Curriculum Vitae: Achille Iolascon : Specializzazione in Pediatria - Università di Napoli

Size: px
Start display at page:

Download "Curriculum Vitae: Achille Iolascon. 1978-81: Specializzazione in Pediatria - Università di Napoli"

Transcription

1 Curriculum Vitae: Achille Iolascon Ufficio Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università Federico II di Napoli, Italy. Studi : Laurea in Medicina e Chirurgia- Università di Napoli : Specializzazione in Pediatria - Università di Napoli : Specializzazione in Oncologia - Università di Napoli 1986: Dottorato di Ricerca in Scienze Pediatriche Post-graduate training: 1979: Medico Interno della Clinica Pediatrica- Università di Napoli : Assistente medico in Pediatria : Professore Associato di Terapia Pediatrica- Università di Bari : Professore Straordinario di Pediatria- Università di Foggia Professore Aggiunto del Dpt di Biologia dell Università Temple di Filadelfia Professore ordinario di Genetica Medica- Università Federico II di Napoli Carriera : Tutore di Studenti e specializzandi in Pediatrica- Università di Napoli Napoli Insegnamento di Patologia Generale presso la Scuola per Vigilatrici d'infanzia, Università di Professore di Terapia Pediatrica, Università di Bari Professore di Genetica Medica ( ), Università di Bari Professore Straordinario di Pediatria, Università di Foggia Professore Ordinario di Pediatria, Università di Foggia

2 Professore Ordinario di Genetica Medica, Università Federico II di Napoli Attività Assistenziale.: 1980 medico interno, Cl. Pediatrica, Università di Napoli pediatra, presso il Consultorio familiare, USL39, Napoli tecnico laureato, Università di Napoli Responsabile dell'unità di Patologia Molecolare delle Malattie Ereditarie dell'età Evolutiva, Dipartimento di Biomedicina dell'età Evolutiva, Un. Di Bari 2000: responsabile della Unità Operativa Universitaria di Pediatria presso gli Ospedali Riuniuti di Foggia 2004: attività Clinica di Genetica Medica, responsabile dell Area Funzionale di Genetica Medica dell Univ. Federico II di Napoli Risultati Scientifici Rilevanti Ematologia Pediatrica: analisi delle basi molecolari delle malattie emolitiche ereditarie. - Creazione del registro italiano della sferocitosi ereditarie e del Registro Internazionale delle Anemie Diseritropoietiche; chairman del gruppo di studio internazionale sulle anemie diseritropoietiche - Riconoscimento del deficit di trasportatore degli anioni (o banda 3) nella patogenesi della sferocitosi ereditaria - Riconoscimento delle de-novo mutations come una delle casue della sferocitosi recessiva

3 - Mappaggio e clonaggio del gene della Anemia Diseritropoietica congenita di tipo I e II e riconoscimento di un secondo locus malattia - Mappaggio ed identificazione dei geni della Stomatocitosi Ereditaria e della Pseudoiperkaliemia - Definizione delle basi molecolari dell ittero del neonato - Riconoscimento di una forma autosomica dominante di trombocitopenia; mappatura del gene di questa forma sul cromosoma 10 - Definizione delle Basi Molecolari del Crigler-Najjar in Italia ed in Europa - Definizione delle basi molecolari della stomatocitosi ereditarie e sui rapporti con il metabolismo lipidico - Identificazione dei geni di CDA-I, CDA-II, Stomatocitosi ereditaria deidrata, Pseudoiperkalemia familiare Oncologia: analisi delle basi molecolari del controllo del ciclo cellulare nelle neoplasie pediatriche - riconoscimento della delezione di p16 nelle leucemie infantili - riconoscimento del coinvolgimento di 1p32 nella T-ALL - shift del pattern di produzione delle cicline nell epatoblastoma - iperespressione di p15 nel neuroblastoma ed assenza di coinvolgimento di p16 - analisi del ruolo di p21 e p27 nei tumori infantili - analisi dei meccanismi di controllo di p27 - induzione della differenziazione in linee di tumori infantili mediante l'uso di analoghi del butirrato ed acido retinoico - analisi delle basi molecolari dell epatocarcinoma - profili di espressione e regolazione genica in tumori pediatrici del SNC - studio della predisposizione genetica al neuroblastoma

4 Il prof. Iolascon è autore di oltre 330 lavori editi a stampa nei più prodigiosi giornali di letteratura scientifica internazionali tra cui : Nature Genetics, Blood, Journal Medical Genetics ed altre. Fa parte del board Editoriale di : Hematologica, Jour. Of Hematology e Prospettive in Pediatria E Autore e coautore di 12 libri di Pediatria, di Ematologia e di un libro di Genetica Medica Elenco delle pubblicazioni PubMed al giugno 2013 ELENCO PUBBLICAZIONI SU PUBMED 250: De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. Iron refractory iron deficiency anemia. Haematologica 2013, 98 (6) : : Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood Mar 11. [Epub ahead of print] PubMed PMID: : Russo R, Langella C, Esposito MR, Gambale A, Vitiello F, Vallefuoco F, Ek T, Yang E, Iolascon A. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. Blood Cells Mol Dis Feb 28. doi:pii: S (13) /j.bcmd [Epub ahead of print] PubMed PMID:

5 247: Capasso M, Diskin SJ, Totaro F, Longo L, Mariano MD, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris JM, Iolascon A. Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis Mar;34(3): doi: /carcin/bgs380. Epub 2012 Dec 7. PubMed PMID: : Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol Jan;88(1): doi: /ajh Epub 2012 Nov 24. PubMed PMID: : Iolascon A, Esposito MR, Russo R. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. Haematologica Dec;97(12): doi: /haematol Epub 2012 Oct 12. PubMed PMID: ; PubMed Central PMCID: PMC : De Falco L, Bruno M, Andolfo I, David BP, Girelli D, Di Noce F, Camaschella C, Iolascon A. Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene. Br J Haematol Nov;159(4): doi: /bjh Epub 2012 Sep 27. PubMed PMID:

6 243: Diskin SJ, Capasso M, Schnepp RW, Cole KA, Attiyeh EF, Hou C, Diamond M, Carpenter EL, Winter C, Lee H, Jagannathan J, Latorre V, Iolascon A, Hakonarson H, Devoto M, Maris JM. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet Oct;44(10): doi: /ng Epub 2012 Sep 2. PubMed PMID: ; PubMed Central PMCID: PMC : Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, Dubuc A, Yao Y, Ramaswamy V, Luu B, Rolider A, Cavalli FM, Wang X, Remke M, Wu X, Chiu RY, Chu A, Chuah E, Corbett RD, Hoad GR, Jackman SD, Li Y, Lo A, Mungall KL, Nip KM, Qian JQ, Raymond AG, Thiessen NT, Varhol RJ, Birol I, Moore RA, Mungall AJ, Holt R, Kawauchi D, Roussel MF, Kool M, Jones DT, Witt H, Fernandez-L A, Kenney AM, Wechsler-Reya RJ, Dirks P, Aviv T, Grajkowska WA, Perek-Polnik M, Haberler CC, Delattre O, Reynaud SS, Doz FF, Pernet-Fattet SS, Cho BK, Kim SK, Wang KC, Scheurlen W, Eberhart CG, Fèvre-Montange M, Jouvet A, Pollack IF, Fan X, Muraszko KM, Gillespie GY, Di Rocco C, Massimi L, Michiels EM, Kloosterhof NK, French PJ, Kros JM, Olson JM, Ellenbogen RG, Zitterbart K, Kren L, Thompson RC, Cooper MK, Lach B, McLendon RE, Bigner DD, Fontebasso A, Albrecht S, Jabado N, Lindsey JC, Bailey S, Gupta N, Weiss WA, Bognár L, Klekner A, Van Meter TE, Kumabe T, Tominaga T, Elbabaa SK, Leonard JR, Rubin JB, Liau LM, Van Meir EG, Fouladi M, Nakamura H, Cinalli G, Garami M, Hauser P, Saad AG, Iolascon A, Jung S, Carlotti CG, Vibhakar R, Ra YS, Robinson S, Zollo M, Faria CC, Chan JA, Levy ML, Sorensen PH, Meyerson M, Pomeroy SL, Cho YJ, Bader GD, Tabori U, Hawkins CE, Bouffet E, Scherer SW, Rutka JT, Malkin D, Clifford SC,

