Novel Genomic Patterns of Metabolic Remodeling in Acute Myeloid Leukemia

Novel Genomic Patterns of Metabolic Remodeling in Acute Myeloid LeukemiaMetabolic remodeling of cancer is controlled by metabolic enzymes having oncogenic or tumor suppressor functions, dysregulated metabolic pathways contribute to the pathogenesis of Acute Myeloid Leukemia. Autori: Giorgia Simonetti, Antonella Padella, Ítalo Faria do Valle, Gabriele Fontanarosa, Elisa Zago, Marianna Garonzi, Cristina Papayannidis, Maria Chiara Abbenante, Giovanni Marconi, Viviana Guadagnuolo, Maria Chiara Fontana, Samantha Bruno, Anna Ferrari, Elisa Zuffa, Eugenia Franchini,…

RNA Sequencing Reveals Novel and Rare Fusion Transcripts in Acute Myeloid Leukemia

RNA Sequencing Reveals Novel and Rare Fusion Transcripts in Acute Myeloid LeukemiaChromosomal rearrangements and fusion genes have a crucial diagnostic, prognostic and therapeutic role in Acute Myeloid Leukemia. Autori: Antonella Padella, Giorgia Simonetti, Giulia Paciello, Anna Ferrari, Elisa Zago, Carmen Baldazzi, Viviana Guadagnuolo, Cristina Papayannidis, Valentina Robustelli, Enrica Imbrogno, Nicoletta Testoni, Gerardo Musuraca, Simona Soverini, Massimo Delledonne, Ilaria Iacobucci, Clelia Tiziana Storlazzi, Elisa Ficarra and Giovanni Martinelli; Blood2015 126:3627. Acute Myeloid Leukemia (AML) is a highly heterogeneous…

Abstract 3957: Integrated molecular characterization of mast cell leukemia reveals recurrent inactivation of the SETD2 tumor suppressor gene

Abstract 3957: Integrated molecular characterization of mast cell leukemia reveals recurrent inactivation of the SETD2 tumor suppressor geneAmong the mutated genes detected in mast cells, SETD2 is different because two mutations inactivating both alleles of the gene were identified. Autori: Simona Soverini et al Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. Molecular…

European Society of Human Genetics (ESHG)

European Society of Human Genetics (ESHG)European Human Genetics Conference. La conferenza Europea di Genetica Umana si svolgerà quest’anno a Gothenburg (Svezia), il 15 – 18 giugno 2019. Verranno trattati tutti i temi delle più recenti tecniche diagnostiche di genetica molecolare. Il team di Personal Genomics sarà presente a tale convegno allo scopo di acquisire e…

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.Genetic testing is often based on the assessment of small panels of variants or genes. Autori: Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M. PLoS One. 2015 Jul 6;10(7):e0132180. Continuous improvements in the speed and…

Decreased epigenetic age of PBMCs from Italian semi-supercentenarians and their offspring

Decreased epigenetic age of PBMCs from Italian semi-supercentenarians and their offspring.Importance to understand the genetic of healthy ageing. Autori: Horvath S, Pirazzini C, Bacalini MG, Gentilini D, Di Blasio AM, Delledonne M, Mari D, Arosio B, Monti D, Passarino G, De Rango F, D’Aquila P, Giuliani C, Marasco E, Collino S, Descombes P, Garagnani P, Franceschi C. Aging (Albany NY). 2015 Dec;7(12):1159-70. Semi-supercentenarians (subjects who reached an age of 105-109 years) arguably represent…

Società Italiana di Genetica Umana (SIGU)

Società Italiana di Genetica Umana (SIGU)Società Italiana di Genetica Umana. La SIGU è la struttura di riferimento per problemi di interesse scientifico e sanitario concernenti la Genetica Umana. La SIGU elabora criteri di qualità per i laboratori di Genetica Medica operanti nell’ambito delle strutture sanitarie pubbliche e private, contribuendo alla elaborazione di linee guida nell’ambito…

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencingThis study was supported in part by Ricerca Corrente 2012?2015 from the Italian Ministry of Health. Autori: Gagliardi S, Ricca I, Ferrarini A, Valente M, Grieco GS, Piccolo G, Alfonsi E, Delledonne M, Cereda C. Br J. Dermatol. 2017 Jul;177(1):284-286.…

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data.Detecting somatic mutations for profiling cancer development and chemotherapy resistance. Autori: do Valle ÍF, Giampieri E, Simonetti G, Padella A, Manfrini M, Ferrari A, Papayannidis C, Zironi I, Garonzi M, Bernardi S, Delledonne M, Martinelli G, Remondini D, Castellani G. BMC Bioinformatics. 2016 Nov 8;17(Suppl 12):341. We aimed to develop…

European Society of Human Genetics (ESHG)

European Society of Human Genetics (ESHG).European Human Genetics Conference. La conferenza Europea di Genetica Umana si è svolta quest’anno in collaborazione con il meeting sugli aspetti psicosociali della genetica, a Milano, il 16-19 giugno 2018. Personal Genomics era presente al Congresso con il Professor Massimo Delledonne; temi trattati: diagnosi prenatale e analisi genetica con sequenziamento…