Group leader: Carmel Toomes, Associate Professor
Investigating retinal blood vessel development
We work on a number of Mendelian and complex eye disorders including retinal degeneration (LCA, PR, CRD AMD), retinal vascular disorders (FEVR, Norrie disease, ROP, Coats), optic neuropathies (optic atrophy, optic nerve hypoplasia) and developmental eye disorders (foveal hypoplasia, retinal dysplasia, microphthalmia).
Techniques we use include next generation sequencing, autozygosity mapping, traditional linkage mapping, immunohistochemistry, cellbased models, whole genome siRNA screening, bioinformatics and animal models.
Dr Carmel Toomes Group Leader, Associate Professor
Patricia Grant, EyeTN Project Administrator
EyeTN early stage research fellow, ESR5, to be appointed
EyeTN early stage research fellow, ESR6, to be appointed
EyeTN experienced research fellow, ER11, to be appointed
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R.
Nat Genet. 2012 Sep;44(9):1035-9
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C.
Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M. Hum Mol Genet. 2012 Feb 15;21(4):776-83.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.
Am J Hum Genet. 2010 Feb 12;86(2):248-53
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.
Am J Hum Genet. 2009 May;84(5):683-91.
FP7, Marie Curie Initial Training Network, Deputy Coordinator, Beyond the genome; training the next generation of ophthalmic researchers (EyeTN), €3,090,796, 2012-2016.
Royal Society, URF fellowship, PI, The identification and analysis of genes and proteins involved in FEVR. £750,000, 2004-2013.
Yorkshire Eye Research, Pilot grant, PI, Utilizing next-generation sequencing technology to identify new genes underlying inherited eye diseases. £7,500. 2010-2013.
Competitive fully funded PhD scholarships are available within the Faculty Graduate School.
Self-funded students are always welcomed to apply for postgraduate study. International students must meet the entry requirements for English. Bench fees are required.
Please email firstname.lastname@example.org for informal enquiries.
EyeTN website: http://www.eyetn.eu/
International autozygosity mapping consortium: http://autozygosity.co.uk/
BHRC Bioscreening technology group: http://www.bhrc.ac.uk/initiatives/technology-groups/bioscreening/