Dr Southgate joined St George's in 2017 as a Wellcome Trust ISSF Lecturer and is currently a Senior Lecturer and Deputy Head of the Genetics Research Section. She is also a Visiting Research Fellow in the Department of Medical & Molecular Genetics, King's College London.

Previously, she held post-doctoral positions at Queen Mary University of London (2014-2017), where she worked with Prof. David van Heel on the East London Genes & Health population genomics initiative, and King’s College London (2009-2014), investigating the molecular genetic basis of pulmonary arterial hypertension alongside Prof. Richard Trembath.

Laura began her research career at the University of Leicester, having completed a BSc (Hons) in Biological Sciences (Genetics). She was awarded her PhD in Medical & Molecular Genetics in 2009, following her move to King's College London. Her PhD thesis was focused around autozygosity mapping and the functional characterisation of disease genes underlying developmental disorders in families with close parental relatedness.

External positions:

Dr Southgate is a serving member of the Pulmonary Hypertension Gene and Variant Curation Expert Panels (PH GCEP/VCEP), part of the NIH ClinGen Cardiovascular Clinical Domain Working Group. She presently sits on the Editorial Boards of Annals of Human Genetics and Future Rare Diseases.

She has conducted independent consultancy work for Pharmatherapeutics Precision Medicine (Pfizer Inc) and acted as an expert witness in genetics. She has previously been interviewed about her expertise in Adams-Oliver syndrome for the “Body Bizarre” documentary series (Discovery Channel UK).

Dr Southgate’s research focuses on understanding the molecular mechanisms underlying rare human genetic disorders with critical impact on human health.

Rare disease is a window into fundamental biology

The combined worldwide impact indicates that 300 million people are currently living with a rare disease. Around 72% have a genetic cause, which can have further implications regarding treatment options and family planning. Identifying the key genes causing rare diseases provides a unique insight into biological systems that are critical for human physiology and development. Subsequent investigation into how a defective gene affects the normal cellular function offers opportunities for the development of new diagnostics and targeted therapies. Together, this research approach establishes an analytical pipeline from gene discovery to molecular mechanism, with a view to finding solutions for enhanced patient care.

Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a progressive vascular disorder of dysregulated cell growth, which is often fatal. Mutation of the BMPR2 gene represents the main genetic driver but there are now more than 20 genes that have been described to cause PAH. 

Through an analysis of common and rare variants in idiopathic PAH, using genome-wide association and whole-genome sequencing studies, Dr Southgate and colleagues have identified numerous novel genetic risk factors, including ATP13A3 and SOX17 (Gräf et al. 2018; Rhodes et al. 2019). She is currently using a range of molecular biology techniques to investigate the role of these cellular pathways in maintenance of the pulmonary vasculature and PAH pathogenesis.

Dr Southgate has a long-standing association with Prof. Richard Trembath (King’s College London) and is a member of the International Consortium for Genetic Studies in PAH (PAH-ICON), founded by Prof. Nick Morrell (University of Cambridge). She works closely with Dr Rajiv Machado on research projects to evaluate the respective roles of ATP13A3, JAB1 and NOTCH1 in the development of human cardiovascular disorders, and to analyse the genetic architecture of PAH in diverse populations and childhood-onset disease.

Adams-Oliver syndrome

Adams-Oliver syndrome (AOS) is a heterogeneous disorder characterised by birth defects of the scalp, limbs and heart, which represent a significant cause of infant death or disability. To date, Dr Southgate has published several causal genes, implicating two major biological pathways with potential for therapeutic intervention.

As a leading member of the European AOS Consortium, in collaboration with Prof. Wim Wuyts (University of Antwerp, Belgium) and Prof. Martin Zenker (University Hospital Magdeburg, Germany), she is engaged in whole-exome sequencing to drive the identification of novel candidate genes and provide further insight into the fundamental processes disrupted in disease. Having determined that 70% of patients remain genetically unsolved (Meester et al. 2018), she is developing novel approaches to best investigate missing heritability and variants of uncertain significance in AOS.

The work of this Consortium has established a paradigm of dysregulated Rho GTPase and Notch signalling in AOS pathobiology. To further examine the potential vasculogenic origin of disease, Dr Southgate's research group is working with colleagues in the Genetics and Cell Biology research sections to comprehensively interrogate vascular development in cellular and zebrafish models of Rho and Notch dysfunction.

Cluster headache

Cluster headache is a debilitating neurological condition of recurrent and severe head pain, often displaying marked periodicity. Headache attacks can occur up to eight times a day and are typically one sided, with associated autonomic symptoms. Using familial genetic analysis, Dr Southgate has previously determined that cluster headache has marked locus heterogeneity, likely due to the existence of multiple causal genes.

