Melita Irving

Consultant clinical geneticist

Biography

Melita Irving trained in paediatrics before joining the clinical genetics department at Guy’s and St Thomas’ NHS Foundation Trust.

She undertook a fellowship in skeletal dysplasia at the Royal Children’s Hospital, Melbourne, and has set up clinics in skeletal dysplasia and achondroplasia at Evelina London Children’s Hospital.

She is lead clinician in the clinical genetics department, which provides a service across south London, Kent and east Sussex.

She is committed to improving this service in line with new developments in the field, such as genomic medicine, and to translational research in rare diseases.

Further information

A new direction for prenatal chromosome microarray testing: softwaretargeting for detection of clinically significant chromosome imbalance without equivocal findings. Ahn JW, Bint S, Irving MD, Kyle PM, Akolekar R, Mohammed SN, Mackie Ogilvie C. PeerJ. 2014 Apr 22;2:e354. doi: 10.7717/peerj.354. eCollection 2014.

Clinical utility gene card for: 3-M syndrome - update 2013. HolderEspinasse M, Irving M, Cormier-Daire V. Eur J Hum Genet. 2014 Apr;22(4).

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. Ghanim M, Rossignol S, Delobel B, Irving M, Miller O, Devisme L, Plennevaux JL, Lucidarme-Rossi S, Manouvrier S, Salah A, Chivu O, Netchine I, Vincent-Delorme C. Am J Med Genet A. 2013 Mar;161(3):572- 7.

De novo mutations in MLL cause Wiedemann-Steiner syndrome. Jones WD, Dafou D, McEntagart M, Woollard WJ, Elmslie FV, Holder-Espinasse M, Irving M, Saggar AK, Smithson S, Trembath RC, Deshpande C, Simpson MA. Am J Hum Genet. 2012 Aug 10;91(2):358-64.

Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation. Kannu P, Nour M, Irving M, Xie J, Loder D, Lai J, Islam O, Mackenzie J, Messiaen L. Clin Genet. 2012 Apr 25

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.Gray MJ, Kim CA, Bertola DR, Arantes PR, Stewart H, Simpson MA, Irving MD, Robertson SP. Eur J Hum Genet. 2012;20(1):122-4

Clinical management of achondroplasia. Wright MJ, Irving MD. Arch Dis Child. 2012; 97(2):129-34.

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Kannu P, Irving M, Aftimos S, Savarirayan R. Clin Orthop Relat Res. 2011 Jun;469(6):1785-90

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Nat Genet 6;43(4):303-5.