Dr. Soo-Hyun Kim is a distinguished researcher in human development and reproductive biology, with a particular focus on the fundamental molecular mechanisms driving these processes. Her work addresses critical public health challenges, such as disorders of sexual development, which affect approximately 3% of the population, and infertility, impacting 15% of couples worldwide.
Her research team has made pivotal advancements in decoding key receptor signaling pathways that regulate the neuroendocrine system, with a primary focus on Congenital Hypogonadotropic Hypogonadism (CHH) and Kallmann Syndrome (KS) - rare, genetically and clinically diverse conditions that require lifelong management.
Dr. Kim is an active member of the European GnRH Network and the UK Cilia Network. Her contributions are widely recognised through her high-impact, frequently cited publications. Additionally, she has participated in global patient education initiatives, developing multilingual resources as part of the EU-funded COST Biomedicine and Molecular Biosciences program.
Dr Kim joined St George’s, University of London in 2009, as a group leader.
Prior to this, she was a Senior Research Fellow at UCL Medical School, University College London where she worked with Professor Bouloux at the Centre for Neuroendocrinology.
During her postdoctoral research at Cancer Research UK London Research Institute at Lincoln’s Inn Fields (previously Imperial Cancer Research Fund), she worked with Dr Hartmut Land and then with Dr Gordon Peters to investigate oncogenic signal pathways and cell cycle regulation, in particular, the mechanisms by which the tumour suppressor ARF and p53 operate, and how the cell cycle inhibitor p16 contributes to cellular ageing and cancer such as melanoma.
Dr Kim received her PhD from Rutgers University, New Jersey Medical School (currently Rutgers Biomedical and Health Sciences), under the supervision of Professor Harvey Ozer who discovered the DNA tumour virus SV40 T antigen that can transform normal cells into immortal cancer cells.
Dr Kim has been a reviewer for prestigious grant-awarding bodies and scientific journals. She has been invited to join the European Cooperation in Science and Technology (COST) GnRH Network, an international consortium of physicians/researchers from 28 countries (profile page), and the UK Cilia Network, a national network of researchers working on cilia (my profile page).
Dr Kim has been involved with several learned societies, including the British Society for Cell Biology, Anatomical Society, British Society for Neuroendocrinology, Society for Endocrinology, Genetics Society, Biochemical Society, and Endocrine Society (USA). She also participates in public engagement activities, working with several patient groups.
In 2020, She was invited by the publisher of EMBO Press Journals, Wiley, to represent the Women in Science week media promotion event. She was one of 23 female corresponding authors invited from the EMBO Journal, EMBO Molecular Medicine, EMBO Reports and Molecular Systems Biology. EMBO Women In Science 2020
Dr. Soo-Hyun Kim has long-standing research on the mechanisms of development, aging, and cancer. Her current studies are focused on the understanding of rare genetic disorders that affect puberty and fertility. Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare and complex disorders mainly characterised by sex hormone deficiency resulting from developmental defects of the neuroendocrine system. These conditions require lifelong treatment and management, making them a valuable model for studying the key molecular events during development.
Her recent research explores the link between CHH/KS and primary cilia, essential cellular structures involved in receptor signaling during development. Disruptions in ciliary function lead to ciliopathies, and her research is uncovering the role of cilia in CHH/KS, potentially reframing these conditions within the human ciliopathy spectrum. This shift could offer new diagnostic frameworks and explain why some patients are resistant to therapies targeting hypothalamic dysfunction alone.
Dr. Kim’s lab employs cutting-edge techniques, including live imaging and advanced confocal microscopy, alongside extensive expertise in genetic analysis using whole exome sequencing. Her team has identified numerous novel mutations in congenital disorders, contributing to the broader understanding of genetic underpinnings in development.
Current Research Projects
- Gene Discovery in CHH/KS
Through collaborations with clinical researchers, Dr. Kim’s group continues to uncover novel genes associated with CHH and KS. Using a multidisciplinary approach - integrating clinical genetics, bioinformatics, animal models, and in vitro molecular studies - they functionally validate the biological impact of these genes and mutations. To date, her group has identified and characterised multiple candidate genes, helping to establish critical genotype-phenotype correlations.
- WDR11 in Ciliopathy and the Hedgehog Pathway
Rare mutations in the WDR11 gene are linked to CHH/KS, but their biological role remains under investigation. Dr. Kim’s research has demonstrated WDR11’s crucial involvement in primary cilia function, particularly in endocytic vesicle trafficking to the ciliary base. Using advanced microscopy and innovative live imaging techniques, her team has uncovered a vital role for WDR11 in primordial germ cell migration, providing new therapeutic avenues to address both reproductive and non-reproductive symptoms.
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- Hedgehog signalling inside and outside of primary cilia:
Dr. Kim investigates the intricacies of the Hedgehog (Hh) signalling pathway - both within and beyond primary cilia. As a key player in development and cancer, cili-dependent Hh signalling is crucial for regulating cell fate. Dr. Kim’s studies use mouse models of primordial germ cell migration to explore how cell surface co-receptors modulate downstream Hh signalling. The outcomes of this research have significant implications for understanding developmental biology and could lead to novel therapeutic strategies in regenerative medicine and cancer treatment.
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Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome
Molecular and Cellular Endocrinology 2024-08 | Journal article PMID: 38593951 DOI: 10.1016/j.mce.2024.112224
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Scientific Reports 2023-08-10 | journal-article PMID: 37563198 DOI: 10.1038/s41598-023-40037-4
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development
Scientific Reports 2023-07-29 | journal-article PMID: 37516749 DOI: 10.1038/s41598-023-38017-9
Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counselling
Molecular and Cellular Endocrinology 2021-05-30 | journal-article PMID: 34062169 DOI: 10.1016/j.mce.2021.111334
WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System
Endocrinology and Metabolism 2020-09-08 | journal-article PMID: 32894826 DOI: 10.3803/enm.2020.302
Loss of Kallmann syndrome-associated gene WDR11 disrupts primordial germ cell development by affecting canonical and non-canonical Hedgehog signalling
2020-09-06 | preprint DOI: 10.1101/2020.09.06.284927
Author Correction: Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration
Nature Communications 2020-05-05 | journal-article DOI: 10.1038/s41467-020-16304-7
Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration
Nature Communications 2020-04-24 | journal-article PMID: 32332736 DOI: 10.1038/s41467-020-15897-3
Kallmann syndrome-associated WDR11 regulates primordial germ cell development
Endocrine Abstracts 2019-11-06 | conference-paper DOI: 10.1530/endoabs.65.oc6.4
Decoding the role of follicle stimulating hormone glycosylation in ovarian ageing
Fertility 2018 2018-01-02 | conference-paper DOI: 10.1080/14647273.2018.1431510
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
EMBO Reports 2018 | journal-article PMID: 29263200 DOI: 10.15252/embr.201744632
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
BioRkiv 2017-10-10 | preprint DOI: 10.1101/200154
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism
Orphanet Journal of Rare Diseases 2017 | journal-article DOI: 10.1186/s13023-017-0608-2
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
Journal of Clinical Endocrinology and Metabolism 2017 | journal-article DOI: 10.1210/jc.2017-00332
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Molecular and Cellular Endocrinology 2016 | journal-article DOI: 10.1016/j.mce.2016.08.007
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future
Endocrinology and Metabolism 2015 | journal-article DOI: 10.3803/EnM.2015.30.4.456
Anosmin-1 contributes to brain tumor malignancy through integrin signal pathways
Endocrine Related Cancer 2013 | journal-article DOI: 10.1530/ERC-13-0181
Genetic Analysis of NR0B1in Congenital Adrenal Hypoplasia Patients: Identification of a Rare Regulatory Variant Resulting in Congenital Adrenal Hypoplasia and Hypogonadal Hypogonadism without Testicular Carcinoma in situ
Sexual Development 2012-09-27 | journal-article DOI: 10.1159/000342295
Cug2 is essential for normal mitotic control and CNS development in zebrafish
BMC Developmental Biology 2011 | journal-article DOI: 10.1186/1471-213X-11-49
Extracellular matrix and cell signalling: the dynamic cooperation of integrin, proteoglycan and growth factor receptor
Journal of Endocrinology 2011 | journal-article DOI: 10.1530/JOE-10-0377
Kisspeptin-evoked calcium signals in isolated primary rat gonadotropin- releasing hormone neurones
Neuroendocrinology 2011 | journal-article DOI: 10.1159/000321678
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Fertility and Sterility 2011 | journal-article DOI: 10.1016/j.fertnstert.2011.01.010
Biological actions and interactions of anosmin-1
Frontiers of Hormone Research 2010 | journal-article DOI: 10.1159/000312695
Essential Role of 2-O and N-Sulfation of Heparin on FGFR1 Regulation by Anosmin-1 in GnRH Neuron Migration
Endocrine Reviews 2010 | conference-paper DOI: 10.1210/endo-meetings.2010.PART2.P3.P2-133
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
American Journal of Human Genetics 2010 | journal-article DOI: 10.1016/j.ajhg.2010.08.018
Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1
Journal of Biological Chemistry 2009 | journal-article DOI: 10.1074/jbc.M109.049155
Binding to nucleophosmin determines the localization of human and chicken ARF but not its impact on p53
Oncogene 2008 | journal-article DOI: 10.1038/sj.onc.1210887
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome
Journal of Neuroendocrinology 2008 | journal-article DOI: 10.1111/j.1365-2826.2007.01627.x
Insights into the Molecular Basis of Kallman Syndrome
Encyclopedia of Life Sciences 2007-09-28 | journal-article DOI: 10.1002/9780470015902.a0006100
