https://www.gosh.nhs.uk/our-people/staff-z/Lara_Menzies/
Dr Lara Menzies
Consultant in Clinical Genetics and Genomic Medicine
Dr Menzies has been a Consultant in Clinical Genetics and Genomic Medicine at Great Ormond Street Hospital since 2022. She is an Honorary Associate Professor at University College London and is a doctoral supervisor. She is also a memebr of the RCPCH Genomics Working Group.
Dr Menzies undertakes clinics in paediatric genetics, craniofacial genetics and neurogenetics. Prior to specialising in Genetics, she trained as a Paediatrician and completed a PhD in neuroimaging at the University of Cambridge which was awarded a British Neuroscience Association prize (2008). Dr Menzies obtained her medical degree at The University of Cambridge (2009), the MRCPCH (2013) and obtained PGCerts in Advanced Paediatrics (2015, UCL, Distinction) and in Genomics (2019, St George’s London).
Dr Menzies has published widely in the fields of neuroscience and genetics and her research has been cited >5000 times. In 2020 she was awarded an RCPath Silver Research Medal for her work on neurovascular abnormalities in Floating-Harbor syndrome, a rare genetic disorder. She has a keen interest in medical education and teaches regularly. She has worked closely with charities such as Unique and Medics4RareDiseases to translate research findings into meaningful information for families. During the Covid19 pandemic, Dr Menzies worked for the British Society of Genomic Medicine and the Clinical Genetics Society to produce a number of online rare disease information resources about Covid19.
Specialisms
Areas of special interest: Neurogenetics, Inherited white matter disorders, Craniofacial genetics
Research interests: Neurogenetics, MRI brain phenotypes of genetic conditions
Selected publications:
- Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes. Eriksson MH, Whitaker KJ, Booth J, Piper RJ, Chari A, Martin Sanfilippo P, Caballero AP, Menzies L, McTague A, Adler S, Wagstyl K, Tisdall MM, Cross JH, Baldeweg T. Epilepsia. 2023 Jun 2. doi: 10.1111/epi.17670. Online ahead of print. PMID: 37264783
- Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. Hum Mol Genet. 2023 May 11:ddad079. doi: 10.1093/hmg/ddad079. Online ahead of print. PMID: 37166351
- Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.Ververi A*, Zagaglia S*, Menzies L*, Baptista J, Caswell R et al. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. PMID: 36067010
- Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Ibañez K, Polke J, Hagelstrom RT, et al .Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2.PMID: 35182509
- Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study.Buendia O, Shankar S, Mahon H, Toal C, Menzies L, Ravichandran P, Roper J, Takhar J, Benfredj R, Evans W.Orphanet J Rare Dis. 2022 Feb 16;17(1):54. doi: 10.1186/s13023-022-02216-w.PMID: 35172857
- L1CAM variants cause two distinct imaging phenotypes on fetal MRI. Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M.Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12.PMID: 34510796