7 Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature Aug 2;488(7409): doi: /nature PubMed PMID: : Russo R, Esposito MR, Iolascon A. Inherited hematological disorders due to defects in coat protein (COP)II complex. Am J Hematol Feb;88(2): doi: /ajh Epub 2012 Jul 5. PubMed PMID: : Geninatti Crich S, Cutrin JC, Lanzardo S, Conti L, Kálmán FK, Szabó I, Lago NR, Iolascon A, Aime S. Mn-loaded apoferritin: a highly sensitive MRI imaging probe for the detection and characterization of hepatocarcinoma lesions in a transgenic mouse model. Contrast Media Mol Imaging May-Jun;7(3): doi: /cmmi.492. PubMed PMID: : Andolfo I, Liguori L, De Antonellis P, Cusanelli E, Marinaro F, Pistollato F, Garzia L, De Vita G, Petrosino G, Accordi B, Migliorati R, Basso G, Iolascon A, Cinalli G, Zollo M. The micro-rna 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma. Neuro Oncol May;14(5): doi: /neuonc/nos002. Epub 2012 Mar 12. PubMed PMID: ; PubMed Central PMCID: PMC : Liguori L, Andolfo I, de Antonellis P, Aglio V, di Dato V, Marino N, Orlotti NI, De Martino D, Capasso M, Petrosino G, Schramm A, Navas L, Tonini GP, Eggert A, Iolascon A, Zollo M. The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma. Cell Cycle Feb 1;11(3): doi:

8 /cc Epub 2012 Feb 1. PubMed PMID: : Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis update. Br J Haematol Jan;156(1): doi: /j x. Epub 2011 Nov 5. PubMed PMID: : de Antonellis P, Medaglia C, Cusanelli E, Andolfo I, Liguori L, De Vita G, Carotenuto M, Bello A, Formiggini F, Galeone A, De Rosa G, Virgilio A, Scognamiglio I, Sciro M, Basso G, Schulte JH, Cinalli G, Iolascon A, Zollo M. MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastoma. PLoS One. 2011;6(9):e doi: /journal.pone Epub 2011 Sep 12. PubMed PMID: ; PubMed Central PMCID: PMC : Gigante M, Piemontese M, Gesualdo L, Iolascon A, Aucella F. Molecular and genetic basis of inherited nephrotic syndrome. Int J Nephrol. 2011;2011: doi: /2011/ Epub 2011 Sep 6. PubMed PMID: ; PubMed Central PMCID: PMC : Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A. Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. Am J Hematol Sep;86(9): doi: /ajh PubMed

9 PMID: ; PubMed Central PMCID: PMC : De Franceschi L, Bertoldi M, De Falco L, Santos Franco S, Ronzoni L, Turrini F, Colancecco A, Camaschella C, Cappellini MD, Iolascon A. Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in β-thalassemic erythropoiesis. Haematologica Nov;96(11): doi: /haematol Epub 2011 Jul 12. PubMed PMID: ; PubMed Central PMCID: PMC : Pezzolo A, Coco S, Raso A, Parodi F, Pistorio A, Valdora F, Capra V, Zollo M, Aschero S, Basso E, Cama A, Nozza P, Gambini C, Cinalli G, Garrè ML, Iolascon A, Pistoia V, Tonini GP. Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma. Cancer Lett Sep 28;308(2): doi: /j.canlet Epub 2011 Jun 8. PubMed PMID: : Piana C, Surh L, Furst-Recktenwald S, Iolascon A, Jacqz-Aigrain EM, Jonker I, Russo R, van Schaik RH, Wessels J, Della Pasqua OE. Integration of pharmacogenetics and pharmacogenomics in drug development: implications for regulatory and medical decision making in pediatric diseases. J Clin Pharmacol May;52(5): doi: / Epub 2011 May 12. Review. PubMed PMID: : Andolfo I, Petrosino G, Vecchione L, De Antonellis P, Capasso M, Montanaro D, Gemei M, Troncone G, Iolascon A, Orditura M, Ciardiello F, De Vita F, Zollo M.

10 Detection of erbb2 copy number variations in plasma of patients with esophageal carcinoma. BMC Cancer Apr 11;11:126. doi: / PubMed PMID: ; PubMed Central PMCID: PMC : Nguyen le B, Diskin SJ, Capasso M, Wang K, Diamond MA, Glessner J, Kim C, Attiyeh EF, Mosse YP, Cole K, Iolascon A, Devoto M, Hakonarson H, Li HK, Maris JM. Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS Genet Mar;7(3):e doi: /journal.pgen Epub 2011 Mar 17. PubMed PMID: ; PubMed Central PMCID: PMC : Iolascon A, Russo R, Delaunay J. Congenital dyserythropoietic anemias. Curr Opin Hematol May;18(3): doi: /MOH.0b013e b0. Review. PubMed PMID: : Coco S, Valdora F, Bonassi S, Scaruffi P, Stigliani S, Oberthuer A, Berthold F, Andolfo I, Servidei T, Riccardi R, Basso E, Iolascon A, Tonini GP. Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma. OMICS May;15(5): doi: /omi Epub 2011 Feb 24. PubMed PMID: : Iolascon A, Russo R, Esposito MR, Piscopo C, Asci R, De Falco L, Di Noce F. Congenital dyserythropoietic anaemias: new acquisitions. Blood Transfus Jul;9(3): doi: / Epub 2010 Dec 13. Review. PubMed

11 PMID: ; PubMed Central PMCID: PMC : Iolascon A, King MJ, Robertson S, Avvisati RA, Vitiello F, Asci R, Scoppettuolo MN, Delaunay J. A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis. Blood Cells Mol Dis Mar 15;46(3): doi: /j.bcmd Epub 2011 Jan 5. PubMed PMID: : Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM. Integrative genomics identifies LMO1 as a neuroblastoma oncogene. Nature Jan 13;469(7329): doi: /nature Epub 2010 Dec 1. PubMed PMID: ; PubMed Central PMCID: PMC : Garçon L, Iolascon A, Pissard S, Esposito MR, Russo R, Fenneteau O, Fénéant-Thibault M, Heimpel H, Delaunay J. A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(h8)leu Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain. Hemoglobin. 2010;34(6): doi: / PubMed PMID: : Russo R, Capasso M, Paolucci P, Iolascon A; TEDDY European Network of Excellence. Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives. Eur J Clin Pharmacol May;67 Suppl 1:17-27.

