Yr Athro Jeremy Cheadle

Timau a rolau for Jeremy Cheadle

Athro
Yr Ysgol Meddygaeth

Mae'r Athro Cheadle yn arloeswr ym maes geneteg feddygol, sy'n nodedig am ei ymchwil helaeth a'i gyfraniadau at ddeall clefydau etifeddol. Gyda gyrfa sy'n ymestyn dros sawl degawd, mae wedi ennill enw da yn rhyngwladol am ei waith ar amrywiol anhwylderau genetig gan gynnwys Ffibrosis Systig, Clefyd Huntington, Syndrom Rett, a Sglerosis Tuberous. Mae ei ymchwil wedi datblygu ein dealltwriaeth o'r cyflyrau hyn yn sylweddol, gan gael effaith ddofn ar gymunedau gwyddonol a chlinigol (gweler tab Ymchwil).

Un o lwyddiannau nodedig yr Athro Cheadle oedd adnabod y genyn rhagdybiaeth canser y colon colorectal, MUTYH, yn 2002. Y darganfyddiad arloesol hwn oedd y tro cyntaf i ddiffyg mewn atgyweirio ysgarthiad sylfaenol gael ei gysylltu â chlefyd dynol etifeddol, gan gynnig mewnwelediadau newydd i sylfeini genetig CRC. Mae adnabod MUTYH wedi paratoi'r ffordd ar gyfer ymchwiliadau pellach i dueddiad genetig i ganser, gan ganiatáu ar gyfer gwell strategaethau asesu risg a sgrinio ledled y byd. Fe ffeiliodd yr Athro Cheadle IPR ar gyfer y gwaith hwn fel dyfeisiwr a'i drwyddedu i Myriad Genetics (UDA), a gynhyrchodd >£0.3M o daliadau breindal i Brifysgol Caerdydd.

Mae arbenigedd ymchwil yr Athro Cheadle yn ymestyn i nodi aleles tueddiad CRC trance isel, gan dynnu sylw at gymhlethdod ffactorau genetig sy'n gysylltiedig â rhagdueddiad canser. Mae ei waith wedi bod yn ganolog wrth broffilio mwtaniad somatig tiwmorau colorectal a defnyddio technolegau dilyniannu'r genhedlaeth nesaf i wella ein dealltwriaeth o eneteg canser. Mae goblygiadau'r gwaith hwn yn bellgyrhaeddol, gan gyfrannu at ddatblygu therapïau wedi'u targedu a dulliau meddygaeth wedi'u personoli ar gyfer cleifion canser.

Yn ystod y blynyddoedd diwethaf, mae'r Athro Cheadle wedi canolbwyntio ar adnabod biofarcwyr genetig sy'n gysylltiedig â goroesiad CRC, effeithiolrwydd cemotherapi, a gwenwyneddau sy'n gysylltiedig â thriniaeth. Mae'r ymchwil hon yn hanfodol ar gyfer gwella canlyniadau triniaeth a lleihau effeithiau andwyol, gan wella ansawdd bywyd cleifion canser yn y pen draw. Mae gan y gwaith hwn geisiadau uniongyrchol i'r thema therapiwteg uwch sy'n dod i'r amlwg ym Mhrifysgol Caerdydd. Ar hyn o bryd mae'r Athro Cheadle yn ymchwilio i enynnau newydd sy'n rhagflaenu i bolyposis a chanser colorectal, a ariennir gan Ymchwil Canser Cymru.

