https://www.gosh.nhs.uk/our-people/staff-z/alison-male/

Dr Alison Male

This is a photo of Dr Alison Male

Consultant in Clinical Genetics

Dr Alison Male joined Great Ormond Street Hospital (GOSH) as a substantive Consultant in Clinical Genetics in 2004. Her specialist interest is in Prenatal genetics. She also runs general genetics clinics for both adults and children. Dr Male is the lead for Prenatal genetics within the Clinical Genetics team and also coordinates our visitor observation programme. Dr Male is also a peer reviewer and Specialist advisor for HFEA (Human Fertilisation and Embryology Authority)

Dr Male trained at St George’s Hospital, London. Her basic postgraduate training in Paediatrics took place in various hospitals and she undertook her Clinical Genetics training at Guy’s Hospital, London. She has a BSc in Basic Medical Sciences with Anatomy; University of London (1987), MB BS, University of London (1990) and MRCP (Paeds), (1993)

Specialisms

Area of special interest: Prenatal and fetal genetics

Research Interests: Prenatal Genetics, paediatric genetic disorders

Selected Publications:

  • The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. PMID: 33106617; PMCID: PMC7862067. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V.
  • The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. PMID: 32098966; PMCID: PMC7042299.Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I.
  • KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. J Peripher Nerv Syst. 2020 Jun;25(2):117-124. doi: 10.1111/jns.12368. Epub 2020 Mar 6. PMID: 32096284. Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K; Genomics England Research Consortium, Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P.
  • A clinical scoring system for congenital contractural arachnodactyly. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. PMID: 31316167. Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.
  • A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. Clin Genet. 2020 Jun;97(6):908-914. doi: 10.1111/cge.13728. Epub 2020 Mar 4. PMID: 32092148. Vogt J, Al-Saedi A, Willis T, Male A, McKie A, Kiely N, Maher ER.et Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. PMID: 33106617; PMCID: PMC7862067. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V.