Her current research is examining the genetic architecture of cluster headache through genome-wide association studies (GWAS) and whole-exome sequencing in families. She is an active member of the International Consortium for Cluster Headache Genetics, an international effort to detect genetic risk factors for cluster headache. Together, they recently published the results of the first GWAS meta-analysis in cluster headache (Winsvold et al. 2023).

Understanding the unique needs of people with these life-changing conditions has provided Laura with a substantial focus to define the genetic cause of their rare disease – no matter how rare

For a full list of publications, pre-prints and abstracts, see Laura's Google Scholar profile.

To download open access versions for free, please visit St George's Online Research Archive.

2024:

Liley J, Newnham M, Bleda M, Bunclark K, Auger W, Barbera JA, Bogaard H, Delcroix M, et al. Shared and distinct genomics of chronic thromboembolic pulmonary hypertension and pulmonary embolism. Am J Respir Crit Care Med. 2024. 209(12):1477-1485. doi: 10.1164/rccm.202307-1236OC 

Tai YY, Yu Q, Tang Y, Sun W, Kelly NJ, Okawa S, Zhao J, Schwantes-An TH, et al. Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension. Sci Transl Med. 2024. 16(729):eadd2029. doi: 10.1126/scitranslmed.add2029

2023:

Winsvold BS, Harder AVE, Ran C, Chalmer MA, Dalmasso MC, Ferkingstad E, Tripathi KP, Bacchelli E, et al; International Consortium for Cluster Headache Genetics. Cluster headache genomewide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor. Ann Neurol. 2023. 94(4):713-726. doi: 10.1002/ana.26743

Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, et al; ClinGen PH VCEP. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genet Med. 2023. 25(11):100925. doi: 10.1016/j.gim.2023.100925

Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, et al; for PAH-ICON associated with the PVRI. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. Eur Respir J. 2023. 61(2):2201471. doi: 10.1183/13993003.01471-2022

2022:

Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, et al. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. J Med Genet. 2022. 59(9):906-911. doi: 10.1136/jmedgenet-2021-107831

Taha F, Southgate L. Molecular genetics of pulmonary hypertension in children. Curr Opin Genet Dev. 2022. 75:101936. doi: 10.1016/j.gde.2022.101936

Harbaum L, Rhodes CJ, Wharton J, Lawrie A, Karnes JH, Desai AA, Nichols WC, Humbert M, et al; U.K. National Institute for Health Research BioResource Rare Diseases Consortium, U.K. Pulmonary Arterial Hypertension Cohort Study Consortium, and U.S. Pulmonary Arterial Hypertension Biobank Consortium. Mining the plasma proteome for insights into the molecular pathology of pulmonary arterial hypertension. Am J Respir Crit Care Med. 2022. 205(12):1449-1460. doi: 10.1164/rccm.202109-2106OC

2021:

Rossi F, Crnjar A, Comitani F, Feliciano R, Jahn L, Malim G, Southgate L, Kay E, et al. Extraction and high-throughput sequencing of oak heartwood DNA: Assessing the feasibility of genome-wide DNA methylation profiling. PLoS One. 2021. 16(11):e0254971. doi: 10.1371/journal.pone.0254971

Machado RD, Southgate L. Pulmonary arterial hypertension: a deeper evaluation of genetic risk in the -omics era. Genes (Basel). 2021. 12(11):1798. doi: 10.3390/genes12111798

O'Connor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, Harder AVE, Vijfhuizen LS, et al. Genome wide association study identifies risk loci for cluster headache. Ann Neurol. 2021. 90(2):193-202. doi: 10.1002/ana.26150

Benson CE, Southgate L. The DOCK protein family in vascular development and disease. Angiogenesis. 2021. 24(3):417-433. doi: 10.1007/s10456-021-09768-8

Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, et al; NIHR BioResource for Translational Research – Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH, Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med. 2021. 13(1):80. doi: 10.1186/s13073-021-00891-1

Swietlik EM, Greene D, Zhu N, Megy K, Cogliano M, Rajaram S, Pandya D, Tilly T, et al. Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension. Circ Genom Precis Med. 2021. 14(1):e003155. doi: 10.1186/s13073-021-00891-1

2020:

Gelinas SM, Benson CE, Khan MA, Berger RMF, Trembath RC, Machado RD*, Southgate L*. Whole exome sequence analysis provides novel insights into the genetic framework of childhood-onset pulmonary arterial hypertension. Genes. 2020. 11(11):1328. doi: 10.3390/genes11111328

