Professor Nadia Schoenmakers

Institute of Metabolism and Systems Research
Professor of Endocrinology
125th Anniversary Chair

Contact details

Email: n.schoenmakers@bham.ac.uk

Address: University of Birmingham
Edgbaston
Birmingham
B15 2TT
UK

Nadia Schoenmakers is a clinician-scientist who investigates the causes and consequences of a broad range of thyroid disorders. Her research particularly focuses on rare diseases such as congenital hypothyroidism (CH), for which she aims to delineate the genetic basis, and to determine the associated phenotypes. In the laboratory, she seeks to understand the role of known and novel genes in thyroid development and hormone synthesis and the consequences of specific gene dysfunction. More recent work has also focussed on evaluating potential environmental contributors to CH, and characterizing the micronutrient profile of healthy women and neonates in the early postnatal period. She also maintains a basic and clinical research interest in disorders of thyroid hormone action. Nadia ultimately aims to translate her findings to improve patient diagnosis and outcomes.

Qualifications

CCT (Endocrinology, Diabetes and General Internal Medicine) 2012
PhD in Molecular Endocrinology, University of Cambridge, 2012
MRCP (UK), Royal College of Physicians, 2003
MB BChir, University of Cambridge 2001
BA (Hons) in Pathology, University of Cambridge 1998

Biography

Nadia completed her medical degree at the University of Cambridge, 2001 and subsequently trained in Endocrinology at Addenbrooke’s Hospital, Cambridge. She first developed an interest in congenital thyroid disorders during her PhD (supervised by Professor Krishna Chatterjee) in which she investigated clinical and molecular aspects of resistance to Thyroid Hormone due to defective thyroid hormone receptor subtypes.

Since 2013 she has led an independent research programme evaluating the basis of primary and central congenital hypothyroidism (CH). Her work was initially funded by a Wellcome Intermediate Clinical Fellowship and more recently by the British Thyroid Foundation and a Wellcome Senior Research Fellowship which she has held since 2020. Prior to moving to UoB, Nadia was based at the Institute of Metabolic Science (IMS), University of Cambridge. In parallel, she held an honorary consultant contract at Addenbrooke’s Hospital, Cambridge and maintained her interest in disorders of thyroid hormone action by contributing to the Cambridge National service for unusual thyroid disorders.

Nadia moved to UoB in August 2024 and aims to continue and expand her programme in collaboration with the Birmingham Thyroid group. She maintains strong links with Great Ormond Street Hospital, London, members of the BSPED Thyroid Special Interest Group, the IMS and the Wellcome Sanger institute.

Research

Investigating the genetic causes of primary congenital hypothyroidism (CH) and central congenital hypothyroidism (CeCH)
Delineating the role of environmental contributors (micronutrient status, endocrine disruptors) to congenital hypothyroidism and assessing levels in healthy mothers and babies in the early postpartum period
Delineating the clinical presentations and phenotypes associated with CH and CeCH
Determining the roles of known and novel genes in thyroid development and hormone synthesis and the effects of specific gene dysfunction, using laboratory studies and animal models
Evaluating the single cell transcriptome of thyroid in heath and disease (collaboration, Dr Roser Vento-Tormo/ Dr Sam Behjati, Wellcome Sanger Institute)
Determining the genetic basis, associated phenotypes and optimal management of disorders of thyroid hormone action (in collaboration with Professor Krishna Chatterjee, Institute of Metabolic Science, Cambridge and Dr Carla Moran, University College Dublin).

Other activities

Secretary, British Thyroid Association (2024-)
Programme Organizing Committee, European Society of Endocrinology (2024-)
American Thyroid Association Clinical Affairs Committee (2021-2024)
European Society of Endocrinology Focus Area on Thyroid panel member (2021-2024)
European Thyroid Association Executive Committee (2019-2023)
Society for Endocrinology Basic Science Committee (2018-2021)

Nadia holds honorary clinical consultant contracts at UHB and continues to participate in a national diagnostic service for discordant thyroid function and unusual thyroid disorders, led from Cambridge.

Publications

Massalha H†, Trinh MK†, Armingol E, Tuck L, Predeus A, Mazin P, Sancho-Serra C, Oszlanczi A, Wood Y, Parks C, Ogbonnah T, Whitfield HJ, Kelava I, Behjati S,* Vento-Tormo R*, Schoenmakers N* (2024) A developmental atlas of the human thyroid gland Biorxv doi: https://doi.org/10.1101/2024.08.22.609152

Durgia H, Nicholas AK, Schoenmakers E, Dickens JA, Halanaik D, Sahoo J, Kamalanathan S*, Schoenmakers N*. (2022). Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism. Thyroid;32(2):215-218

Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N. (2020) IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. J Clin Endocrinol Metab. 105(3):e70-84.

Peters C, Nicholas AK, Schoenmakers E, Lyons G, Langham S, Serra EG, Sebire NJ, Muzza M, Fugazzola L, Schoenmakers N. (2019) DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. Thyroid;29(6):790-801.

Cangul H†, Liao XH†, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium; Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S*, Schoenmakers N* (2018). Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight ;3(20):e99631.

Nicholas AK†, Serra EG†, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. (2016) Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. J Clin Endocrinol Metab;101(12):4521-4531.

Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W IGSF1 Clinical Care Group. (2016); IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management. J Clin Endocrinol Metab;101(4):1627-36.

Sun Y†, Bak B†, Schoenmakers N†, van Trotsenburg AS†, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K*, Dattani MT*, Wit JM*, Bernard DJ*. (2012). Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 44(12):1375-81.

Bochukova E†, Schoenmakers N†, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.(2012). A mutation in the thyroid hormone receptor alpha gene. N Engl J Med.;366(3):243-9.

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