Dr Melita Irving

 Professional experience

• More than 25 years of experience
• Consultant Geneticist, HCA The Shard, London (present)
• Consultant Geneticist, The Portland Hospital, London (present)
• Consultant Geneticist and Honorary Reader in Clinical Genetics, Guy's & St Thomas' NHS Trust, London (present)
• Joint head of service, Department of Clinical Genetics, Guy's Hospital (2014 - 2016)

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 Sub-specialties

• Genetic counselling
• Genetic diagnosis
• Fetal medicine genetics
• Skeletal dysplasia
• Achondroplasia
• Chromosome abnormalities
• Genomic medicine
• Genetic syndromes
• Genetic variants
• Genetic health risk reports
• Carrier testing
• Raised paternal age
• Raised maternal age
• Klinefelter syndrome
• Aneuploidy
• Cousins
• Consanguinity
• Infertility
• Y chromosome
• X chromosome
• Karyotype
• Mosaicism
• Telephone consultations

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 Teaching posts

• Faculty Member, Skeletal Dysplasia Group Instructional Course (2012 - present)
• Lecturer to undergraduate medical students, King's School of Medicine (2007 - present)
• Postgraduate Training Lead, Clinical Genetics, Guy's Hospital (2005 - present)
• Career insight and taster sessions in Clinical Genetics, Programme Coordinator (2004 - present)

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 Education

• Fellowship in Skeletal Dysplasia, The Royal Children's Hospital
• Fellowship, The Murdoch Children's Research Institute
• MD(Res), King's College London (2014)
• MRCPH, Membership of the Royal College of Paediatrics and Child Health (1999)
• Senior House Officer, East London Paediatric Training Scheme (1998 - 2000)
• MBBS, The London Hospital Medical College, University of London (1996)
• BSc(Hons) in Genetics, University College London (1994)
• FRCPCH, Fellow of the Royal College of Paediatrics and Child Health (2019)

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 Publications and conferences

• Chromosomal anomalities:-
• Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
• Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
• Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.
• A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
• Developmental disorders and genetic syndromes:-
• Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study
• Clinical and genetic aspects of KBG syndrome
• De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
• Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study
• Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome
• De novo mutations in MLL cause Wiedemann-Steiner syndrome
• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
• Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
• Neonatal teeth in X-linked Opitz (G/BBB) syndrome
• Genomic disorders:-
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
• Skeletal dysplasia:-
• Best Practices in Peri-Operative Management of Patients with Skeletal Dysplasia
• Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family
• Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
• End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome
• Clinical utility gene card for: 3-M syndrome - update 2013
• Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
• Clinical management of achondroplasia
• Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation
• Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
• Clinical utility gene card for: 3M syndrome
• Chondrodysplasia punctata: a clinical diagnostic and radiological review
• Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
• IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
• Cancer Genetics:-
• Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice
• Genetics of breast cancer

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 Prizes and awards

• Winner of the Genetic Healthcare Provider (GHP) Private Healthcare Awards  (2019)
• Maroteaux Award for furthering the understanding of skeletal conditions (2011)
• Ellison-Cliffe Foundation travelling fellow award, the Royal Society of Medicine (2006)
• Guy’s and St Thomas’ Charity staff development award (2006)

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 Professional membership

• Skeletal Dysplasia Management Consortium
• UK Skeletal Dysplasia Group
• PanThames Skeletal Dysplasia Group
• The Royal Society of Medicine

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