12 doi: /s Epub 2010 Nov 11. Review. PubMed PMID: : Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet Nov 12;87(5): doi: /j.ajhg Epub 2010 Nov 4. PubMed PMID: ; PubMed Central PMCID: PMC : Russo R, Esposito MR, Asci R, Gambale A, Perrotta S, Ramenghi U, Forni GL, Uygun V, Delaunay J, Iolascon A. Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol Dec;85(12): doi: /ajh PubMed PMID: ; PubMed Central PMCID: PMC : Heimpel H, Matuschek A, Ahmed M, Bader-Meunier B, Colita A, Delaunay J, Garcon L, Gilsanz F, Goede J, Högel J, Kohne E, Leichtle R, Munoz J, Perrotta S, Piscopo C, Renella R, Schwarz K, Smolenska-Sym G, Wickramasinghe S, Zanella A, Iolascon A. Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol Jul;85(1):20-5. PubMed PMID: : Iolascon A, Avvisati RA, Piscopo C. Hereditary spherocytosis. Transfus Clin Biol Sep;17(3): doi: /j.tracli Epub 2010 Jul 23. PubMed PMID:

13 217: Capasso M, Ayala F, Avvisati RA, Russo R, Gambale A, Mozzillo N, Ascierto PA, Iolascon A. MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. J Hum Genet Aug;55(8): doi: /jhg Epub 2010 Jun 10. PubMed PMID: : Andolfo I, De Falco L, Asci R, Russo R, Colucci S, Gorrese M, Zollo M, Iolascon A. Regulation of divalent metal transporter 1 (DMT1) non-ire isoform by the microrna Let-7d in erythroid cells. Haematologica Aug;95(8): doi: /haematol Epub 2010 Apr 21. PubMed PMID: ; PubMed Central PMCID: PMC : De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat May;31(5):E doi: /humu PubMed PMID: : Persico M, Iolascon A. Steatosis as a co-factor in chronic liver diseases. World J Gastroenterol Mar 14;16(10): Review. PubMed PMID: ; PubMed Central PMCID: PMC : Spano D, Russo R, Di Maso V, Rosso N, Terracciano LM, Roncalli M, Tornillo L, Capasso M, Tiribelli C, Iolascon A. Galectin-1 and its involvement in

14 hepatocellular carcinoma aggressiveness. Mol Med Mar;16(3-4): doi: /molmed Epub 2009 Dec 21. PubMed PMID: ; PubMed Central PMCID: PMC : Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Fénéant-Thibault M, Garçon L, Delaunay J. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica May;95(5): doi: /haematol Epub 2009 Dec 16. PubMed PMID: ; PubMed Central PMCID: PMC : Iolascon A, Russo R, Capasso M. [Pharmacogenomics and pharmacogenetics: individual genetic profile and pharmacological response]. Minerva Pediatr Dec;61(6): Italian. PubMed PMID: : Persico M, Russo R, Persico E, Svelto M, Spano D, Andolfo I, La Mura V, Capasso M, Tiribelli C, Torella R, Iolascon A. SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells. Clin Chem Lab Med. 2009;47(10): doi: /CCLM PubMed PMID: : Iolascon A, De Falco L. Mutations in the gene encoding DMT1: clinical presentation and treatment. Semin Hematol Oct;46(4): doi: /j.seminhematol Review. PubMed PMID:

15 208: Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L. A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis. Haematologica Aug;94(8): doi: /haematol PubMed PMID: ; PubMed Central PMCID: PMC : Perrotta S, Della Ragione F, Rossi F, Avvisati RA, Di Pinto D, De Mieri G, Scianguetta S, Mancusi S, De Falco L, Marano V, Iolascon A. Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. Haematologica Dec;94(12): doi: /haematol Epub 2009 Jul 16. PubMed PMID: ; PubMed Central PMCID: PMC : Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet Aug;41(8): doi: /ng.405. Epub 2009 Jun 28. PubMed PMID: : Capasso M, Ayala F, Russo R, Avvisati RA, Asci R, Iolascon A. A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mrna expression and shows a significant association with cutaneous melanoma in Southern Italian population. J Cancer Res Clin Oncol Dec;135(12): doi: /s y. Epub 2009 Jun 26. PubMed

16 PMID: : Iolascon A, Delaunay J. Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. Haematologica May;94(5): doi: /haematol PubMed PMID: ; PubMed Central PMCID: PMC : Cimmino F, Schulte JH, Zollo M, Koster J, Versteeg R, Iolascon A, Eggert A, Schramm A. Galectin-1 is a major effector of TrkB-mediated neuroblastoma aggressiveness. Oncogene May 14;28(19): doi: /onc Epub 2009 Apr 13. PubMed PMID: : Garzia L, Andolfo I, Cusanelli E, Marino N, Petrosino G, De Martino D, Esposito V, Galeone A, Navas L, Esposito S, Gargiulo S, Fattet S, Donofrio V, Cinalli G, Brunetti A, Vecchio LD, Northcott PA, Delattre O, Taylor MD, Iolascon A, Zollo M. MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma. PLoS One. 2009;4(3):e4998. doi: /journal.pone Epub 2009 Mar 24. PubMed PMID: ; PubMed Central PMCID: PMC : Iolascon A, De Falco L, Beaumont C. Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis. Haematologica Mar;94(3): doi: /haematol Epub 2009 Jan 30. Review. PubMed PMID: ; PubMed Central PMCID: PMC

17 200: De Franceschi L, Biondani A, Carta F, Turrini F, Laudanna C, Deana R, Brunati AM, Turretta L, Iolascon A, Perrotta S, Elson A, Bulato C, Brugnara C. PTPepsilon has a critical role in signaling transduction pathways and phosphoprotein network topology in red cells. Proteomics Nov;8(22): doi: /pmic PubMed PMID: ; PubMed Central PMCID: PMC : Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica Sep;93(9): doi: /haematol PubMed PMID: : Sinisi AA, Asci R, Bellastella G, Maione L, Esposito D, Elefante A, De Bellis A, Bellastella A, Iolascon A. Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. Hum Reprod Oct;23(10): doi: /humrep/den247. Epub 2008 Jul 1. PubMed PMID: : Iolascon A, Piscopo C, Boschetto L. Red cell membrane disorders in pediatrics. Pediatr Ann May;37(5): PubMed PMID: : Spano D, Cimmino F, Capasso M, D'Angelo F, Zambrano N, Terracciano L, Iolascon A. Changes of the hepatic proteome in hepatitis B-infected mouse model at early stages of fibrosis. J Proteome Res Jul;7(7): doi: /pr Epub 2008 May 22. PubMed PMID: : Paolucci P, Jones KP, del Carmen Cano Garcinuno M, Catapano M, Iolascon A,

18 Ceci A. Challenges in prescribing drugs for children with cancer. Lancet Oncol Feb;9(2): doi: /S (08) PubMed PMID: : Iolascon A, Camaschella C, Pospisilova D, Piscopo C, Tchernia G, Beaumont C. Natural history of recessive inheritance of DMT1 mutations. J Pediatr Jan;152(1): PubMed PMID: : Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat Mar;29(3): PubMed PMID: : Perretti A, Crispino G, Marcantonio L, Lenta S, Caropreso M, Manganelli F, Scianguetta S, Iorio R, Iolascon A, Vajro P. Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. Neuropediatrics Aug;38(4): PubMed PMID: : De Franceschi L, Ronzoni L, Cappellini MD, Cimmino F, Siciliano A, Alper SL, Servedio V, Pozzobon C, Iolascon A. K-CL co-transport plays an important role in normal and beta thalassemic erythropoiesis. Haematologica Oct;92(10): PubMed PMID: : Iolascon A, De Falco L, Boschetto L, Piscopo C, Pirolo C, Di Noce F. [New

