dentistry - Universities of Exeter & Plymouth)

Links

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Research

Research interests

Research projects

  • Applying human genetics to identifying mechanisms essential for beta-cell survival.
  • Human-specific gene regulation in pancreatic beta-cell development (Wellcome Trust)
  • Identifying new subtypes of syndromic diabetes to provide novel insights into diabetes (Diabetes UK)
  • Identifying novel insulin secretion disorders caused by mitochondrial dysfunction to highlight fundamental pathways within the β-cell (Diabetes UK) 
  • Bridging the gap between gene discovery and cell-based human therapy in type 1 diabetes (Diabetes UK)
  • New insights into development and function of human beta cells by gene discovery in consanguineous patients (EFSD)
  • New insights into development and function of human β-cells by gene discovery in early onset diabetes (DRWF)
  • Investigating the genetic basis of neonatal diabetes (Naomi Berrie Fellowship in Diabetes Research)
  • New insights from neonatal diabetes. Wellcome Trust Funding to Prof Andrew Hattersley and Prof Sian Ellard
  • Biology of Liver and Pancreatic Development and Disease (FP7-PEOPLE-ITN-2008)

 

Research grants

  • 2022 Wellcome Trust
    Wellcome Trust Collaborative Award In Science: Human-specific gene regulation in pancreatic beta-cell development
  • 2021 Diabetes UK
    Diabetes UK Project Grant: Identifying new subtypes of syndromic diabetes to provide novel insights into diabetes
  • 2019 Diabetes UK
    RD Lawrence Fellowship: Bridging the gap between gene discovery and cell-based human therapy in type 1 diabetes, £ 476,527
  • 2018 European Foundation for the Study of Diabetes
    Rising Star Fellowship: Investigating development and function of human β-cells by gene discovery in neonatal diabetes, £26,000
  • 2017 Diabetes Research and Wellness Foundation
    Pump Priming grant: New insights into development and function of human beta-cells by gene discovery in early-onset diabetes, £20,000
  • 2014 Naomi Berrie Foundation
    Naomi Berrie Fellowship in Diabetes research: Investigating the genetic basis of neonatal diabetes
  • 0 EFSD
    EFSD/Novo Nordisk Foundation Future Leaders Award: Applying human genetics to identifying mechanisms essential for β-cell survival

