Dr Anne Child is a Reader in Cardiovascular Genetics.
She has a special interest in Marfan syndrome, with 25 years experience in diagnosis, management, and research into its many manifestations, as well as overlapping genetic disorders such as scoliosis, ascending aortic aneurysms, dislocated lens and glaucoma.
Dr Child is a University of Toronto Medical graduate. She studied Paediatrics, then Medical Genetics in Canada, the USA and London (Hospital for Sick Children, Guy’s Hospital), before settling at St George's.
Dr Child has authored over 100 scientific papers. As organiser of the International Consortium to find the Marfan syndrome gene (fibrillin-1) in 1991, and a major contributor of over 200 genotype – phenotype correlations to the International Marfan Database held in Paris, she has the broad experience to provide an overview of her group’s clinical and molecular genetic studies. She is also the principal genetic adviser to the national AIMS Trial of Irbesartan, involving 27 centres in the UK. This should determine whether Irbesartan is a medication which can preserve aortic wall architecture and prevent dissection.
Ocaka L, Zhao C, Reed Ja, Ebenezer N.D, Brice G, Morley T, Mehta M, O'Dowd J, Weber J.L, Hardcastle A.J, Child A.H. 11 Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel” J. Med. Genet. 2008;45 (2) ;87-92.
Faivre L, Collod-Beroud G, Callewaert B, Child A.H, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf J.E, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 2009 Apr;491-501.
Kiotsekoglou A, Bajpai A, Bijnens B.H, Kapetanakis V, Athanassopoulos G, Moggridge J.C, Mullen M.H, Nassiri D.K, Camm J, Sutherland G.R, Child A.H. Early impairment of left ventricular long-axis systolic function demonstrated by reduced artioventricular plane displacement in patients with Marfan syndrome. Eur J Echocardiogr. 2008 Sep;9(5):605-13.
Faivre L, Collod-Beroud G, Callewaert B, Child A.H, B.L, Binquet C, Gautier E, Arbustini E, K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf J.E, Robinson P.N, Adès L, de Backer J, Coucke P, Francke U, de Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009 May;149A(5):854-60.
Aragon-Martin J.A, Ahnood D, Aharteris D.G, Saggar A, Nischal K. K, Comeglio P, Chandra A, Child A. H. and Arno G.
Role of adamtsl4 mutations in FBN1 mutation-negative ectopia lentis patients. Human Mutation, 2010 31:E1622-E1631. doi:10.1002/humu.21305
Detaint D, Faivre L, Collod-Beroud G, Child A. H, Loeys B.L, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kichner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson P.N, Kiotsekoglou A, de Backer J, ades L, Francke U, de Paepe A, Boileau C, Jondeau G. Cardiovascular manifestations in men and women carrying a FBN1 mutation. European Heart Journal Advance Access. August, 2010
National AIMS trial (Aortic Irbesartan in Marfan Syndrome) – BHF funded.
Abdominal Aortic Aneurysm Consortium (Wellcome funded).
Lymphoedema Consortium UK.
Lipoedema Study Group (St George’s).
Mitral Valve Prolapse Study (Imperial College).
Glaucoma Consortium (University of Connecticut and Southampton University).
International Scoliosis Consortium (Cotrel Foundation).
Peter and Sonia Field Charitable Trust
BBC Discovery Channel (Connective Tissue Disorders)
Police Consultancy – Coroner's Expert Witness, Marfan Syndrome