Rhodes CJ, Otero-Núñez P, Wharton J, Swietlik EM, Kariotis S, Harbaum L, Dunning MJ, Elinoff JM, et al. Whole blood RNA profiles associated with pulmonary arterial hypertension and clinical outcome. Am J Respir Crit Care Med. 2020. 202(4):586-594. doi: 10.1164/rccm.202003-0510OC

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, et al; NIHR BioResource for the 100,000 Genomes Project, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Whole-genome sequencing of patients with rare diseases in a national health system. Nature. 2020. 583(7814):96-102. doi: 10.1038/s41586-020-2434-2

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, et al; Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020. 583(7814):90-95. doi: 10.1038/s41586-020-2265-1

Cuvertino S, Hartill V, Coyler A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, et al. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med. 2020. 22(5):867-877. doi: 10.1038/s41436-019-0743-3

Ulrich A, Wharton J, Thayer TE, Swietlik EM, Assad TR, Desai AA, Gräf S, Harbaum L, et al. Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension. Eur Respir J. 2020. 55(2):1901486. doi: 10.1183/13993003.01486-2019

Hodgson J, Swietlik EM, Salmon RM, Hadinnapola C, Nikolic I, Wharton J, Guo J, Liley J, et al. Characterisation of GDF2 mutations and levels of BMP9 and BMP10 in pulmonary arterial hypertension. Am J Respir Crit Care Med. 2020. 201(5):575-585. doi: 10.1164/rccm.201906-1141OC

Southgate L, Machado RD, Gräf S, Morrell NW. Molecular genetic framework underlying pulmonary arterial hypertension. Nat Rev Cardiol. 2020. 17(2):85-95. doi: 10.1038/s41569-019-0242-x

2019:

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, et al; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. Am J Hum Genet. 2019. 104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005

Rhodes CJ*, Batai K*, Bleda M*, Haimel M*, Southgate L*, Germain M*, Pauciulo MW*, Hadinnapola C, et al; UK NIHR BioResource Rare Diseases Consortium; UK PAH Cohort Study Consortium; US PAH Biobank Consortium. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Lancet Respir Med. 2019. 7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0

Southgate L. Current opinion in the molecular genetics of Adams-Oliver syndrome. Expert Opin Orphan Drugs. 2019. 7(1):21-26. doi: 10.1080/21678707.2019.1559049

2018:

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, et al. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Hum Mutat. 2018. 39(9):1246-1261. doi: 10.1002/humu.23567

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, et al; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL. De novo truncating mutations in WASF1 cause intellectual disability with seizures. Am J Hum Genet. 2018. 103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001

Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, et al; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. Am J Hum Genet. 2018. 103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013

Gräf S*, Haimel M*, Bleda M*, Hadinnapola C*, Southgate L*, Li W, Hodgson J, Liu B, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun. 2018. 9(1):1416. doi: 10.1038/s41467-018-03672-4

Farmery JHR, Smith ML; NIHR BioResource - Rare Diseases, Lynch AG. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Sci Rep. 2018. 8(1):1300. doi: 10.1038/s41598-017-14403-y

2017:

Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift AJ, Dorfmüller P, Preston SD, Southwood M, et al. Phenotypic characterisation of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension. Circulation. 2017. 136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR BioResource - Rare Diseases Consortium, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration. Am J Hum Genet. 2017. 100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, et al; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL. Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. Am J Hum Genet. 2017. 100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003

2016:

Southgate L. Letter regarding “Distal limb defects and aplasia cutis: Adams-Oliver syndrome”. J Hand Surg Am. 2016. 41(9):e327. doi: 10.1016/j.jhsa.2016.06.001

Southgate L, Trembath RC (July 2016). Chapter 186: ARHGAP31, DOCK6, RBPJ, EOGT, and Adams-Oliver Syndrome. In: CJ Epstein, RP Erickson, A Wynshaw-Boris (eds.) Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. 3rd edition. Oxford University Press, New York. pp.1203-1209. doi: 10.1093/med/9780199934522.003.0183

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016. 352(6284):474-477. doi: 10.1126/science.aac8624

2015:

Dand N, Schulz R, Weale ME, Southgate L, Oakey RJ, Simpson MA, Schlitt T. Network-informed gene ranking tackles genetic heterogeneity in exome-sequencing studies of monogenic disease. Hum Mutat. 2015. 36(12):1135-1144. doi: 10.1002/humu.22906

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, et al. Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Hum Mutat. 2015. 36(12):1113-1127. doi: 10.1002/humu.22904

