Dr Lettie Rawlins
NIHR Academic Clinical Lecturer
L.Rawlins@exeter.ac.uk
01392 408283
RILD Building Level 4
University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK
Overview
An NIHR Academic Clinical Lecturer in Clinical Genetics working with the Exeter Rare Disease Genomics Research Group led by Professors Emma Baple and Andrew Crosby. Lettie's research interests include identifying the genomic and molecular causes of rare genetic conditions, with a particular focus on neurodevelopmental disorders and the translation of research findings into benefits for patients through improved clinical diagnosis, testing and treatment strategies. Lettie's research also aims to identify potential therapeutic targets for these conditions and development of clinical trials of novel treatments, including drug repurposing.
Qualifications
- BSc Hons Neuroscience (University of Bristol)
- MBChB (University of Birmingham)
- MSc Healthcare Ethics and Law (University of Bristol)
- MRCP (Royal College of Physicians)
- PhD Medical Studies (University of Exeter)
Publications
Journal articles
Leslie J, Rawlins L, Chioza B, Olubodun O, Salter C, Fasham J, Jones H, Cross H, Lam S, Harlalka G, et al (In Press). MNS1 variant associated with situs inversus and male infertility. European Journal of Human Genetics, 1-18. Abstract.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, et al (2024). TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. Am J Med Genet A Abstract. Author URL.
Hamad A, Sherlaw-Sturrock CA, Glover K, Salmon R, Low K, Nair R, Sansbury FH, Rawlins L, Carmichael J, Horton R, et al (2023). Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: a multicentric analysis of 206 patients. Eur J Med Genet, 66(4). Abstract. Author URL.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH, Andersson MHL, Bupp C, Cambridge EL, et al (2023). Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain, 146(11), 4766-4783. Abstract. Author URL.
Marwan M, Dawood M, Ullah M, Shah IU, Khan N, Hassan MT, Karam M, Rawlins LE, Baple EL, Crosby AH, et al (2023). Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families. BMC Ophthalmol, 23(1). Abstract. Author URL.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, et al (2022). Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. Genet Med, 24(11), 2249-2261. Abstract. Author URL.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, et al (2022). Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS Genet, 18(3). Abstract. Author URL.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, et al (2022). Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med, 24(3), 631-644. Abstract. Author URL.
Sala-Gaston J, Pedrazza L, Ramirez J, Martinez-Martinez A, Rawlins LE, Baple EL, Crosby AH, Mayor U, Ventura F, Rosa JL, et al (2022). HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. Cell Mol Life Sci, 79(11). Abstract. Author URL.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, et al (2022). TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145(9), 3095-3107. Abstract. Author URL.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, et al (2021). A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLOS Genetics, 17(9), e1009803-e1009803. Abstract.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, et al (2019). An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet, 27(4), 657-662. Abstract. Author URL.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, et al (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med, 21(3), 663-675. Abstract. Author URL.
Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, et al (2019). Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC Med Genet, 20(1). Abstract. Author URL.
Lin S, Rawlins L, Turner C, Doyle E, Sleep T (2018). Novel ocular findings with 5p deletion and partial trisomy of distal 4q. Canadian Journal of Ophthalmology, 53(3), e89-e90.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract. Author URL.
Rawlins LE, Stals KL, Eason JD, Turnpenny PD (2017). De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. Clin Dysmorphol, 26(2), 95-97. Author URL.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract. Author URL.
Rawlins L, Woollard M, Hallam P, Williams J (2011). 06 Keeping the beat: does music improve the performance of chest compression by lay persons?. Emergency Medicine Journal, 28(3).
Woollard M, McWhinnie B, Poposki J, Rawlins L, Munro G, O'Meara P (2011). A11 Achy Breaky Makey Wakey Heart?. Emergency Medicine Journal, 28(11).
Woollard M, Poposki J, McWhinnie B, Rawlins L, Munro G, O'Meara P (2011). Achy breaky makey wakey heart? a randomised crossover trial of musical prompts. Emergency Medicine Journal, 29(4).
Woollard M, Poposki J, McWhinnie B, Rawlins L, Munro G, O’Meara P (2010). Achy breaky makey wakey heart?. Resuscitation, 81(2).
Rawlins L, Woollard M, Williams J, Hallam P (2009). Effect of listening to Nellie the Elephant during CPR training on performance of chest compressions by lay people: randomised crossover trial. The BMJ, 339(dec11 2).
