Dr Heena V. Lad

Biography & Research interests

Initial interests within genetics arose during contributions towards finishing and annotation of the major genome projects for human, mouse and zebrafish at the Wellcome Sanger Institute. This was extended in a European funded research post (MRC Harwell Institute) that aimed to improve and standardise phenotyping approaches using the mouse as a genetic toolkit to study mutations and understand disease. A PhD (Social, Genetic and Developmental Psychiatry Research Centre, Kings College London; University Medical Center, Utrecht) thesis was completed on different genetic reference populations and QTL mapping to identify genes underpinning traits in mouse models of depression. Used mouse models of hypertrophic cardiomyopathy and pharmacological applications (University of Oxford, Cardiovascular Medicine) to investigate treatment for the disease. Current research has involved identifying and characterising mutants derived from the Harwell ENU-mutagenesis aging screen.

Current Projects

Research projects currently working on include neurobehavioural mutants found in the Harwell ENU-mutagenesis aging screen:

  1. Characterisation of an unknown mutation identified in whirlin, a gene involved in deafness, towards revealing the pleiotropic function of the protein.
  2. Investigating a mutation in an uncharacterised gene, Kiaa1109, which has recently been reported to be critical for proper brain development and arthrogryposis.

Selected Publications

Brown SDM & Lad HV. (2019) The dark genome and pleiotropy: challenges for precision medicine. Mammalian Genome pp1-5

Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD (2016) Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nature Communications

Gehmlich K, Dodd MS, Allwood JW, Bellahcene M, Lad HV, Stockenhuber A, Hooper C, Ashrafian H, Redwood CS, Carrier L, Dunn WB (2015) Changes in the cardiac metabolome caused by perhexiline treatment in a mouse model of hypertrophic cardiomyopathy. Molecular Biosystems

Lad HV, Liu L, Paya-Cano J, Parsons MJ, Kember R, Fernandes C, Schalkwyk LC (2010) Behavioural battery testing: evaluation and behavioural outcomes in 8 inbred mouse strains. Physiology & Behaviour

Kõks S, Velthut A, Sarapik A, Altmäe S, Reinmaa E, Schalkwyk LC, Fernandes C, Lad HV, Soomets U, Jaakma Ü, Salumets A. (2010). The differential transcriptome and ontology profiles of mural and cumulus granulosa cells in stimulated human antral follicles. Molecular Human Reproduction

Mandillo S, Tucci V*, Holter SM*, Meziane H*, Banchaabouchi MA*, Kallnik M*, Lad HV*, Nolan PM*, Ouagazzal A-M*, Coghill E, Gale K, Golini E, Jacquot S, Krezel W, Parker A, Riet F, Schneider I, Marazziti D, Auwerx JH, Brown SDM, Chambon P, Rosenthal N, Tocchini-Valentini G, Wurst W (2008) Reliability, Robustness and Reproducibility in mouse behavioral phenotyping: a cross-laboratory study. Physiological Genomics 34:243-255. *Joint first authors

Lad HV, Liu L, Payá-Cano JL, Fernandes C, Schalkwyk LC (2007) Quantitative traits for the tail suspension test: automation, optimization, and BXD RI mapping. Mammalian Genome 18(6):482-491

Tucci V, Achilli F, Blanco G, Lad HV, Wells S, Godinho S, Nolan PM (2007) Reaching and grasping phenotypes in the mouse (Mus musculus): a characterization of inbred strains and mutant lines. Neuroscience 147:573-582

Tucci V, Lad HV, Parker A, Polley S, Brown SDM, Nolan, PM (2006) Gene-environment interactions differentially affect mouse strain behavioral parameters. Mammalian Genome 17:1113-1120

Gregory SG,… Lad H, et al (2006) The DNA sequence and biological annotation of human chromosome 1. Nature 441 315-321

Brown, SDM, Lad H, Green E, Gkoutos G, Gates H, Hrabé de Angelis M, and the EUMORPHIA consortium (2006) EUMORPHA and the European Mouse Phenotyping Resource for Standardised Screens (EMPReSS). In Standards of Mouse Model Phenotyping. Eds. Hrabé de Angelis, M., Chambon, P., Brown, S. Wiley-VCH, Weinheim, pp309-317

Green ECJ, Gkoutos GV, Lad HV, Blake A, Weekes J, Hancock JM (2005) EMPReSS: European Mouse Phenotyping Resource for Standardized Screens. Bioinformatics 21(12): 2930-2931

International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431 931-945

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