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Publications

Journal articles

De Franco E, Wakeling M, Frew R, Russ-Silsby J, Peters C, Marks S, Hattersley A, Flanagan S (In Press). A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Clinical Genetics
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.
Demirbilek H, Cayir A, Flanagan S, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, et al (In Press). Clinical characteristics and long-term follow-up of patients with diabetes due to PTF1A enhancer mutations. Journal of Clinical Endocrinology and Metabolism
De Franco E, Wakeling M, Flanagan S, Hattersley A (In Press). Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO Molecular Medicine
De Franco E, Flanagan S, Johnson M (In Press). Neonatal and early onset diabetes in Ukraine: atypical features and mortality. Diabetic Medicine
De Franco E, Owens N, Hattersley A, Flanagan S, Wakeling M, Johnson M, Wright C (In Press). Primate-specific ZNF808 is essential for pancreatic development in humans. Nature Genetics
Johnson M, Patel K, De Franco E, McDonald T, Hudson M, Dobbs R, Ellard S, Flanagan S, Hattersley A, Oram R, et al (In Press). Type 1 Diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta-cells. Diabetologia
Hassan SS, Musa SA, De Franco E, Donis Frew R, Babiker OO, Mohamadsalih GF, Ibrahim AA, Abu Samra S, Abdullah MA (2024). Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: a 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan. Pediatric Diabetes, 2024, 1-10. Abstract.
Wyatt RC, Olek S, De Franco E, Samans B, Patel K, Houghton J, Walter S, Schulze J, Bacchetta R, Hattersley AT, et al (2023). FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome. J Clin Immunol, 43(3), 662-669. Abstract.  Author URL.
Aly HH, De Franco E, Flanagan SE, Elhenawy YI (2023). MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis. J Diabetes Investig, 14(4), 516-521. Abstract.  Author URL.
Hughes AE, De Franco E, Freathy RM, Fetal Insulin and Growth Consortium, Flanagan SE, Hattersley AT (2023). Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. J Clin Invest, 133(6).  Author URL.
Amaratunga SA, Hussein Tayeb T, Muhamad Sediq RN, Hama Salih FK, Dusatkova P, Wakeling MN, De Franco E, Pruhova S, Lebl J (2023). Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq. Diabetologia, 67(1), 113-123. Abstract.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, et al (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. Nature Medicine, 29(10), 2438-2457.
Russ-Silsby J, Patel KA, Laver TW, Hawkes G, Johnson MB, Wakeling MN, Patil PP, Hattersley AT, Flanagan SE, Weedon MN, et al (2023). The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus. Diabetes, 72(11), 1729-1734. Abstract.  Author URL.
Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J, ADA/EASD PMDI, Misra S, et al (2023). The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion. Commun Med (Lond), 3(1). Abstract.  Author URL.
Abdelmeguid Y, Mowafy EW, Marzouk I, Franco ED, ElSayed S (2022). Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt. Ann Pediatr Endocrinol Metab, 27(3), 214-222. Abstract.  Author URL.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M, EXE-T1D Consortium, De Franco E, Ellard S, et al (2022). Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes. Diabetologia, 65(7), 1179-1184. Abstract.  Author URL.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, et al (2022). First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders. Clin Epigenetics, 14(1). Abstract.  Author URL.
Ngoc CTB, Dung VC, De Franco E, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Hoang NH, Dien TM, et al (2022). Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those with INS Gene Mutations. Frontiers in Endocrinology, 13
Globa E, Zelinska N, Lebl J, De Franco E, Colclough K (2022). Genetická různorodost monogenního diabetu na Ukrajině. Česko-Slovenská Pediatrie, 77(4), 214-214.
Pachapure SS, Badiger S, Tadakanahalli S, De Franco E, Manthale A, Kulkarni V (2022). Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by GLIS3 mutation: a case report and review of literature. Journal of Pediatric Endocrinology and Diabetes, 2(2), 86-89.
Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2022). SavvyCNV: Genome-wide CNV calling from off-target reads. PLOS Computational Biology, 18(3), e1009940-e1009940. Abstract.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, CAUSES Study, Niyazov D, van Dijk F, Demirdas S, et al (2021). Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. Am J Hum Genet, 108(7), 1342-1349. Abstract.  Author URL.
Splittstoesser V, Vollbach H, Plamper M, Garbe W, De Franco E, Houghton JAL, Dueker G, Ganschow R, Gohlke B, Schreiner F, et al (2021). Case Report: Extended Clinical Spectrum of the Neonatal Diabetes with Congenital Hypothyroidism Syndrome. Front Endocrinol (Lausanne), 12 Abstract.  Author URL.
London S, De Franco E, Elias-Assad G, Barhoum MN, Felszer C, Paniakov M, Weiner SA, Tenenbaum-Rakover Y (2021). Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins. Front Endocrinol (Lausanne), 12 Abstract.  Author URL.
Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA-B, Aboelenin HM, Awad MH, Flanagan SE, De Franco E (2021). Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta Diabetologica, 58(12), 1689-1700.
Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö (2021). Genotype and Phenotype Heterogeneity in Neonatal Diabetes: a Single Centre Experience in Turkey. J Clin Res Pediatr Endocrinol, 13(1), 80-87. Abstract.  Author URL.
Hughes AE, De Franco E, Globa E, Zelinska N, Hilgard D, Sifianou P, Hattersley AT, Flanagan SE (2021). Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: a case series and review of clinical features. Pediatr Diabetes, 22(6), 876-881. Abstract.  Author URL.
Støy J, De Franco E, Ye H, Park S-Y, Bell GI, Hattersley AT (2021). In celebration of a century with insulin - Update of insulin gene mutations in diabetes. Mol Metab, 52 Abstract.  Author URL.
Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, et al (2021). Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients with Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes Care, 44(1), 35-42. Abstract.  Author URL.
Can TBN, Tran MD, De Franco E, Ellard S, Houghton JAL, Nguyen NL, Bui PT, Nguyen NK, Flanagan SE, Craig ME, et al (2021). Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. FRONTIERS IN ENDOCRINOLOGY, 12  Author URL.
Ibrahim MN, Laghari TM, Riaz M, Khoso Z, Khan YN, Yasir M, Hanif MI, Flanagan SE, De Franco E, Raza J, et al (2021). Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country. J Pediatr Endocrinol Metab, 34(9), 1095-1103. Abstract.  Author URL.
De Franco E (2021). Neonatal diabetes caused by disrupted pancreatic and β-cell development. Diabetic Medicine
I A, MA M, E DF, V G, S F, J G-H, G M, P R, L P, S E, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.
Akerman I, Maestro MA, De Franco E, Grau V, Flanagan S, García-Hurtado J, Mittler G, Ravassard P, Piemonti L, Ellard S, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene. Cell Rep, 35(2). Abstract.  Author URL.
Shrestha N, De Franco E, Arvan P, Cnop M (2021). Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence. Front Endocrinol (Lausanne), 12 Abstract.  Author URL.
Giannopoulou EZ, Ovcarov O, De Franco E, Kassberger F, Nusser S, Otto MC, Denzer C, Wabitsch M (2021). Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family. J Pediatr Endocrinol Metab, 34(2), 273-276. Abstract.  Author URL.
Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P, et al (2020). A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. Cell Stem Cell, 27(1), 137-146.e6. Abstract.  Author URL.
Oakley-Hannibal E, Ghali N, Pope FM, De Franco E, Ellard S, van Dijk FS, Brady AF (2020). A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. Clin Dysmorphol, 29(1), 69-72.  Author URL.
Abali ZY, De Franco E, Karakilic Ozturan E, Poyrazoglu S, Bundak R, Bas F, Flanagan SE, Darendeliler F (2020). Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: a Single-Centre Experience. Horm Res Paediatr, 93(7-8), 423-432. Abstract.  Author URL.
De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El-Khateeb M, et al (2020). De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction. Diabetes, 69(3), 477-483. Abstract.  Author URL.
E DF, R C, MB J, MN W, a Z, VC D, CT BN, R G, M VJ, M E-K, et al (2020). De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction.
De Franco E (2020). From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes. J Mol Biol, 432(5), 1535-1550. Abstract.  Author URL.
Reichert SC, Li R, a Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard M-JH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, et al (2020). HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. Clin Genet, 98(1), 91-98. Abstract.  Author URL.
Uroic AS, Milenkovic D, De Franco E, Bilic E, Putarek NR, Krnic N (2020). Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation. Journal of Pediatric Genetics, 11(03), 236-239.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA (2020). Transient Neonatal Diabetes: an Etiologic Clue for the Adult Diabetologist. Can J Diabetes, 44(2), 128-130.  Author URL.
De Franco E, Saint‐Martin C, Brusgaard K, Knight Johnson AE, Aguilar‐Bryan L, Bowman P, Arnoux J, Larsen AR, Sanyoura M, Greeley SAW, et al (2020). Update of variants identified in the pancreatic β‐cell K. <sub>ATP</sub>. channel genes. <i>KCNJ11</i>. and. <i>ABCC8</i>. in individuals with congenital hyperinsulinism and diabetes. Human Mutation, 41(5), 884-905.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling M, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, et al (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. Journal of Clinical Investigation, 130
De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, et al (2019). A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. American Journal of Human Genetics, 104(5), 985-989. Abstract.
Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, et al (2019). A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Hum Mol Genet, 28(21), 3543-3551. Abstract.  Author URL.
E DF, RA W, WJ W, CC W, SE F, R C, a G, C T, CJ L, SH G, et al (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development.
Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu C-HW, et al (2019). CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet, 105(6), 1286-1293. Abstract.  Author URL.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract.  Author URL.
Madani H, Elkaffas R, Alkholy B, Musa N, Shaalan Y, Elkaffas R, Hassan M, Hafez M, Flanagan SE, De Franco E, et al (2019). Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM. International Journal of Diabetes in Developing Countries, 39(1), 53-59. Abstract.