Mae ymroddiad yr Athro Cheadle i ymchwil yn cyd-fynd â'i ymrwymiad i addysg a mentoriaeth. Mae'n meithrin amgylchedd dysgu deinamig ar gyfer Ph.D. a myfyrwyr meddygol, gan annog meddwl beirniadol a syniadau arloesol. Mae ei arddull addysgu y gellir mynd ato yn ysbrydoli myfyrwyr i ymgysylltu'n ddwfn â'r pwnc, gan roi'r wybodaeth a'r sgiliau angenrheidiol iddynt ar gyfer gyrfaoedd mewn geneteg a meddygaeth yn y dyfodol. Hyd yn hyn, mae'r Athro Cheadle wedi goruchwylio ugain o fyfyrwyr PhD yn llwyddiannus (un ar bymtheg fel y prif oruchwyliwr), un myfyriwr MD a deg B.Sc lleoliad diwydiannol/rhyng-gyfrifedig. myfyrwyr y prosiect, gyda record cwblhau o 100% (gweler tab Addysgu). Mae nifer o'i fyfyrwyr PhD llwyddiannus wedi mynd ymlaen i swyddi ôl-ddoethurol mewn Sefydliadau mawreddog (e.e. Canolfan Ganser John Hopkins a Chanolfan Sanger Ymddiriedolaeth Wellcome).

Mae gan yr Athro Cheadle gysylltiadau agos â Labordy Gwasanaeth Geneteg Feddygol GIG Cymru Gyfan. Mae gan ei grŵp 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.

Adlewyrchir effaith gwaith yr Athro Cheadle yn ei gyhoeddiadau niferus, sy'n rhychwantu ystod eang o bynciau mewn geneteg feddygol a chanser. Mae wedi cyfrannu at dros gant o erthyglau a adolygwyd gan gymheiriaid, ac mae deuddeg ohonynt wedi'u cyhoeddi mewn cyfnodolion haen uchaf (Nature Genetics, Lancet, Science).

Mae'r Athro Cheadle yn adolygu grantiau ar gyfer cyrff cenedlaethol a rhyngwladol yn rheolaidd ac ar hyn o bryd mae'n aelod o Banel Adolygu Arbenigol Ymchwil Canser y DU ar gyfer Canfod a Diagnosis Cynnar, a grantiau Atal ac Ymchwil Poblogaeth. Ef yw Prif Ymchwilydd treial cenedlaethol y DU 'Mecanweithiau yn Polyposis y coluddyn' sy'n agored i ad-dalu.

Date
Type

2020

Cornish, A. J. et al. 2020. Modifiable pathways for colorectal cancer: a mendelian randomisation analysis. Lancet Gastroenterology and Hepatology 5(1), pp. 55-62. (10.1016/S2468-1253(19)30294-8)
Summers, M. G., Maughan, T. S., Kaplan, R., Law, P. J., Houlston, R. S., Escott-Price, V. and Cheadle, J. P. 2020. Comprehensive analysis of colorectal cancer-risk loci and survival outcome: a prognostic role for CDH1 variants.. European Journal Of Cancer 124, pp. 56-63. (10.1016/j.ejca.2019.09.024)

2019

Gray, V. et al. 2019. Pattern recognition receptor polymorphisms as predictors of oxaliplatin benefit in colorectal cancer. JNCI: Journal of the National Cancer Institute 111(8), pp. 828-836. (10.1093/jnci/djy215)
Law, P. J. et al. 2019. Association analyses identify 31 new risk loci for colorectal cancer susceptibility. Nature Communications 10, article number: 2154. (10.1038/s41467-019-09775-w)

2018

West, H. et al. 2018. Role for nucleotide excision repair gene variants in oxaliplatin-induced peripheral neuropathy. JCO Precision Oncology 2, pp. 1-18. (10.1200/PO.18.00090)
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)
Madi, A. et al. 2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.. European Journal of Cancer 102, pp. 31-39. (10.1016/j.ejca.2018.07.009)
Tanskanen, T. et al. 2018. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. International Journal of Cancer 142(3), pp. 540-546. (10.1002/ijc.31076)

2017

May-Wilson, S. et al. 2017. Pro-inflammatory fatty acid profile and colorectal cancer risk: a Mendelian randomisation analysis. European Journal of Cancer 84, pp. 228-238. (10.1016/j.ejca.2017.07.034)
Summers, M., Smith, C., Maughan, T., Kaplan, R., Escott-Price, V. and Cheadle, J. P. 2017. BRAF and NRAS locus-specific variants have different outcomes on survival to colorectal cancer. Clinical Cancer Research 23(11), pp. 2742-2749. (10.1158/1078-0432.CCR-16-1541)
Rodriguez-Broadbent, H. et al. 2017. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer. International Journal of Cancer 140(12), pp. 2701-2708. (10.1002/ijc.30709)
Madi, A. et al. 2017. Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab. Journal of Medical Genetics 54(8), pp. 567-571. (10.1136/jmedgenet-2016-104317)
Seligmann, J. et al. 2017. Investigating the poor outcomes of BRAF-mutant advanced colorectal cancer: Analysis from 2530 patients in randomised clinical trials. Annals of Oncology 28(3), pp. 562-568. (10.1093/annonc/mdw645)

