Trosolwg
Mae'r Athro Cheadle yn arweinydd ym maes geneteg feddygol, sy'n nodedig am ei ymchwil helaeth a'i gyfraniadau at ddeall clefydau etifeddol. Gyda gyrfa sy'n rhychwantu sawl degawd, mae wedi ennill enw da rhyngwladol am ei waith ar anhwylderau genetig amrywiol gan gynnwys Ffibrosis Systig, Clefyd Huntington, Syndrom Rett, a Sglerosis Tuberous. Mae ei ymchwil wedi datblygu'n sylweddol ein dealltwriaeth o'r cyflyrau hyn, gan gael effaith ddofn ar gymunedau gwyddonol a chlinigol.
Un o gyflawniadau nodedig yr Athro Cheadle oedd adnabod y genyn rhagdueddiad canser y colon a'r rhefr (CRC), MUTYH, yn 2002. Mae'r darganfyddiad arloesol hwn yn nodi'r tro cyntaf i ddiffyg atgyweirio tynnu sylfaen gael ei gysylltu â chlefyd dynol etifeddol, gan gynnig mewnwelediadau newydd i sail genetig CRC. Mae adnabod MUTYH wedi paratoi'r ffordd ar gyfer ymchwiliadau pellach i sensitifrwydd genetig i ganser, gan ganiatáu ar gyfer gwell asesu risg a strategaethau sgrinio ledled y byd. Ffeiliodd yr Athro Cheadle IPR fel dyfeisiwr a'i drwyddedu i Myriad Genetics (UDA), a gynhyrchodd >£0.3M o breindaliadau i Brifysgol Caerdydd.
Mae arbenigedd ymchwil yr Athro Cheadle yn ymestyn i nodi alelau sensitifrwydd CRC treiddiad isel, gan dynnu sylw at gymhlethdod ffactorau genetig sy'n gysylltiedig â rhagdueddiad canser. Mae ei waith wedi bod yn allweddol wrth broffilio treigladau somatig tiwmorau colon a'r rhefr a defnyddio technolegau dilyniannu'r genhedlaeth nesaf i wella ein dealltwriaeth o geneteg 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 goroesi CRC, effeithiolrwydd cemotherapi, a gwenwyndra 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 ymroddiad yr Athro Cheadle i ymchwil yn cyfateb i'w ymrwymiad i addysg a mentora. Mae'n meithrin amgylchedd dysgu deinamig ar gyfer Ph.D. a myfyrwyr meddygol, gan annog meddwl beirniadol a syniadau arloesol. Mae ei arddull addysgu hygyrch yn ysbrydoli myfyrwyr i ymgysylltu'n ddwfn â'r pwnc, gan eu harfogi â'r wybodaeth a'r sgiliau sy'n angenrheidiol ar gyfer gyrfaoedd mewn geneteg a meddygaeth yn y dyfodol. Hyd yn hyn, mae'r Athro Cheadle wedi llwyddo i oruchwylio un ar hugain o fyfyrwyr Ph.D. (saith ar bymtheg fel y prif oruchwylydd), un myfyriwr MD a deg myfyriwr prosiect lleoliad diwydiannol/B.Sc. rhyngweithiol, gyda chofnod cwblhau 100% (gweler y tab Addysgu). Mae nifer o'i fyfyrwyr Ph.D. llwyddiannus wedi mynd ymlaen i swyddi ôl-ddoethurol mewn Sefydliadau mawreddog.
Mae gan yr Athro Cheadle gysylltiadau agos â Labordy Gwasanaeth Geneteg Feddygol y GIG Cymru Gyfan. Mae gan ei grŵp hanes cryf o gyfieithu ymchwil sylfaenol i ymarfer clinigol yn y GIG ac yn rhyngwladol (profion diagnostig datblygedig ar gyfer MUTYH a sglerosis tiwberaidd) a amlygwyd yng Ngwobr Pen-blwydd y Frenhines i'r Sefydliad Geneteg Feddygol yn 2007/8 ac a gydnabuwyd yng ndyfarniad Gwobr Arloesi ac Effaith Arloesi ac Effaith Prifysgol Caerdydd 2014 (gyda Sampson), ac yn Peilot Effaith REF y DU 2010 fel un o bum esiampl ym maes meddygaeth y DU.