Meester JAN, Southgate L, Stittrich AB, Venselaar H, Beekmans SJA, den Hollander N, Bijlsma EK, Helderman-van den Enden A, et al. Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome. Am J Hum Genet. 2015. 97(3):475-482. doi: 10.1016/j.ajhg.2015.07.015

Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, et al. Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies. Circ Cardiovasc Genet. 2015. 8(4):572-581. doi: 10.1161/CIRCGENETICS.115.001086

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, et al. DOCK6 mutations are responsible for a distinct autosomal recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015. 36(6):593-598. doi: 10.1002/humu.22795

2010 – 2014:

Ormiston ML, Southgate L, Treacy C, Pepke-Zaba J, Trembath RC, Machado RD, Morrell NW. Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harbouring BMPR2 mutation. Am J Respir Crit Care Med. 2013. 188(2):258-260. doi: 10.1164/rccm.201301-0078LE

Southgate L, Machado RD (Dec 2011). Molecular genetics of pulmonary hypertension. In: eLS 2011, John Wiley & Sons, Ltd: Chichester. doi: 10.1002/9780470015902.a0022444

Nasim MT, Ogo T, Ahmed M, Randall R, Chowdhury HM, Snape KM, Bradshaw TY, Southgate L, et al. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Hum Mutat. 2011. 32(12):1385-1389. doi: 10.1002/humu.21605

Southgate L*, Machado RD*, Snape KM*, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, et al. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011. 88(5):574-585. doi: 10.1016/j.ajhg.2011.04.013

Denais C, Dent CL, Southgate L, Hoyle J, Dafou D, Trembath RC, Machado RD. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. Hum Mutat. 2011. 32(2):231-239. doi: 10.1002/humu.21413

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, et al. Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics. 2010. 11(4):379-389. doi: 10.1007/s10048-010-0243-8

Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, DeWan A, Sigurdsson A, Jonasdottir A, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010. 42(10):906-909. doi: 10.1038/ng.661

Soon E, Holmes AM, Treacy CM, Doughty NJ, Southgate L, Machado RD, Trembath RC, Jennings S, et al. Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation. 2010. 122(9):920-927. doi: 10.1161/CIRCULATIONAHA.109.933762

2001 – 2009:

Capon F, Di Meglio P, Szaub J, Prescott NJ, Dunster C, Baumber L, Timms K, Gutin A, et al. Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis. Hum Genet. 2007. 122(2):201-206. doi: 10.1007/s00439-007-0397-0

Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006. 38(11):1242-1244. doi: 10.1038/ng1893

Baumber L, Sjöstrand C, Leone M, Harty H, Bussone G, Hillert J, Trembath RC, Russell MB. A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort. Neurology. 2006. 66(12):1888-1893. doi: 10.1212/01.wnl.0000219765.95038.d7

Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet. 2005. 42(5):443-448. doi: 10.1136/jmg.2004.026898

Aldred MA, Baumber L, Hill A, Schwalbe EC, Goh K, Karwatowski W, Trembath RC. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing. Hum Genet. 2004. 115(5):428-431. doi: 10.1007/s00439-004-1171-1

Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, et al. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. Hum Genet. 2002. 111(4-5):456-461. doi: 10.1007/s00439-002-0817-0

Bois PR, Southgate L, Jeffreys AJ. Length of uninterrupted repeats determines instability at the unstable mouse expanded simple tandem repeat family MMS10 derived from independent SINE B1 elements. Mamm Genome. 2001. 12(2):104-111. doi: 10.1007/s003350010251

Dr Southgate is funded by the Academy of Medical Sciences and British Skin Foundation

• 2024 – 2027: British Skin Foundation (PhD studentship)

  L Southgate (PI), Anissa Chikh (co-I): ‘The Rhonski project: Examining Rho and Notch signalling in skin development and disease’

• 2021 – 2023: Academy of Medical Sciences (Springboard award)

L Southgate (PI): ‘Characterisation of the cellular role of ATP13A3 and functional impact of variation underlying pulmonary arterial hypertension’

Dr Southgate is a Fellow of Advance HE/Higher Education Academy. She lectures students on the BSc Biomedical Science and MSc Genomic Medicine courses, covering topics including genetics, rare diseases and genome-wide approaches to gene identification. She is also a personal tutor to MBBS Medicine and BSc Biomedical Science students.

In addition to conducting bioinformatics workshops, Dr Southgate supervises undergraduate and postgraduate laboratory-based research projects, providing opportunities to gain practical, real-life experience across a range of genetic, computational and molecular biology skills.