2016

Jarvis, D. et al. 2016. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer. British Journal of Cancer 115, pp. 266-272. (10.1038/bjc.2016.188)
Orlando, G. et al. 2016. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Human Molecular Genetics 25(11), pp. 2349-2359. (10.1093/hmg/ddw087)
Phipps, A. I. et al. 2016. Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. Carcinogenesis 37(1), pp. 87-95. (10.1093/carcin/bgv161)

2015

Cheng, T. H. T. et al. 2015. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. Scientific Reports 5, article number: 17369. (10.1038/srep17369)
Smith, C. G. et al. 2015. Analyses of 7,635 patients with colorectal cancer using independent training and validation cohorts show that rs9929218 in CDH1 is a prognostic marker of survival. Clinical Cancer Research 21(15), pp. 3453-3461. (10.1158/1078-0432.CCR-14-3136)
Al-Tassan, N. A. et al. 2015. A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. Scientific Reports 5, article number: 10442. (10.1038/srep10442)

2014

Venderbosch, S. et al. 2014. Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: a pooled analysis of the CAIRO, CAIRO2, COIN, and FOCUS studies. Clinical Cancer Research 20(20), pp. 5322-5330. (10.1158/1078-0432.CCR-14-0332)
Smith, C. G. et al. 2014. Response. Journal of the National Cancer Institute 106(5), pp. dju087. (10.1093/jnci/dju087)

2013

Smith, C. et al. 2013. Somatic profiling of the epidermal growth factor receptor pathway in tumors from patients with advanced colorectal cancer treated with chemotherapy ± cetuximab. Clinical Cancer Research 19(15), pp. 4104-4113. (10.1158/1078-0432.CCR-12-2581)
Smith, C. et al. 2013. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Journal of the National Cancer Institute 105(16), pp. 1249-1253. (10.1093/jnci/djt183)
Smith, C. et al. 2013. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Human Mutation 34(7), pp. 1026-1034. (10.1002/humu.22333)

2012

Dunlop, M. G. et al. 2012. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk [Letter]. Nature Genetics 44(7), pp. 770-776. (10.1038/ng.2293)
Houlston, R. S., Cheadle, J. P. and Maughan, T. S. 2012. COGENT (COlorectal cancer GENeTics) revisited. Mutagenesis 27(2), pp. 143-151. (10.1093/mutage/ger059)

2011

Maughan, T. S. et al. 2011. Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial. The Lancet 377(9783), pp. 2103-2114. (10.1016/S0140-6736(11)60613-2)
Spain, S. L. et al. 2011. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human Molecular Genetics 21(4), pp. 934-946. (10.1093/hmg/ddr523)
Tomlinson, I. P. M. et al. 2011. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genetics 7(6), article number: e1002105. (10.1371/journal.pgen.1002105)

2010

Houlston, R. S. et al. 2010. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33 [Letter]. Nature Genetics 42(11), pp. 973-977. (10.1038/ng.670)
Idziaszczyk, S. A., Wilson, C. H., Smith, C., Adams, D. J. and Cheadle, J. P. 2010. Analysis of the frequency of GNAS codon 201 mutations in advanced colorectal cancer [Letter]. Cancer Genetics and Cytogenetics 202(1), pp. 67-69. (10.1016/j.cancergencyto.2010.04.023)
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.