Adlewyrchir effaith gwaith yr Athro Cheadle yn ei gyhoeddiadau niferus, sy'n rhychwantu ystod eang o bynciau o fewn geneteg feddygol a chanser. Mae wedi cyfrannu at dros gant o erthyglau a adolygwyd gan gymheiriaid, y mae deuddeg ohonynt wedi'u cyhoeddi mewn cyfnodolion haen uchaf. 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 grantiau Canfod a Diagnosis, ac Atal ac Ymchwil Poblogaeth.
Cyhoeddiad
2026
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2025
- Wills, C. et al. 2025. Relationship between inherited genetic variation and survival from colorectal cancer stratified by tumour location. Scientific Reports 15 2423. (10.1038/s41598-024-77870-0)
2024
- Chen, Z. et al., 2024. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes. Nature Communications 15 (1) 3557. (10.1038/s41467-024-47399-x)
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2023
- Wills, C. et al. 2023. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Genes Chromosomes and Cancer 62 (6), pp.332-341. (10.1002/gcc.23133)
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2022
- Fernandez-Rozadilla, C. et al., 2022. Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and East Asian ancestries. Nature Genetics (10.1038/s41588-022-01222-9)
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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
- 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. et al. 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)
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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 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 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. Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. Human Mutation 34 (7), pp.1026-1034. (10.1002/humu.22333)
- 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)
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) 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)
- Cheadle, J. P. 2010. MUTYH-associated polyposis. In: Rodriguez-Bigas, M. A. et al., Hereditary Colorectal Cancer. M.D. Anderson Solid Tumor Oncology Series Vol. 5.New York: Springer. , pp.133-146.
- Idziaszczyk, S. A. et al. 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)
2009
- Bonnet, C. et al. 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
- 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)
- 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. 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
- 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)
- 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)
- Goorden, S. M. I. et al., 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)
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)
- 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)
- Bai, H. et al., 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)
- 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)
- Sampson, J. R. et al. 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33 (4), pp.679-683. (10.1042/BST0330679)
2004
- 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)
- Fleischmann, C. et al., 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. et al. 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)
2003
- 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)
- Emmerson, P. et al. 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. , 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)
- 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 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)
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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. et al. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62 , 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)
- Soucek, T. et al., 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20 (35), pp.4904-4909.
- Fleming, N. et al., 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)
- 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)
- 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)
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)
- 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. et al. 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11 (12), pp.1135-1138. (10.1007/s003350010203)
- 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)
- Cheadle, J. P. et al. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107 (2), pp.97-114. (10.1007/s004390000348)
- Jones, A. C. et al., 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. et al. 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)
1999
- Jones, A. C. et al., 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
- 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.
- 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)
- Kobayashi, T. et al., 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)
- Maheshwar, M. M. et al., 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)
- 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)
- 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)
1996
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1995
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- 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. et al. 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)
- Cheadle, J. P. et al. 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)
Patentau
- 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 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.
Addysgu
Cyfrifoldebau addysgu cyfredol yn MEDIC
- Tiwtor academaidd i ddeuddeg myfyriwr meddygol
- Cynnal adolygiad llenyddiaeth SSC Bl.1
- Cynnal prosiectau biowybodeg Bl.2 Bl.2 wythnos o hyd sy'n cyflwyno geneteg canser
- Cynnal prosiectau biowybodeg Bl.3 a 4 SSC yn rheolaidd
- Cyfwelydd ar gyfer MMIs
Myfyrwyr Lleoliad Diwydiannol a B.Sc Rhyngweithiol
- 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 - 2:1
- 2023-2024: Lauren Revill - 2:1
Myfyrwyr MD
- 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
- 2026: Amy Houseman - 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, 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
[email protected]
+44 29 2251 5401
Adeilad Ymchwil Cardiofasgwlaidd Syr Geraint Evans, Ystafell 1/28, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN
+44 29 2251 5401
Adeilad Ymchwil Cardiofasgwlaidd Syr Geraint Evans, Ystafell 1/28, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN