Trosolwyg
Mae gan yr Athro Cheadle enw da rhyngwladol ers amser maith mewn ymchwil Genetig Feddygol. Mae wedi gweithio ar eneteg Ffibrosis Systig, Clefyd Huntington, Syndrom Rett a Sglerosis Tuberous. Yn 2002, Cheadle (gyda Sampson), oedd yn gyfrifol am adnabod y genyn rhagdybiaeth canser colorectal (CRC) MUTYH (Al-Tassan et al. Nat Genet 2002, Jones et al. Hum Mol Genet 2002, Sampson et al. Lancet 2003) - roedd hyn yn cynrychioli'r tro cyntaf i ddiffyg mewn atgyweirio ysgarthu sylfaenol fod yn gysylltiedig â chlefyd etifeddol dynol. Mae gan ei grŵp arbenigedd sylweddol hefyd mewn nodi isel (Azzopardi et al. Res Canser 2008, Houlston et al. Nat Genet 2010, Dunlop et al. Nat Genet 2012) a chymedrol (Smith et al. JNCI 2013) aleles trance CRC-susceptibility, proffilio mwtaniad somatig (Maughan et al. Lancet 2011, Smith et al. Clin Can Res 2013) a dilyniannu'r genhedlaeth nesaf (Smith et al. Hum Mutat 2013) .
Mae'r meysydd diddordeb presennol yn cynnwys nodi biofarcwyr genetig o (i) goroesi i CRC (Smith et al. Clin Can Res 2015, Summers et al. Eur J Cancer 2020), (ii) effeithiolrwydd cetuximab (Madi et al. J Med Genet 2017), (iii) gwenwyndra i gemotherapi (Madi et al. Eur J Cancer 2018) a (iv) niwroopathi ymylol a achosir gan oxaliplatin (Gorllewin et al. JCO Precision Oncology 2018). Ar hyn o bryd yn manteisio ar astudiaeth cymdeithas genom gyfan a dadansoddiadau seiliedig ar ddysgu peirianyddol i helpu i nodi biofarcwyr genetig pellach a deall eu defnyddioldeb rhagfynegol. Hefyd â diddordeb mewn astudio ein canfyddiadau mewn lleoliad sy'n seiliedig ar boblogaeth drwy fanteisio ar ddata o Fanc Bio'r DU.
Wedi'i ariannu gan Gofal Canser Tenovus, Ymchwil Canser Cymru a'r Ysgol Meddygaeth.
Cyhoeddiad
2023
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2022
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2021
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2020
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2019
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2018
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2017
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2016
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2015
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2014
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2013
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2012
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2011
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2010
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2009
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2008
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2007
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2006
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2005
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2004
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2003
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2002
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- Cheadle, J. P., Krawczak, M., Thomas, M. W., Hodges, A. K., Al-Tassan, N., Fleming, N. and Sampson, J. R. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62(2), pp. 363-366.
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2001
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2000
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1999
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1998
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1997
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1996
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1995
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1994
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1993
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- Cheadle, J. P., al-Jader, L. N., Goodchild, M. and Meredith, A. L. 1992. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. Journal of Medical Genetics 29(8), pp. 597-597. (10.1136/jmg.29.8.597)
Book sections
- Cheadle, J. P. 2010. MUTYH-associated polyposis. In: Rodriguez-Bigas, M. A. et al. eds. Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series Vol. 5. New York: Springer, pp. 133-146.
- Cheadle, J. P. 2009. MUTYH-associated colorectal polyposis and cancer. In: Schwab, M. ed. Encyclopedia of Cancer. 2nd ed. Springer
- Tee, A., Sampson, J. R. and Cheadle, J. P. 2009. Tuberous sclerosis complex. In: Schwab, M. ed. Encyclopedia of Cancer. 2nd ed. Springer
- Kwiatkowski, D., Reeve, M. P., Cheadle, J. P. and Sampson, J. R. 2003. Molecular genetics. In: Curatolo, P. ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology (Mac Keith Press) Cambridge: Cambridge University Press, pp. 228-263.
- Cheadle, J. P. and Sampson, J. 2003. Tuberous sclerosis: genetics. In: Cooper, D. N. ed. Encyclopedia of the Human Genome. London: Nature Publishing Group, pp. 650-656.
- Cheadle, J. P. and Shaw, D. J. 1995. The cystic fibrosis gene: cloning and characterisation. In: Shaw, D. J. ed. Molecular genetics of human inherited disease. Chichester: Wiley, pp. 41-68.
Conferences
- Madi, A. et al. 2018. Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. Presented at: 43rd ESMO Congress 2018, Munich, Germany, 19-23 October 2018, Vol. 29. Vol. Supple. Oxford University Press pp. VIII22., (10.1093/annonc/mdy269.072)
Patents
- Sampson, J. R. and Cheadle, J. P. 2008. Screening methods and sequences relating thereto. US7393940B2 [Patent].
Ymchwil
Prif gyflawniadau gwyddonol
- Prif ymchwilydd yn nodweddu moleciwlaidd 99.5% o gromosomau ffibrosis systig yng Nghymru (1993).
- Cefnogi ymchwilydd i benderfynu ar sail moleciwlaidd Clefyd Huntington (1993).
- Prif ymchwilydd yn clonio genyn Tuberous Sclerosis 1 (TSC1) (1997).
- Uwch ymchwilydd yn y dadansoddiad treiglad ac astudiaethau genoteip / ffenoteip o sglerosis tiwbrous (1997, 1999).
- Ymchwilydd arweiniol wrth nodi mwtaniadau yn MECP2 ac wrth bennu perthnasoedd genoteip-ffenoteip yn Syndrom Rett (2000).
- Uwch ymchwilydd wrth bennu sensitifrwydd a defnyddioldeb dadansoddiad dHPLC ar gyfer canfod mwtaniad (1999, 2000).
- Prif ymchwilydd wrth bennu'r berthynas rhwng gwahanol genoteipiau APC a'u manteision twf mewn tiwmorau colorectal (2002).
- Uwch ymchwilydd wrth adnabod nofel, treiddiad uchel, canser colorectal achosi genyn (MUTYH) (2002).
- Uwch ymchwilydd wrth nodi rhagor o deuluoedd polyposis sy'n gysylltiedig â MUTYH (MAP) a phenderfynu ar y mecanwaith mwtaniadol sy'n sail i diwmorynnau sy'n gysylltiedig â MUTYH (2002).
- Uwch ymchwilydd wrth bennu ffenoteip ac amlder MAP (2003).
- Uwch ymchwilydd wrth ddatblygu a nodweddu model llygoden knockout ar gyfer sglerosis tiwbrous (Tsc1) (2005).
- Uwch ymchwilydd mewn cymell tiwmorigenesis arennol yn Tsc1+/- llygod gyda lefelau uwch o LOH somatig (i hwyluso mapio genynnau targed) (2005).
- Uwch ymchwilydd sy'n dangos bod haploinsufficiency Tsc1 heb weithrediad mTOR yn ddigonol ar gyfer ffurfio cyst arennol yn Tsc1+/- llygod (2006).
- Uwch ymchwilydd yn dangos bod amrywiadau nonsynonymous prin lluosog yn APC rhagflaenu i adenomas colorectal (2008).
- Uwch ymchwilydd sy'n dangos bod diffygion mewn polaredd celloedd yn sail i TSC ac ADPKD sysogenesis cysylltiedig (2009).
- Uwch ymchwilydd treial clinigol a yrrir gan fiofarciwr somatig o effeithiolrwydd cetuximab mewn canser colorectal datblygedig (2011).
- Uwch ymchwilydd yn dangos rôl ar gyfer OGG1 mewn tiwmorigenesis colorectal (2013).
- Enillydd y Wobr Breakthrough Meddygol am waith arloesol (gyda Sampson) ar "Identification of MUTYH, y genyn canser colorectal recessive autosomal cyntaf, yn gwella rheolaeth canser y coluddyn teuluol" (2014).
- Uwch ymchwilydd sy'n dangos bod amrywiadau genetig etifeddol cyffredin yn dylanwadu ar ganlyniad cleifion CRC-(2015).
- Uwch ymchwilydd GWAS a meta-ddadansoddiadau sy'n arwain at adnabod tri loci risg CRC nofel (2015).
- Uwch ymchwilydd yn dangos bod amrywiadau somatic gwahanol yn BRAF a NRAS yn cael effeithiau gwahaniaethol ar oroesi i ganser colorectal (2017).
- Uwch ymchwilydd ar gyfer proffilio ffarmacolegol cynhwysfawr o'r llwybr derbynnydd ffactor twf epidermaidd ar gyfer biomarcwyr effeithiolrwydd cetuximab (2017).
- Uwch ymchwilydd ar gyfer dadansoddiadau ffarmacolegol o 2,183 o gleifion â chanser colorectal datblygedig a dangos rôl ar gyfer amrywiolion DPYD cyffredin mewn gwenwyndra i gemotherapi (2018).
- Mae uwch ymchwilydd sy'n dangos bod amrywiadau genynnau atgyweirio niwcleotide-excision yn chwarae rôl achosol mewn niwroopathi ymylol a achosir gan oxaliplatin (2018).
Mae gan Cheadle gysylltiadau agos â Labordy Gwasanaeth Geneteg Meddygol GIG Cymru Gyfan. Mae gan ei labordy hanes cryf o gyfieithu ymchwil sylfaenol i ymarfer clinigol yn y GIG ac yn rhyngwladol (profion diagnostig a ddatblygwyd ar gyfer MUTYH a sglerosis tiwbrous) a amlygwyd yng Ngwobr Pen-blwydd y Frenhines i'r Sefydliad Geneteg Feddygol yn 2007/8 ac a gydnabyddir yn nyfarniad Gwobr Arloesi ac Effaith Prifysgol Caerdydd 2014 (gyda Sampson), ac ym Mhrolot Effaith REF y DU 2010 fel un o bum enghraifft ym maes meddygaeth y DU.
Patentau ffeiliwyd - Dulliau sgrinio a dilyniannau sy'n ymwneud â hynny (ceisiadau MYH 1&2). Rhif patent: WO03014390, Dyddiad cyhoeddi: 2003-02-20, dyfeiswyr: Cheadle Jeremy Peter (GB); Sampson Julian Roy (GB), Ymgeiswyr: Meddygaeth Univ Cymru (GB); Jeremy Peter (GB); Sampson Julian Roy (GB), Rhif Cais: WO2002GB03591 20020802, Rhifau Blaenoriaeth: GB20010018995 20010803, dosbarthiad IPC: C12Q1 / 68 - Trwyddedig (yn unig) i Myriad Geneteg ym mis Mawrth 2004 (UDA yn unig).
Addysgu
Mae Cheadle wedi goruchwylio 17 o fyfyrwyr PhD yn llwyddiannus (tri ar ddeg fel y prif oruchwyliwr), un myfyriwr MD ac wyth B.Sc lleoliad diwydiannol/rhyng-gyfrifedig. Myfyrwyr y prosiect, gyda chofnod cwblhau o 100% (a restrir isod). Mae nifer o'i fyfyrwyr PhD llwyddiannus wedi mynd ymlaen i swyddi ôl-ddoethurol mewn Sefydliadau mawreddog (e.e. Jones yn labordy Vogelstein yng Nghanolfan Ganser John Hopkins, Wilson yng Nghanolfan Sanger Ymddiriedolaeth Wellcome a, West and Smith ym Mhrifysgol Caergrawnt). Ar hyn o bryd mae'n fentor academaidd i ddeg o fyfyrwyr meddygol.
Lleoliad diwydiannol a B.Sc Intercalated. myfyrwyr
- 1996-1997: Maria Tachataki - 1af
- 1997-1998: Meinir Thomas - 1af
- 1998-1999: Amit Patel - 2:1
- 1999-2000: Loukas Tzitzis - 2:1
- 2000-2001 - Emmanuel Antonarakis - 1af
- 2001-2002: Paul Emmerson - 1af
- 2002-2003: Sally Lambert - 1af
- 2006-2007: Edward Rawstorne - 1af
M.D. myfyrwyr
- 2011: Ayman Madi - goruchwyliwr Prinicipal
Ph.D. myfyrwyr
- 2000: Alistair Jones - Prif oruchwyliwr
- 2002: Lee Parry - Cyd-oruchwyliwr
- 2003: Nada Al-Tassan - Prif oruchwyliwr
- 2005: Sian Jones - Prif oruchwyliwr
- 2006: Catherine Wilson - Prif Oruchwyliwr
- 2008: Natalie Jones - Cyd-oruchwyliwr
- 2009: Cleo Bonnet - Prif oruchwyliwr
- 2009: Duncan Azzopardi - Prif oruchwyliwr
- 2011: Mark Davies - Cyd-oruchwyliwr
- 2011: Christopher Smith - Prif Oruchwyliwr
- 2011: Mark Aldred, Prif Oruchwyliwr
- 2012: James Colley - Prif Oruchwyliwr
- 2013: Hannah West - Prif oruchwyliwr
- 2015: Richard Webster - Cyd-oruchwyliwr
- 2016: Michelle Coffey - Prif oruchwyliwr
- 2016: Marc Naven - Prif oruchwyliwr
- 2020: Matthew Summers - Prif oruchwyliwr
Myfyrwyr PhD cyfredol
- Victoria Gray - Prif oruchwyliwr
- Christopher Wills - Prif oruchwyliwr
- Katie Watts - Prif oruchwyliwr
Bywgraffiad
Addysg a chymwysterau
- 1987-1990: B.Sc. (Anrh) Biocemeg gyda Bioleg Foleciwlaidd Gymhwysol, Sefydliad Gwyddoniaeth a Thechnoleg Prifysgol Manceinion (UMIST): Dosbarth 1af.
- 1990-1994: Ph.D., Geneteg Feddygol, UWCM.
Trosolwg gyrfa
- 1994-1995: Swyddog Ymchwil Ôl-ddoethurol, UWCM.
- 1995-2000: Darlithydd anghlinigol, UWCM.
- 2000-2005: Uwch-ddarlithydd anghlinigol, UWCM/CU.
- 2005-presennol: Athro Geneteg Feddygol, CU.
Anrhydeddau a dyfarniadau
- 2014: Enillydd Gwobr Arloesi ac Effaith Arloesedd ac Effaith Prifysgol Caerdydd.