Part of ISBN: 0470016175 ISBN: 9780470016176 Part of ISBN: 047001590X Part of ISBN: 9780470015902
Molecular pathogenesis of Kallmann's syndrome
Hormone Research 2007 | journal-article DOI: 10.1159/000098156
Upregulation of chicken p15INK4b at senescence and in the developing brain
Journal of Cell Science 2006 | journal-article DOI: 10.1242/jcs.02989
Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism
Journal of Neuroscience 2004 | journal-article DOI: 10.1523/JNEUROSCI.3400-04.2004
Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator
Biochemical Journal 2004 | journal-article DOI: 10.1042/BJ20041078
Absence of p16INK4a and truncation of ARF tumor suppressors in chickens
Proceedings of the National Academy of Sciences U S A 2003 | journal-article DOI: 10.1073/pnas.0135557100
Cyclins D1 and D2 mediate myc-induced proliferation via sequestration of p27(Kip1) and p21(Cip1)
EMBO Journal 1999 | journal-article DOI: 10.1093/emboj/18.19.5310
SV40-mediated transformation and immortalization of human cells
Developments in Biological Standardization 1998 | journal-article PMID: 9776250
SEN6, a locus for SV40-mediated immortalization of human cells, maps to 6q26-27
Oncogene 1997 | journal-article DOI: 10.1038/sj.onc.1200842
SV40-mediated immortalization of human fibroblasts
Experimental Gerontology 1996 | journal-article PMID: 8706800 DOI: 10.1016/0531-5565(95)00024-0
Nov, 2019 - Oct, 2021: Global Educational Trust Fund. "Interdisciplinary collaboration for improved diagnosis and management of congenital disorders of neuroendocrine and reproductive disorders".
Jul, 2014 - Feb, 2018: Medical Research Council (MRC) Project Grant. "Dual functions of WDR11 in the pathogenesis of hypogonadotrophic hypogonadism."
Oct, 2012 – Mar, 2013: Wellcome Trust Institutional Strategic Support Fund, St George's, University of London Researcher Development Support Scheme. "The molecular mechanisms underlying Kallmann syndrome and normosmic hypogonadotrophic hypogonadism."
Jul, 2011- Jun, 2014: Enterprise Award, St George's, University of London, “Validation of diagnostic markers for brain tumours.”
Jul, 2010 – Jun, 2013: AIL-MAURI Academic Fund PhD Studentship Grant “Anosmin-1-mediated signalling events in neuronal differentiation and migration of human gonadotropin-releasing hormone neuroblasts.”
Jan, 2010 – Jun, 2010: Wellcome Trust Value In People Award - SGUL Human Resources Bridging Funding Scheme “Anosmin-1-mediated crosstalk between FGFR1 and TGF-beta signalling pathways.”
Jan, 2008 – Dec, 2010: Biotechnology & Biological Sciences Research Council Project Grant BB/F007167/1 “Extracellular modulation of multi-protein signalling complexes: molecular regulation of FGFR signalling by anosmin-1 & heparan sulphate proteoglycans”
Research Group
Yeon Joo Kim (Postdoctoral Research Fellow)
Bushra Mussa (Research Assistant)
PhD student: Katrina Brooks (third supervisor)
Alumni
PhD students:
Ji Young Lee (primary supervisor)
Catherine Choy (primary supervisor)
Jaskaren Kohli (secondary supervisor)
Lorna FitzPatrick (secondary supervisor)
MRes/MSc students:
Ntana Papadopoulou
Bushra Mussa
Vincent Umelue
Roina Nizami
Mosammat Raka Polyma
Sainab Melia Daghmoumi
Namakau Nakazwe
Sainab Melia Daghmoumi
Olivia Willets
Leah Esau
Janani Balasubramania Sarma
Jnina Eddous
Ester Paolocci
Elena Lin
Adam Mayar
Zahra Jamshidi Parvar
Adyam Naizghi
Shayalini Wignarajah
Rivkah Grant
Irene García Benítez
Collaborations:
Professor Lawrence Layman (Medical College of Georgia, Augusta University)
Dr Hyung Goo Kim (Qatar Biomedical Research Institute, Hamad Bin Khalifa University)
Professor Davide Calebiro (University of Birmingham)
Professor Eunjig Lee (Yonsei University)
Professor Timothy Mohun (Francis Crick Institute)
Dr Taneli Raivio (Helsinki University Central Hospital)
Dr Masatake Araki (Kumamoto University)
Beyond her research, Dr. Kim is passionate about education, where she leads the development and delivery of BSc, MSc, and MRes courses, inspiring and mentoring the next generation of scientists.
She obtained the Postgraduate Certificate in Healthcare and Biomedical Education (PGCert HBE) in 2012 and currently holds a Fellowship of Higher Education Academy.
She gives specialist lectures, tutorials and expert sessions and has been the module organiser for various courses in Biomedical Sciences and intercalated BSc programs.
She supervises Research Projects for BSc, MRes, and MSc students.
Dr Kim is the Course Director for MRes Biomedical Sciences, and has previously served as the lead for Reproduction and Development Pathway and the Deputy Course Director.
She is a member of the Taught Postgraduate Course Committee and the Programmes Forum.