19 types of microcytic anemia]. Minerva Pediatr Oct;59(5): Italian. PubMed PMID: : Garzia L, D'Angelo A, Amoresano A, Knauer SK, Cirulli C, Campanella C, Stauber RH, Steegborn C, Iolascon A, Zollo M. Phosphorylation of nm23-h1 by CKI induces its complex formation with h-prune and promotes cell motility. Oncogene Mar 20;27(13): Epub 2007 Oct 1. PubMed PMID: : Persico M, Capasso M, Russo R, Persico E, Crocè L, Tiribelli C, Iolascon A. Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C. Gut Apr;57(4): Epub 2007 Sep 19. PubMed PMID: : Krekels EH, van den Anker JN, Baiardi P, Cella M, Cheng KY, Gibb DM, Green H, Iolascon A, Jacqz-Aigrain EM, Knibbe CA, Santen GW, van Schaik RH, Tibboel D, Della Pasqua OE. Pharmacogenetics and paediatric drug development: issues and consequences to labelling and dosing recommendations. Expert Opin Pharmacother Aug;8(12): Review. PubMed PMID: : Persico M, Capasso M, Persico E, Svelto M, Russo R, Spano D, Crocè L, La Mura V, Moschella F, Masutti F, Torella R, Tiribelli C, Iolascon A. Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy. Hepatology Oct;46(4): PubMed PMID:

20 185: Cimmino F, Spano D, Capasso M, Zambrano N, Russo R, Zollo M, Iolascon A. Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line. J Proteome Res Jul;6(7): Epub 2007 Jun 9. PubMed PMID: : Camaschella C, Campanella A, De Falco L, Boschetto L, Merlini R, Silvestri L, Levi S, Iolascon A. The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood Aug 15;110(4): Epub 2007 May 7. PubMed PMID: : Zdebska E, Iolascon A, Spychalska J, Perrotta S, Lanzara C, Smolenska-Sym G, Koscielak J. Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. Haematologica Mar;92(3): PubMed PMID: : Capasso M, Avvisati RA, Piscopo C, Laforgia N, Raimondi F, de Angelis F, Iolascon A. Cytokine gene polymorphisms in Italian preterm infants: association between interleukin G/A polymorphism and respiratory distress syndrome. Pediatr Res Mar;61(3): PubMed PMID: : D'Apolito M, Marrone A, Servedio V, Vajro P, De Falco L, Iolascon A. Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia. Haematologica Jan;92(1): PubMed PMID:

21 180: Iolascon A, Aglio V, Tamma G, D'Apolito M, Addabbo F, Procino G, Simonetti MC, Montini G, Gesualdo L, Debler EW, Svelto M, Valenti G. Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. Nephron Physiol. 2007;105(3):p Epub 2006 Dec 28. PubMed PMID: : Caterino M, Ruoppolo M, Orrù S, Savoia M, Perrotta S, Del Vecchio L, Salvatore F, Stewart GW, Iolascon A. Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. FEBS Lett Dec 11;580(28-29): Epub 2006 Nov 7. PubMed PMID: : Persico M, Capasso M, Persico E, Masarone M, Renzo Ad, Spano D, Bruno S, Iolascon A. Interleukin GG polymorphism influences the occurrence and the clinical characteristics of hepatitis C virus infection. J Hepatol Dec;45(6): Epub 2006 Sep 22. PubMed PMID: : Barone M, Spano D, D'Apolito M, Centra M, Lasalandra C, Capasso M, Di Leo A, Volinia S, Arcelli D, Rosso N, Francavilla A, Tiribelli C, Iolascon A. Gene expression analysis in HBV transgenic mouse liver: a model to study early events related to hepatocarcinogenesis. Mol Med Apr-Jun;12(4-6): PubMed PMID: ; PubMed Central PMCID: PMC : Gigante M, Ranieri E, Cerullo G, Calabresi L, Iolascon A, Assmann G, Morrone L, Pisciotta L, Schena FP, Gesualdo L. LCAT deficiency: molecular and phenotypic

treatments) worked by killing cancerous cells using chemo or radiotherapy. While these techniques can

treatments) worked by killing cancerous cells using chemo or radiotherapy. While these techniques can Shristi Pandey Genomics and Medicine Winter 2011 Prof. Doug Brutlag Chronic Myeloid Leukemia: A look into how genomics is changing the way we treat Cancer. Until the late 1990s, nearly all treatment methods

More information

Victims Compensation Claim Status of All Pending Claims and Claims Decided Within the Last Three Years

Victims Compensation Claim Status of All Pending Claims and Claims Decided Within the Last Three Years Claim#:021914-174 Initials: J.T. Last4SSN: 6996 DOB: 5/3/1970 Crime Date: 4/30/2013 Status: Claim is currently under review. Decision expected within 7 days Claim#:041715-334 Initials: M.S. Last4SSN: 2957

More information

PART 3.3: MicroRNA and Cancer

PART 3.3: MicroRNA and Cancer BIBM 2010 Tutorial: Epigenomics and Cancer PART 3.3: MicroRNA and Cancer Dec 18, 2010 Sun Kim at Indiana University Outline of Part 3.3 Background on microrna Role of microrna in cancer MicroRNA pathway

More information

Breast cancer and the role of low penetrance alleles: a focus on ATM gene

Breast cancer and the role of low penetrance alleles: a focus on ATM gene Modena 18-19 novembre 2010 Breast cancer and the role of low penetrance alleles: a focus on ATM gene Dr. Laura La Paglia Breast Cancer genetic Other BC susceptibility genes TP53 PTEN STK11 CHEK2 BRCA1

More information

Title: Detection of erbb2 copy number variations in plasma of patients with esophageal carcinoma.

Title: Detection of erbb2 copy number variations in plasma of patients with esophageal carcinoma. Author's response to reviews Title: Detection of erbb2 copy number variations in plasma of patients with esophageal carcinoma. Authors: Immacolata Andolfo (andolfo@ceinge.unina.it) Giuseppe Petrosino (petrosino@ceinge.unina.it)

More information

MULTIPLE MYELOMA. Dr Malkit S Riyat. MBChB, FRCPath(UK) Consultant Haematologist

MULTIPLE MYELOMA. Dr Malkit S Riyat. MBChB, FRCPath(UK) Consultant Haematologist MULTIPLE MYELOMA Dr Malkit S Riyat MBChB, FRCPath(UK) Consultant Haematologist Multiple myeloma is an incurable malignancy that arises from postgerminal centre, somatically hypermutated B cells.

More information

Prof. Marcello Persico. SECONDA UNIVERSITÀ DEGLI STUDI DI NAPOLI Cattedra di Medicina Interna

Prof. Marcello Persico. SECONDA UNIVERSITÀ DEGLI STUDI DI NAPOLI Cattedra di Medicina Interna 9 11 Marzo 2011 III Sessione The New Era of Host-Related Genetic Markers in HCV disease and Treatment: SOCS SNP and response to antiviral treatment Prof. Marcello Persico SECONDA UNIVERSITÀ DEGLI STUDI

More information

Rapid HCP5 single-nucleotide polymorphism genotyping: a simple allele-specific PCR method for prediction of hypersensitivity reaction to Abacavir.

Rapid HCP5 single-nucleotide polymorphism genotyping: a simple allele-specific PCR method for prediction of hypersensitivity reaction to Abacavir. A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment. Walter Soria

More information

Evaluation of focal adhesions as new therapeutic targets in acute myeloid leukemia

Evaluation of focal adhesions as new therapeutic targets in acute myeloid leukemia Evaluation of focal adhesions as new therapeutic targets in acute myeloid leukemia Dr Jordi Sierra Gil IRHSP Institut de Recerca Hospital de la Santa Creu i Sant Pau Dr. Miguel Ángel Sanz Alonso Fundación

More information

LEUKEMIA LYMPHOMA MYELOMA Advances in Clinical Trials

LEUKEMIA LYMPHOMA MYELOMA Advances in Clinical Trials LEUKEMIA LYMPHOMA MYELOMA Advances in Clinical Trials OUR FOCUS ABOUT emerging treatments Presentation for: Judith E. Karp, MD Advancements for Acute Myelogenous Leukemia Supported by an unrestricted educational