Annamalai AK, Ellard S, Shanmugam M, Jai Juganya TP, De Franco E (2019). Juvenile diabetes and visual impairment: Wolfram syndrome. QJM, 112(10), 803-804.  Author URL.
De Franco E, Molecular Genetics UOEMS (2019). Next-generation Sequencing in the Identification of New Genes Causing Beta-cell Dysfunction. US Endocrinology, 15(1).
Lundgren M, De Franco E, Arnell H, Fischler B (2019). Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: a case report. Clin Case Rep, 7(6), 1133-1138. Abstract.  Author URL.
Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2019). SavvyCNV: genome-wide CNV calling from off-target reads. Abstract.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes That is Autoimmune but Not HLA Associated. Diabetes, 68(7), 1528-1535. Abstract.  Author URL.
Asl SN, Vakili R, Vakili S, Soheilipour F, Hashemipour M, Ghahramani S, De Franco E, Yaghootkar H (2019). Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes. J Pediatr Endocrinol Metab, 32(6), 607-613. Abstract.  Author URL.
Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K (2018). A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. J Clin Res Pediatr Endocrinol, 10(2), 175-178. Abstract.  Author URL.
Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (2018). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia
Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H (2018). Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation. J Pediatr Endocrinol Metab, 31(3), 345-348. Abstract.  Author URL.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, et al (2018). Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab, 31(2), 195-204. Abstract.  Author URL.
Savova R, De Franco E, Shaw-Smith C, Georgieva R, Konstantinova M, Archinkova M, Panteleeva E, Kaneva A, Marinov R, Ellard S, et al (2018). Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6. Biotechnology and Biotechnological Equipment, 32(1), 124-129. Abstract.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2018). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes, 126(10), 612-618. Abstract.  Author URL.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S (2018). Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. J Clin Res Pediatr Endocrinol, 10(2), 168-174. Abstract.  Author URL.
Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S (2018). Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. Pediatr Diabetes, 19(5), 898-904. Abstract.  Author URL.
Misra S, Vedovato N, Cliff E, De Franco E, Hattersley AT, Ashcroft FM, Oliver NS (2018). Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment. Diabet Med Abstract.  Author URL.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract.  Author URL.
Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S (2017). An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol, 9(3), 260-264. Abstract.  Author URL.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (2017). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med, 34(4), 582-585. Abstract.  Author URL.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Jain V, Satapathy A, Yadav J, Sharma R, Radha V, Mohan V, De Franco E, Ellard S (2017). Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. Indian Pediatr, 54(6), 467-471. Abstract.  Author URL.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl R, Enczmann J, et al (2017). Der klinische Verlauf beim frühmanifestem T1D ist unabhängig vom HLA DR-DQ Genotyp. Diabetologie und Stoffwechsel, 12(S 01), s1-s84.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). 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.
Gabbay M, Ellard S, De Franco E, Moisés RS (2017). Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. J Clin Res Pediatr Endocrinol, 9(3), 274-277. Abstract.  Author URL.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (2017). Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes, 66(8), 2316-2322. Abstract.  Author URL.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, et al (2017). The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes is Independent of the HLA DR-DQ Genotype. Genes (Basel), 8(5). Abstract.  Author URL.
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A, et al (2016). An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). Am J Med Genet A, 170(7), 1918-1923. Abstract.  Author URL.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.
Antosik K, Gnys P, De Franco E, Borowiec M, Mysliwiec M, Ellard S, Mlynarski W (2016). Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol, 53(2), 337-338.  Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Abstract.
Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, et al (2015). Expanding the Clinical Spectrum Associated with GLIS3 Mutations. J Clin Endocrinol Metab, 100(10), E1362-E1369. Abstract.  Author URL.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America Abstract.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America, 62(4), 1037-1053. Abstract.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract.  Author URL.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, et al (2014). Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. Cell Metab, 19(1), 146-154. Abstract.  Author URL.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.
Ellard S, De Franco E (2014). Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies. Frontiers in Diabetes, 23, 71-86. Abstract.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Allen HL, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.