2009

Dallosso, A. R. et al. 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30(10), pp. 1412-1418. (10.1002/humu.21089)
Bonnet, C., Aldred, M., Von Ruhland, C. J., Harris, R., Sandford, R. and Cheadle, J. P. 2009. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Human Molecular Genetics 18(12), pp. 2166-2176. (10.1093/hmg/ddp149)
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

2008

Sampson, J. R. and Cheadle, J. P. 2008. Screening methods and sequences relating thereto. US7393940B2 [Patent].
Azzopardi, D. L. et al. 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68(2), pp. 358-363. (10.1158/0008-5472.CAN-07-5733)
Dallosso, A. R. et al. 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57(9), pp. 1252-1255. (10.1136/gut.2007.145748)
Payne, Y. et al. 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51(3), pp. 153-163. (10.1111/j.1399-0004.1997.tb02445.x)

2007

Goorden, S. M. I., van Woerden, G. M., van der Weerd, L., Cheadle, J. P. and Elgersma, Y. 2007. Cognitive deficits inTsc1+/-mice in the absence of cerebral lesions and seizures. Annals of Neurology 62(6), pp. 648-655. (10.1002/ana.21317)
Cheadle, J. P. and Sampson, J. R. 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6(3), pp. 274-279. (10.1016/j.dnarep.2006.11.001)
Dolwani, S. et al. 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56(4), pp. 593. (10.1136/gut.2006.094532)

2006

Wilson, C. H. et al. 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66(16), pp. 7934-8. (10.1158/0008-5472.CAN-06-1740)

2005

Wilson, C. H. et al. 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65(22), pp. 10179-10182. (10.1158/0008-5472.CAN-05-2688)
Colley, J. et al. 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26(2), pp. 165. (10.1002/humu.9354)
Wilson, C. H. et al. 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14(13), pp. 1839-1850. (10.1093/hmg/ddi190)
Sampson, J. R., Jones, S., Dolwani, S. and Cheadle, J. P. 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33(4), pp. 679-683. (10.1042/BST0330679)
Bai, H., Jones, S., Guan, X., Wilson, T. M., Sampson, J. R., Cheadle, J. P. and Lu, A. 2005. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Research 33(2), pp. 597-604. (10.1093/nar/gki209)

2004

Fleischmann, C., Peto, J., Cheadle, J. P., Shah, B., Sampson, J. R. and Houlston, R. S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109(4), pp. 554-558. (10.1002/ijc.20020)
Jones, S., Lambert, S., Williams, G. T., Best, J. M., Sampson, J. R. and Cheadle, J. P. 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90(8), pp. 1591-1593. (10.1038/sj.bjc.6601747)
Al-Tassan, N. et al. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114(2), pp. 207-210. (10.1007/s00439-003-1033-2)

2003

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. R. 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12(s2), pp. R159-R165. (10.1093/hmg/ddg259)
Sampson, J. R. et al. 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362(9377), pp. 39-41. (10.1016/S0140-6736(03)13805-6)
Gill, H. et al. 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40(5), pp. 380-384. (10.1136/jmg.40.5.380)
Cheadle, J. P., Dolwani, S. and Sampson, J. R. 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24(7), pp. 1281-1282. (10.1093/carcin/bgg068)
Emmerson, P., Maynard, J. H., Jones, S., Butler, R., Sampson, J. R. and Cheadle, J. P. 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21(2), pp. 112-115. (10.1002/humu.10159)
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.

2002

Jones, S. et al. 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11(23), pp. 2961-2967. (10.1093/hmg/11.23.2961)
Al-Tassan, N. et al. 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30(2), pp. 227-32. (10.1038/ng828)
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, pp. 363-366.
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.
Antonarakis, E. S., Sampson, J. R. and Cheadle, J. P. 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51(2), pp. 161-164. (10.1016/S0165-022X(02)00011-8)

2001

Hodges, A. K. et al. 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10(25), pp. 2899-9205. (10.1093/hmg/10.25.2899)
Parry, L. et al. 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85, pp. 1226-1230. (10.1054/bjoc.2001.2072)
Soucek, T., Rosner, M., Miloloza, A., Kubista, M., Cheadle, J. P., Sampson, J. R. and Hengstschläger, M. 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20(35), pp. 4904-4909.
Jones, A. C., Sampson, J. R. and Cheadle, J. P. 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17(3), pp. 233-234. (10.1002/humu.8)
Fleming, N., Maynard, J. H., Tzitzis, L., Sampson, J. R. and Cheadle, J. P. 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47(1-2), pp. 131-136. (10.1016/S0165-022X(00)00159-7)