More information

Publikationsliste Claudia Götz

Publikationsliste Claudia Götz Publikationsliste Claudia Götz 1. Reinhard,B., Götz, C., and Faillard, H.: Synthesis of N-Acetyl-9-Oacetylneuraminic acid α-p-aminophenylthioketoside and its application as ligand in the affinity chromatography

More information

Natalia Taborda Vanegas. Doc. Sci. Student Immunovirology Group Universidad de Antioquia

Natalia Taborda Vanegas. Doc. Sci. Student Immunovirology Group Universidad de Antioquia Pathogenesis of Dengue Natalia Taborda Vanegas Doc. Sci. Student Immunovirology Group Universidad de Antioquia Infection process Epidermis keratinocytes Dermis Archives of Medical Research 36 (2005) 425

More information

Contents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer

Contents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer Contents Introduction: biology and medicine, two separated compartments What we need to know: - boring basics in DNA/RNA structure and overview of particular aspects of molecular biology techniques - How

More information

Lucia Migliore. Transfer of recent evidences concerning genetic and epigenetic risk factors of complex diseases on clinical practice

Lucia Migliore. Transfer of recent evidences concerning genetic and epigenetic risk factors of complex diseases on clinical practice Lucia Migliore Transfer of recent evidences concerning genetic and epigenetic risk factors of complex diseases on clinical practice Dipartimento di Ricerca Traslazionale e Nuove Tecnologie in Medicina

More information

Genetic testing for Gilbert s syndrome: how useful is it in determining the cause of jaundice?

Genetic testing for Gilbert s syndrome: how useful is it in determining the cause of jaundice? Clinical Chemistry 44:8 1604 1609 (1998) Test Utilization and Outcomes Genetic testing for Gilbert s syndrome: how useful is it in determining the cause of jaundice? Aram S. Rudenski * and David J. Halsall

More information

Thrombophilia. Steven R. Lentz, M.D. Ph.D. Carver College of Medicine The University of Iowa May 2003

Thrombophilia. Steven R. Lentz, M.D. Ph.D. Carver College of Medicine The University of Iowa May 2003 Thrombophilia Steven R. Lentz, M.D. Ph.D. Carver College of Medicine The University of Iowa May 2003 Thrombophilia Hereditary and acquired risk factors for thrombosis Venous thromboembolism Arterial thromboembolism

More information

Hepatitis C Glossary of Terms

Hepatitis C Glossary of Terms Acute Hepatitis C A short-term illness that usually occurs within the first six months after someone is exposed to the hepatitis C virus (HCV). 1 Antibodies Proteins produced as part of the body s immune

More information

USI Master Policy Information

USI Master Policy Information Policy I.D. Gender A.B. (#327) M 86 United of Omaha $ 1,000,000.00 A.B. (#430) - (#436) M 86 Metlife $ 2,000,000.00 A.G. #1 (#371), (#610), (#624) M Conseco Life $ 3,125,000.00 10/Apr/10 A.G. #2 (#380),

More information

Gene mutation and molecular medicine Chapter 15

Gene mutation and molecular medicine Chapter 15 Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to

More information

Special report. Chronic Lymphocytic Leukemia (CLL) Genomic Biology 3020 April 20, 2006

Special report. Chronic Lymphocytic Leukemia (CLL) Genomic Biology 3020 April 20, 2006 Special report Chronic Lymphocytic Leukemia (CLL) Genomic Biology 3020 April 20, 2006 Gene And Protein The gene that causes the mutation is CCND1 and the protein NP_444284 The mutation deals with the cell

More information

Lecture 3: Mutations

Lecture 3: Mutations Lecture 3: Mutations Recall that the flow of information within a cell involves the transcription of DNA to mrna and the translation of mrna to protein. Recall also, that the flow of information between

More information

GRANIX (tbo-filgrastim)

GRANIX (tbo-filgrastim) RATIONALE FOR INCLUSION IN PA PROGRAM Background Neutropenia is a hematological disorder characterized by an abnormally low number of neutrophils. A person with severe neutropenia has an absolute neutrophil

More information

Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics

Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Session # : 46 Day/Time: Friday, May 1, 2015, 1:00 4:00 pm Title: Genetics and Hearing Loss: Clinical and Molecular Characteristics Presenter: Kathleen S. Arnos, PhD, Gallaudet University This presentation

More information

Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Biochemistry

Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Biochemistry Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Biochemistry The Master Degree in Medical Laboratory Sciences /Clinical Biochemistry, is awarded by the Faculty of Graduate Studies

More information

Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare

Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare Il percorso diagnostico del nodulo tiroideo: il ruolo dell analisi molecolare Maria Chiara Zatelli Sezione di Endocrinologia Direttore: Prof. Ettore degli Uberti Dipartimento di Scienze Mediche Università

More information

ITT Advanced Medical Technologies (Ileri Tip Teknolojileri)

ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) is a biotechnology company (SME) established in Turkey. Its activity area is research,

More information

Ariela Benigni. Biol.Sci.D., Ph.D. Curriculum Vitae

Ariela Benigni. Biol.Sci.D., Ph.D. Curriculum Vitae Ariela Benigni Biol.Sci.D., Ph.D. Curriculum Vitae Personal Data Name: Date and place of birth: Citizenship: E-mail: Ariela Benigni December 16, 1955 - Bergamo, Italy Italian ariela.benigni@marionegri.it

More information

The Need for a PARP in vivo Pharmacodynamic Assay

The Need for a PARP in vivo Pharmacodynamic Assay The Need for a PARP in vivo Pharmacodynamic Assay Jay George, Ph.D., Chief Scientific Officer, Trevigen, Inc., Gaithersburg, MD For further infomation, please contact: William Booth, Ph.D. Tel: +44 (0)1235

More information

Curriculum Vitae. Education: Italian Degree of Doctor in Biology, 1972, University of L Aquila (Italy)

Curriculum Vitae. Education: Italian Degree of Doctor in Biology, 1972, University of L Aquila (Italy) Curriculum Vitae Name: Pasquale Battista Date and place of birth: 17 st October 1949, Pescara, ITALY Nationality: ITALIAN Married, 1 daughter Official address, phone and fax numbers: G. d Annunzio University

More information

Differential Diagnosis of NAFLD- A Short Summary:

Differential Diagnosis of NAFLD- A Short Summary: Differential Diagnosis of NAFLD- A Short Summary: Almost a fifth of our general pediatric population is now classified as overweight in the United States. When such children present with elevated liver

More information

School-age child 5-1 THE BLOOD

School-age child 5-1 THE BLOOD C A S E S T U D Y 5 : School-age child Adapted from Thomson Delmar Learning s Case Study Series: Pediatrics, by Bonita E. Broyles, RN, BSN, MA, PhD. Copyright 2006 Thomson Delmar Learning, Clifton Park,

More information

2.1.2 Characterization of antiviral effect of cytokine expression on HBV replication in transduced mouse hepatocytes line

2.1.2 Characterization of antiviral effect of cytokine expression on HBV replication in transduced mouse hepatocytes line i 1 INTRODUCTION 1.1 Human Hepatitis B virus (HBV) 1 1.1.1 Pathogenesis of Hepatitis B 1 1.1.2 Genome organization of HBV 3 1.1.3 Structure of HBV virion 5 1.1.4 HBV life cycle 5 1.1.5 Experimental models

More information

1.- L a m e j o r o p c ió n e s c l o na r e l d i s co ( s e e x p li c a r á d es p u é s ).