Chapters

De Franco E, Johnson MB (2023). Classification of Neonatal Diabetes. In  (Ed) Neonatal and Early Onset Diabetes Mellitus, Springer Nature, 39-61.
Senarathne UD, De Franco E, Abdelmeguid Y, Lu ZX, Brown J (2023). Permanent Neonatal Diabetes Mellitus. In  (Ed) Genetic Syndromes, Springer Nature, 1-7.

Conferences

Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT (2021). 493 Using human monogenic disease to quantify the contribution of fetal insulin to birth weight.
Nagesh. S, Hattersley A, Ellard S, Flanagan S, De Franco E, Sethi B, Naseem A, Khan A, Tanveer S (2016). Abstract #269: Genetic Analysis and Clinico-Genetic Correlation of Neonatal Diabetes in a Cohort of 12 Children from South India.

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External Engagement and Impact

Awards and Honours

  • 2023: Helmholtz Young Investigator (HeiDi) in Diabetes Award 
  • 2022: Genes 2022 Young Investigator Award in Human Genomics and Genetic Diseases
  • 2021: Society for Endocrinology Science Early Career Prize Lecture
  • 2021: Candidate for Helmholtz Young Investigator Award
  • 2020: ISPAD Young Investigator Award
  • 2018: EASD Rising Star Award
  • 2018: Shortlisted for the ESHG Young Investigator Poster Award
  • 2017: Finalist of the AMS clinical prize for best poster
  • 2016: The BMJ Awards- Diabetes Team of the Year
  • 2015: EASD-Study Group for the Genetics of Diabetes Young Investigator Award
  • 2014: Shortlisted for the ESHG Young Investigator Award
  • 2013: EASD-Study Group for the Genetics of Diabetes Young Investigator Award
  • 2011: EASD-Study Group for the Genetics of Diabetes Travel award

Editorial responsibilities

REVIEWER FOR

  • Nature Communications
  • Diabetes Care
  • Diabetologia
  • Genetics in Medicine
  • Human Mutation
  • Journal of Endocrinology
  • Diabetic Medicine
  • Pediatric Diabetes
  • Hormone Research In Pediatrics
  • Molecular Genetics and genomics Medicine
  • BMC Pediatrics

MEMBER OF EDITORIAL BOARD FOR

  • Pediatric Diabetes

External Examiner Positions

2021: DPhil, University of Oxford


Competitively funded studentships and postdoctoral fellowships

2020: Diabetes UK PhD studentship


Competitively won research fellowships

2023: EFSD/Novo Nordisk Future Leader programme

2019: Diabetes UK RD Lawrence fellowship


Invited lectures & workshops

  • 2023: 10th Helmholtz Diabetes Conference (Germany)

  • 2023: Metabolic Disorders In Childhood Obesity: Mechanisms, Phenotypes And Disease Spectrum (Italy)

  • 2023: ADA Conference
  • 2022: Diabetes UK Professional Conference 
  • 2021: IV Workshop SEJI Jóvenes Investigadores de Excelencia: what is going on in diabetes research? (develivered online)
  • 2021: Society for Endocrinology Early Career Basic Science Lecture (delivered online)
  • 2021: Golden State Islet Biology Seminar Series (GSIS) (delivered online)
  • 2021: 14th International Conference on Advanced Technologies & Treatments for Diabetes (delivered online)
  • 2021: 8th Helmholtz Diabetes Conference (delivered online)
  • 2020: Diabetes UK PhD students Networking Day (delivered online)
  • 2020: Diabetes UK South West volunteers conference (delivered online)
  • 2020: ULB Center for Diabetes Research seminar (delivered online)
  • 2019: 3rd Joint EASD Islet Study Group and Beta-Cell Workshop (UK)
  • 2018: Ireland Pediatric Diabetes conference (Ireland)
  • 2018: Novo Nordisk Pediatric Diabetes Workshop (Sweden)
  • 2016: Asia Pacific Paediatric Endocrine Society conference (Japan)
  • 2016: Irish Molecular Diagnostics Meeting (Ireland)
  • 2016: Next Generation sequencing course provided by the European Society of Human Genetics (Italy)
  • 2015: Birmingham Women’s Hospital Seminar Series (UK)
  • 2015: Scottish Study Group of Paediatric Diabetes (UK)
  • 2015: Next Generation sequencing course provided by the European Society of Human Genetics (Italy)
  • 2015: International Society for Pediatric and Adolescent Diabetes course (Bulgaria)
  • 2014: Postgraduate School of Human Genetics (Italy) 

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Teaching

University of Exeter Medical School - BSc Medical Sciences Final Year Project Supervisor

University of Exeter Medical School - SSU Provider (Genetics forms of diabetes) 

University of Exeter Medical School - MSc Genomic Medicine Project Supervisor

University of Exeter Medical School - Lectures for Omics module, MSc Genomic Medicine

University of Exeter Medical School - Lectures for Common & Rare disease module, MSc Genomic Medicine

University of Exeter Medical School - Genetic Diabetes Nurses

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Supervision / Group

Postdoctoral researchers

  • Dr Nicola Jeffery

Postgraduate researchers

  • Suhel Ahmed
  • Russell Frew PhD candidate (Main supervisor)
  • Kathryn Hinton PhD candidate (Co-supervisor)
  • Ailsa MacCalman PhD candidate (Co-supervisor)
  • James Russ-Silsby PhD candidate (Main supervisor)

Research Technicians

  • Molly Evans

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