2000

Benvenuto, G. et al. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19(54), pp. 6306-6316. (10.1038/sj.onc.1204009)
Cheadle, J. P., Dobbie, L., Idziaszczyk, S., Hodges, A. K., Smith, A. J., Sampson, J. R. and Young, J. 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11(12), pp. 1135-1138. (10.1007/s003350010203)
Lamlum, H. et al. 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9(15), pp. 2215-2221.
Cheadle, J. P., Reeve, M. P., Sampson, J. R. and Kwiatkowski, D. J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107(2), pp. 97-114. (10.1007/s004390000348)
Jones, A. C., Sampson, J. R., Hoogendoorn, B., Cohen, D. and Cheadle, J. P. 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106(6), pp. 663-668. (10.1007/s004390000316)
Parry, L., Maynard, J. H., Patel, A., Hodges, A., von Deimling, A., Sampson, J. R. and Cheadle, J. P. 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107(4), pp. 350-356. (10.1007/s004390000390)
Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9(7), pp. 1119-1129. (10.1093/hmg/9.7.1119)

1999

Jones, A. C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P. J., Cheadle, J. P. and O'Donovan, M. C. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45(8), pp. 1133-1140.
Jones, A. C. et al. 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64(5), pp. 1305-1315. (10.1086/302381)

1998

van Slegtenhorst, M. et al. 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7(6), pp. 1053-1057. (10.1093/hmg/7.6.1053)

1997

Jones, A. C. et al. 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6(12), pp. 2155-2161. (10.1093/hmg/6.12.2155)
Sampson, J. R. et al. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61(4), pp. 843-851. (10.1086/514888)
Maheshwar, M. M., Cheadle, J. P., Jones, A. C., Myring, J., Fryer, A. E., Harris, P. C. and Sampson, J. R. 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6(11), pp. 1991-1996. (10.1093/hmg/6.11.1991)
Kobayashi, T., Urakami, S., Cheadle, J. P., Aspinwall, R., Harris, P., Sampson, J. R. and Hino, O. 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8(8), pp. 554-558. (10.1007/s003359900502)
van Slegtenhorst, M. et al. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277(5327), pp. 805-808. (10.1126/science.277.5327.805)
Aspinwall, R. et al. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. Proceedings of the National Academy of Sciences of the United States of America 94(1), pp. 109-114.

1996

Maheshwar, M. M., Sandford, R., Nellist, M., Cheadle, J. P., Sgotto, B., Vaudin, M. and Sampson, J. R. 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5(1), pp. 131-137. (10.1093/hmg/5.1.131)

1995

Cheadle, J. P., Meredith, A. L., Millar-Jones, L. and Goodchild, M. C. 1995. Two CF patients, one homozygous for the 621 + 1G>T splice mutation, the other homozygous for the 1898 + 1G>A splice mutation [Letter]. Journal of Medical Genetics 32(2), pp. 158-158. (10.1136/jmg.32.2.158)
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.
Schwarz, M. J. et al. 1995. Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories. Human Mutation 6(4), pp. 326-333. (10.1002/humu.1380060406)

1994

James, C., Houlihan, G. D., Snell, R. G., Cheadle, J. P. and Harper, P. S. 1994. Late-onset Huntington's Disease: a clinical and molecular study. Age and Ageing 23(6), pp. 445-448. (10.1093/ageing/23.6.445)
Cheadle, J. P., Belloni, E., Ferrari, M., Millar-Jones, L. and Meredith, A. L. 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3(8), pp. 1431-1432. (10.1093/hmg/3.8.1431)
Cheadle, J. P. 1994. Population variation of common cystic fibrosis mutations. Human Mutation 4(3), pp. 167-177. (10.1002/humu.1380040302)