1.- L a m e j o r o p c ió n e s c l o na r e l d i s co ( s e e x p li c a r á d es p u é s ). PROCEDIMIENTO DE RECUPERACION Y COPIAS DE SEGURIDAD DEL CORTAFUEGOS LINUX P ar a p od e r re c u p e ra r nu e s t r o c o rt a f u e go s an t e un d es a s t r e ( r ot u r a d e l di s c o o d e l a

More information

FARMACI PERSONALIZZATI PER

FARMACI PERSONALIZZATI PER ISTITUTO NAZIONALE PER LO STUDIO E LA CURA DEI TUMORI FONDAZIONE G. Pascale NAPOLI SC Biologia Cellulare e Bioterapie CENTRO RICERCHE ONCOLOGICHE MERCOGLIANO (AV) Laboratorio di Farmacogenomica FARMACI

More information

CURRICULUM VITAE ROBERTO GIACOMELLI MD, PhD

CURRICULUM VITAE ROBERTO GIACOMELLI MD, PhD CURRICULUM VITAE ROBERTO GIACOMELLI MD, PhD NAME Roberto Giacomelli TITLE Full Professor of Rheumatology, University of L Aquila, School of Medicine, L Aquila, Italy NATIONALITY Italian ADDRESS Permanent:

More information

Autoimmunity and immunemediated. FOCiS. Lecture outline

Autoimmunity and immunemediated. FOCiS. Lecture outline 1 Autoimmunity and immunemediated inflammatory diseases Abul K. Abbas, MD UCSF FOCiS 2 Lecture outline Pathogenesis of autoimmunity: why selftolerance fails Genetics of autoimmune diseases Therapeutic

More information

Genetic Testing in Research & Healthcare

Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes

More information

4.1 3T12 and 312 are immortalized cell lines with transforming potential:

4.1 3T12 and 312 are immortalized cell lines with transforming potential: DISCUSSION CHAPTER 4 4.1 3T12 and 312 are immortalized cell lines with transforming potential: Transformation of a normal cell with finite number of divisions into a tumorigenic cell of potentially infinite

More information

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur

More information

Validation and Replication

Validation and Replication Validation and Replication Overview Definitions of validation and replication Difficulties and limitations Working examples from our group and others Why? False positive results still occur. even after

More information

Guidelines for the Diagnosis and Management of Hereditary Spherocytosis

Guidelines for the Diagnosis and Management of Hereditary Spherocytosis Guidelines for the Diagnosis and Management of Hereditary Spherocytosis The British Committee for Standards in Haematology Address for correspondence: Dr. Paula Bolton-Maggs c/o BCSH Administrator British

More information

Interesting Case Review. Renuka Agrawal, MD Dept. of Pathology City of Hope National Medical Center Duarte, CA

Interesting Case Review. Renuka Agrawal, MD Dept. of Pathology City of Hope National Medical Center Duarte, CA Interesting Case Review Renuka Agrawal, MD Dept. of Pathology City of Hope National Medical Center Duarte, CA History 63 y/o male with h/o CLL for 10 years Presents with worsening renal function and hypercalcemia

More information

Rilevanza dell innovazione tecnologica per la

Rilevanza dell innovazione tecnologica per la Rilevanza dell innovazione tecnologica per la ricerca traslazionale e la terapia in oncologia Ruggero De Maria Dipartimento di Ematologia Oncologia e Medicina Molecolare, Istituto Superiore di Sanità Translational

More information

Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Microbiology, Immunology and Serology

Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Microbiology, Immunology and Serology Course Curriculum for Master Degree in Medical Laboratory Sciences/Clinical Microbiology, Immunology and Serology The Master Degree in Medical Laboratory Sciences / Clinical Microbiology, Immunology or

More information

RDW-- Interpreting the Full Blood Count

RDW-- Interpreting the Full Blood Count RDW-- Interpreting the Full Blood Count The most important components of a Full Blood Count report are, of course, the Haemoglobin, the White Cell Count and Differential and the Platelet Count. However,

More information

Hb A distribution in cord blood

Hb A distribution in cord blood 2 ND European Hemoglobinopathy Forum: Insights on the Diagnosis of Hemoglobin disorders November 29th, 2011 Madrid Hb A distribution in cord blood (normal vs β + or β o thalassemia carriers) Giovanni Ivaldi

More information

Relative Risk (Sokal & Hasford): Relationship with Treatment Results. Michele Baccarani

Relative Risk (Sokal & Hasford): Relationship with Treatment Results. Michele Baccarani Relative Risk (Sokal & Hasford): Relationship with Treatment Results Michele Baccarani European LeukemiaNet EVOLVING CONCEPTS IN THE MANAGEMENT OF CHRONIC MYELOID LEUKEMIA VENICE 8 9 MAY 2006 Disease risk

More information

VIRUSES AND CANCER. Michael Lea

VIRUSES AND CANCER. Michael Lea VIRUSES AND CANCER 2012 Michael Lea VIRAL ONCOLOGY - LECTURE OUTLINE 1. Historical Review 2. Viruses Associated with Cancer 3. RNA Tumor Viruses 4. DNA Tumor Viruses HISTORICAL REVIEW Historical Review

More information

Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation

Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation Dr Ros Ganderton, Ms Kate Parratt, Dr Debbie Richardson, Dr Kim Orchard and Dr Liz Hodges Departments of Molecular Pathology

More information

The National Institute of Genomic Medicine (INMEGEN) was

The National Institute of Genomic Medicine (INMEGEN) was Genome is...... the complete set of genetic information contained within all of the chromosomes of an organism. It defines the particular phenotype of an individual. What is Genomics? The study of the

More information

DOCTORAL SCHOOL IN SCIENCES OF REPRODUCTION

DOCTORAL SCHOOL IN SCIENCES OF REPRODUCTION DOCTORAL SCHOOL IN SCIENCES OF REPRODUCTION LAST REVISED 21/11/2011 SUBJECT AREAS COVERED BY THE SCHOOL: - other areas: MED/03, MED/39,MED/40, MED/47, M-Ped/01, M-Psi/04 ORGANIZING DEPARTMENT: Dipartimento

More information

HCC: Risk factors, surveillance and the importance of a multidisciplinary team

HCC: Risk factors, surveillance and the importance of a multidisciplinary team HCC: Risk factors, surveillance and the importance of a multidisciplinary team Anjana Pillai MD Assistant Professor of Medicine Director, Emory University Hospital Liver Tumor Clinic Division of Digestive

More information

Complex Systems BioMedicine: Molecules, Signals, Networks, Diseases

Complex Systems BioMedicine: Molecules, Signals, Networks, Diseases The International School of Advanced Molecular BioMedicine Complex Systems BioMedicine: Molecules, Signals, Networks, Diseases AciTrezza (Catania), Italy, October 2nd-6th, 2009 Hieronymus Bosch: Garden

More information

plaque reduction assay, modified dye uptake assay including formazan test, dye uptake assay

plaque reduction assay, modified dye uptake assay including formazan test, dye uptake assay Sauerbrei A, Bohn-Wippert K, Kaspar M, Krumbholz A, Karrasch M, Zell R. 2015. Database on natural polymorphisms and resistance-related non-synonymous mutations in thymidine kinase and DNA polymerase genes

More information

Dal germinale al somatico nella identificazione di tumori ereditari

Dal germinale al somatico nella identificazione di tumori ereditari Modena 18-19 novembre 2010 Dal germinale al somatico nella identificazione di tumori ereditari Laura Ottini Tendencies to develop cancer can be inherited Fletcher & Houlston, 2010 Cancer is a genetic disease

More information

Chapter 5: Organization and Expression of Immunoglobulin Genes

Chapter 5: Organization and Expression of Immunoglobulin Genes Chapter 5: Organization and Expression of Immunoglobulin Genes I. Genetic Model Compatible with Ig Structure A. Two models for Ab structure diversity 1. Germ-line theory: maintained that the genome contributed

More information

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia INTRODUCTION Thrombophilia (Hypercoagulability) is a condition in which a person forms blood clots more than normal. Blood clots may occur in the arms or legs (e.g., deep vein thrombosis DVT), the lungs

More information

Control of Gene Expression

Control of Gene Expression Control of Gene Expression What is Gene Expression? Gene expression is the process by which informa9on from a gene is used in the synthesis of a func9onal gene product. What is Gene Expression? Figure

More information

N-ACETYLCYSTEINE (NAC): A PHASE 1/2 TRIAL IN FANCONI ANEMIA. Rabindra Tirouvanziam, PhD Department of Pediatrics, Emory University Atlanta, GA, USA

N-ACETYLCYSTEINE (NAC): A PHASE 1/2 TRIAL IN FANCONI ANEMIA. Rabindra Tirouvanziam, PhD Department of Pediatrics, Emory University Atlanta, GA, USA N-ACETYLCYSTEINE (NAC): A PHASE 1/2 TRIAL IN FANCONI ANEMIA Rabindra Tirouvanziam, PhD Department of Pediatrics, Emory University Atlanta, GA, USA 22 nd Annual FA Family Meeting - July 2, 2013 Investigative

More information

Molecular Genetic Testing in Public Health and Clinical Settings

Molecular Genetic Testing in Public Health and Clinical Settings Molecular Genetic Testing in Public Health and Clinical Settings Ira M. Lubin, PhD, FACMG Division of Laboratory Systems NCPDCID, CCID Centers for Disease Control and Prevention Atlanta, Georgia Disclaimers

More information

Association between Dopamine Gene and Alcoholism in Pategar Community of Dharwad, Karnataka

Association between Dopamine Gene and Alcoholism in Pategar Community of Dharwad, Karnataka International Journal of Scientific and Research Publications, Volume 3, Issue 10, October 2013 1 Association between Dopamine Gene and Alcoholism in Pategar Community of Dharwad, Karnataka SOMASHEKHAR

More information

Careers in Haematology

Careers in Haematology Careers in Haematology A Guide for Medical Students and Junior Doctors Haematology is the medical speciality concerned with blood disorders. Your non-medical friends however will always think that you

More information

Antibody Function & Structure

Antibody Function & Structure Antibody Function & Structure Specifically bind to antigens in both the recognition phase (cellular receptors) and during the effector phase (synthesis and secretion) of humoral immunity Serology: the

More information

Diabetes and Insulin Signaling

Diabetes and Insulin Signaling Diabetes and Insulin Signaling NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE by Kristy J. Wilson School of Mathematics and Sciences Marian University, Indianapolis, IN Part I Research Orientation

More information

UNDERSTANDING MULTIPLE MYELOMA AND LABORATORY VALUES Benjamin Parsons, DO bmparson@gundersenhealth.org Gundersen Health System Center for Cancer and

UNDERSTANDING MULTIPLE MYELOMA AND LABORATORY VALUES Benjamin Parsons, DO bmparson@gundersenhealth.org Gundersen Health System Center for Cancer and UNDERSTANDING MULTIPLE MYELOMA AND LABORATORY VALUES Benjamin Parsons, DO bmparson@gundersenhealth.org Gundersen Health System Center for Cancer and Blood Disorders La Crosse, WI UNDERSTANDING MULTIPLE

More information

I.O. PhD International Research Program. Diego Gazzolo MD, PhD Dept. of Maternal Fetal and Neonatal Medicine Alessandria Children s Hospital, Italy

I.O. PhD International Research Program. Diego Gazzolo MD, PhD Dept. of Maternal Fetal and Neonatal Medicine Alessandria Children s Hospital, Italy I.O. PhD International Research Program Diego Gazzolo MD, PhD Dept. of Maternal Fetal and Neonatal Medicine Alessandria Children s Hospital, Italy I.O. PhD Program Prof. F. van Bel, MD, PhD Direttore Unità

More information

Acute Myeloid Leukemia- How can we fix it?

Acute Myeloid Leukemia- How can we fix it? Acute Myeloid Leukemia- ow can we fix it? Jeffrey W. Taub, M.D. Division of ematology/ncology Children s ospital of Michigan Wayne State University School of Medicine Detroit, Michigan Proliferation of

More information

INTRODUCTION % Cells of Control % Cells of Control % Cells of Control A B Rapamycin 24 Hour 48 Hour MS-275 24 Hour 48 Hour 120.000 120.000 100.000 100.000 80.000 80.000 60.000 60.000 40.000 40.000

More information

FastTest. You ve read the book... ... now test yourself

FastTest. You ve read the book... ... now test yourself FastTest You ve read the book...... now test yourself To ensure you have learned the key points that will improve your patient care, read the authors questions below. Please refer back to relevant sections

More information

An overview of CLL care and treatment. Dr Dean Smith Haematology Consultant City Hospital Nottingham

An overview of CLL care and treatment. Dr Dean Smith Haematology Consultant City Hospital Nottingham An overview of CLL care and treatment Dr Dean Smith Haematology Consultant City Hospital Nottingham What is CLL? CLL (Chronic Lymphocytic Leukaemia) is a type of cancer in which the bone marrow makes too

More information

Shaji Kumar, M.D. Multiple Myeloma: Multiple myeloma (MM) is the second most common hematological

Shaji Kumar, M.D. Multiple Myeloma: Multiple myeloma (MM) is the second most common hematological An update on the management of multiple myeloma and amyloidosis Shaji Kumar, M.D. Multiple Myeloma: Multiple myeloma (MM) is the second most common hematological malignancy in this country affecting nearly

More information

Genetic Mutations Cause Many Birth Defects:

Genetic Mutations Cause Many Birth Defects: Genetic Mutations Cause Many Birth Defects: What We Learned from the FORGE Canada Project Jan M. Friedman, MD, PhD University it of British Columbia Vancouver, Canada I have no conflicts of interest related

More information

Proposta di studio multicentrico A.I.S.F. Genetica della PBC e PSC

Proposta di studio multicentrico A.I.S.F. Genetica della PBC e PSC Proposta di studio multicentrico A.I.S.F. Genetica della PBC e PSC Coordinatore Pietro Invernizzi A.I.S.F., Rome, 25 February 2011 STUDY 1 Primary biliary cirrhosis Identification of common and uncommon

More information

Hydroxycarbamide: Mode of action. Jacques Elion, MD, PhD

Hydroxycarbamide: Mode of action. Jacques Elion, MD, PhD Hydroxycarbamide: Mode of action Jacques Elion, MD, PhD jacques.elion@inserm.fr National Reference Centers for Sickle Cell Disease Department of Medical Genetics and UMR 665 Robert Debré University Hospital,

More information

Farmacologia degli inibitori TK e mtor

Farmacologia degli inibitori TK e mtor Farmacologia degli inibitori TK e mtor Romano Danesi Professore ordinario di Farmacologia UOC Farmacologia Universitaria Azienda Ospedaliero-Universitaria Pisana Dipartimento di Medicina Interna Università

More information

Estimated New Cases of Leukemia, Lymphoma, Myeloma 2014

Estimated New Cases of Leukemia, Lymphoma, Myeloma 2014 ABOUT BLOOD CANCERS Leukemia, Hodgkin lymphoma (HL), non-hodgkin lymphoma (NHL), myeloma, myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPNs) are types of cancer that can affect the

More information

Specific Standards of Accreditation for Residency Programs in Pediatric Hematology/Oncology

Specific Standards of Accreditation for Residency Programs in Pediatric Hematology/Oncology Specific Standards of Accreditation for Residency Programs in Pediatric Hematology/Oncology INTRODUCTION 2009 A university wishing to have an accredited program in Pediatric Hematology/Oncology must also

More information

Saving Your Baby s Cord Blood

Saving Your Baby s Cord Blood Saving Your Baby s Cord Blood An Important Pregnancy Decision 1-888-CORD BLOOD HEALTHY FUTURES ARE Born at CBR For every parent who wishes they could do more to protect their family s health, there s Cord

More information

Appendix 2 Molecular Biology Core Curriculum. Websites and Other Resources

Appendix 2 Molecular Biology Core Curriculum. Websites and Other Resources Appendix 2 Molecular Biology Core Curriculum Websites and Other Resources Chapter 1 - The Molecular Basis of Cancer 1. Inside Cancer http://www.insidecancer.org/ From the Dolan DNA Learning Center Cold

More information

Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers

Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers J. Appl. Genet. 44(3), 2003, pp. 419-423 Short communication Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers Bohdan GÓRSKI,

More information

Mechanisms of Interferon-associated Bone Marrow Suppression with or without Ribavirin. K. Zhdanov

Mechanisms of Interferon-associated Bone Marrow Suppression with or without Ribavirin. K. Zhdanov EASL endorsed conference White Nights of Hepatology 2012 Adverse events during antiviral therapy: how to predict, manage and monitor June 7-8 Saint-Petersburg Mechanisms of Interferon-associated Bone Marrow

More information

Cancer Immunotherapy: Can Your Immune System Cure Cancer? Steve Emerson, MD, PhD Herbert Irving Comprehensive Cancer Center

Cancer Immunotherapy: Can Your Immune System Cure Cancer? Steve Emerson, MD, PhD Herbert Irving Comprehensive Cancer Center Cancer Immunotherapy: Can Your Immune System Cure Cancer? Steve Emerson, MD, PhD Herbert Irving Comprehensive Cancer Center Bodnar s Law Simple Things are Important Very Simple Things are Very Important

More information

Emerging New Prognostic Scoring Systems in Myelodysplastic Syndromes 2012

Emerging New Prognostic Scoring Systems in Myelodysplastic Syndromes 2012 Emerging New Prognostic Scoring Systems in Myelodysplastic Syndromes 2012 Arjan A. van de Loosdrecht, MD, PhD Department of Hematology VU University Medical Center VU-Institute of Cancer and Immunology

More information

NOVEL PLATFORMS FOR CANCER DIAGNOSIS

NOVEL PLATFORMS FOR CANCER DIAGNOSIS NOVEL PLATFORMS FOR CANCER DIAGNOSIS Luca Beneduce, Ph.D. Founded in 2001 and headquartered in Venice (Italy) Xeptagen is a privately held biotech company funded by venture capital. Xeptagen s mission

More information

Targeted Therapy What the Surgeon Needs to Know

Targeted Therapy What the Surgeon Needs to Know Targeted Therapy What the Surgeon Needs to Know AATS Focus in Thoracic Surgery 2014 David R. Jones, M.D. Professor & Chief, Thoracic Surgery Memorial Sloan Kettering Cancer Center I have no disclosures

More information

Support Program for Improving Graduate School Education Advanced Education Program for Integrated Clinical, Basic and Social Medicine

Support Program for Improving Graduate School Education Advanced Education Program for Integrated Clinical, Basic and Social Medicine Support Program for Improving Graduate School Education Advanced Education Program for Integrated Clinical, Basic and Social Medicine January 27, 2009 Dear Professors (representative) of departments, Subject:

More information

THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH

THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH THE EUKARYOTIC CELL CYCLE AND CANCER: IN DEPTH ABOUT THIS WORKSHEET This worksheet complements the Click and Learn The Eukaryotic Cell Cycle and Cancer and is intended as an in-depth examination of the

More information

INSERM/ A. Bernheim. Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance

INSERM/ A. Bernheim. Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance A. Bernheim Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance OVER-MyR is funded by the European Commission within its FP7 specific

More information

Genomes and SNPs in Malaria and Sickle Cell Anemia

Genomes and SNPs in Malaria and Sickle Cell Anemia Genomes and SNPs in Malaria and Sickle Cell Anemia Introduction to Genome Browsing with Ensembl Ensembl The vast amount of information in biological databases today demands a way of organising and accessing

More information

Antioxidant response in patients with chronic hepatitis B or C.

Antioxidant response in patients with chronic hepatitis B or C. Antioxidant response in patients with chronic hepatitis B or C. Kamila Wójcik, Anna Piekarska, Elżbieta Jabłonowska Department of Infectious Diseases and Hepatology, Medical University of Lodz, Poland

More information

CURRICULUM VITAE ALEJANDRO BEST ROCHA, M.D. alejandro.best-rocha@nephropath.com; alejandro.best@gmail.com

CURRICULUM VITAE ALEJANDRO BEST ROCHA, M.D. alejandro.best-rocha@nephropath.com; alejandro.best@gmail.com ALEJANDRO BEST ROCHA, M.D. CURRICULUM VITAE PAGE 1 PERSONAL INFORMATION Date of Birth: April 23, 1982 Place of Birth: San Diego, CA Marital Status: Married to Karla A. Allala (2012) Home address: 11900

More information

Diagnostic Detectives: Medical Laboratory Professionals. A Closer Look at Careers in Clinical Laboratory Science (Medical Technology)

Diagnostic Detectives: Medical Laboratory Professionals. A Closer Look at Careers in Clinical Laboratory Science (Medical Technology) Diagnostic Detectives: Medical Laboratory Professionals A Closer Look at Careers in Clinical Laboratory Science (Medical Technology) Medical Laboratory Facts A behind-the the-scenes, highly skilled team

More information

Malignant Lymphomas and Plasma Cell Myeloma

Malignant Lymphomas and Plasma Cell Myeloma Malignant Lymphomas and Plasma Cell Myeloma Dr. Bruce F. Burns Dept. of Pathology and Lab Medicine Overview definitions - lymphoma lymphoproliferative disorder plasma cell myeloma pathogenesis - translocations

More information

Version 1 2015. Module guide. Preliminary document. International Master Program Cardiovascular Science University of Göttingen

Version 1 2015. Module guide. Preliminary document. International Master Program Cardiovascular Science University of Göttingen Version 1 2015 Module guide International Master Program Cardiovascular Science University of Göttingen Part 1 Theoretical modules Synopsis The Master program Cardiovascular Science contains four theoretical

More information

Diagnosis of acquired Aplastic Anemia and PNH

Diagnosis of acquired Aplastic Anemia and PNH 1 Diagnosis of acquired Aplastic Anemia and PNH Alicia Rovó MD 2 Aplastic Anemia Diagnosis Can be difficult due to overlapping with other entities in particular bone marrow failures Neil Young et al. Blood,

More information

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia INTRODUCTION Thrombophilia (Hypercoagulability) is a condition in which a person forms blood clots more than normal. Blood clots may occur in the arms or legs (e.g., deep vein thrombosis DVT), the lungs

More information

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE AP Biology Date SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE LEARNING OBJECTIVES Students will gain an appreciation of the physical effects of sickle cell anemia, its prevalence in the population,

More information

Fulfilling the Promise

Fulfilling the Promise Fulfilling the Promise Advancing the Fight Against Cancer: America s Medical Schools and Teaching Hospitals For more than a century, the nation s medical schools and teaching hospitals have worked to understand,

More information

The EGFR mutation and precision therapy for lung cancer

The EGFR mutation and precision therapy for lung cancer for lung cancer Outcomes in advanced lung cancer have seen meaningful improvement in the past decade thanks to new precision drug therapies. Because tumors usually develop resistance to the drugs, scientists

More information

Genetics Lecture Notes 7.03 2005. Lectures 1 2

Genetics Lecture Notes 7.03 2005. Lectures 1 2 Genetics Lecture Notes 7.03 2005 Lectures 1 2 Lecture 1 We will begin this course with the question: What is a gene? This question will take us four lectures to answer because there are actually several

More information