1993

Cheadle, J. P., AI-Jader, L. N. and Meredith, A. L. 1993. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2(3), pp. 317-319. (10.1093/hmg/2.3.317)
MacMillan, J. C. et al. 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342(8877), pp. 954-958. (10.1016/0140-6736(93)92002-B)
Cheadle, J. P., Goodchild, M. C. and Meredith, A. L. 1993. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales. Human Molecular Genetics 2(10), pp. 1551-1556. (10.1093/hmg/2.10.1551)
Snell, R. G. et al. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4(4), pp. 393-397. (10.1038/ng0893-393)
Cheadle, J. P., Al-Jader, L. N. and Meredith, A. L. 1993. A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Molecular Genetics 2(7), pp. 1067-1068. (10.1093/hmg/2.7.1067)

1992

al-Jader, L. N. et al. 1992. Severity of chest disease in cystic fibrosis patients in relation to their genotypes. Journal of Medical Genetics 29(12), pp. 883-887. (10.1136/jmg.29.12.883)
Cheadle, J. P., Myring, J., al-Jader, L. and Meredith, L. 1992. Mutation analysis of 184 cystic fibrosis families in Wales. Journal of Medical Genetics 29(9), pp. 642-646. (10.1136/jmg.29.9.642)
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)

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 nodi 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 mwtaniannol sy'n sail i tiwmorigenesis cysylltiedig 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 prin niferus 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 "Adnabod 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 CRC-claf (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).
Uwch ymchwilydd yn nodi biofarcwyr genetig gwenwyndra i gemotherapi (Watts et al. IJC 2021, IJC 2022).
Uwch ymchwilydd yn nodi biofarcwyr genetig goroesi i CRC (Summers et al. Eur J Cancer 2020 & Wills et al. EJC 2021, GCC 2023 & Sci Rep 2025).

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). Breindaliadau a gynhyrchir ar gyfer Prifysgol Caerdydd dros £0.3M.

Cyfrifoldebau addysgu presennol mewn MEDIC

Tiwtor academaidd i ddeuddeg myfyriwr meddygol
Contibute i diwtorialau PCS Bl.1
Rhedeg adolygiad llenyddiaeth Bl.1 SSC
Rhedeg 2x wythnos o hyd Bl.2 SSC prosiectau bioinformatic cyflwyno geneteg canser
Cynhelir prosiectau biowybodol Bl.3 a 4 SSC yn rheolaidd
Cyfrannu at y cwrs Meddygaeth Genomeg
Cyfwelydd ar gyfer MMI

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
2023-2024: Katie Spiller
2023-2024: Lauren Revill

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
2022: Victoria Gray - Prif oruchwyliwr
2023: Christopher Wills - Prif oruchwyliwr
2023: Katie Watts - Prif oruchwyliwr

Myfyrwyr PhD cyfredol ac ysgolheigion gwadd

Amy Houseman - Prif oruchwyliwr
Megan Cheadle - Prif oruchwyliwr

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, Coleg Meddygaeth Prifysgol Cymru (UWCM).

Trosolwg gyrfa

1994-1995: Swyddog Ymchwil Ôl-ddoethurol, UWCM.
1995-2000: Darlithydd anghlinigol, UWCM.
2000-2005: Uwch-ddarlithydd anghlinigol, UWCM/Prifysgol Caerdydd.
2005-presennol: Athro Geneteg Feddygol, Prifysgol Caerdydd.

Anrhydeddau a dyfarniadau

2014: Enillydd Gwobr Arloesi ac Effaith Arloesedd ac Effaith Prifysgol Caerdydd.
2017: Cynrychiolodd Brifysgol Caerdydd ym Mhrifysgol King Saud gyda gwledydd eraill y Gwlff, a noddir gan y Cyngor Prydeinig.

Contact Details

cheadlejp@caerdydd.ac.uk
+44 29 2251 5401
Adeilad Ymchwil Cardiofasgwlaidd Syr Geraint Evans, Ystafell 1/28, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN

Yr Athro Jeremy Cheadle

Timau a rolau for Jeremy Cheadle

Athro

Trosolwyg

Cyhoeddiad

2025

2024

2023

2022

2021