Biobanca di celllule e DNA da pazienti affetti da malattie genetiche
- 3 Anni 2005/2008
- 140.000€ Totale Fondi
La disponibilita' di campioni conservati rappresenta la fonte primaria per studi multidisciplinari che permettono possibili traguardi che sono alla base della diagnosi, della prevenzione e della messa a punto di protocolli terapeutici per malattie ancora incurabili. La collezione “Biobanca di cellule e DNA da pazienti affetti da malattie genetiche”, situata presso il Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche dellIstituto G. Gaslini, e' attiva dal 1976 e in questi anni e' stata intensivamente utilizzata da ricercatori nazionali ed internazionali. Attualmente comprende circa 4000 campioni (fibroblasti, linfoblasti, amniociti, villi coriali e DNA) provenienti da pazienti affetti da oltre 200 differenti difetti genetici. È possibile visitare in Internet un sito dedicato alla Banca e ai servizi del Laboratorio al seguente indirizzo: http://www.gaslini.org/labdppm.htm.La banca e' stata istituita con i seguenti scopi:·per i pazienti ed i loro familiari (studi retrospettivi, disponibilita' di materiale del caso indice in occasione di diagnosi prenatale, identificazione dei portatori..)·per ricerca (identificazione di nuovi difetti genetici, studi epidemiologici, approcci terapeutici..)·disporre di modelli “in vitro” per lo studio delle malattie genetico-metaboliche al fine di migliorare le conoscenze sui meccanismi che le determinano·fornire su richiesta rare cellule mutanti a laboratori specializzati, nazionali ed internazionali.
Pubblicazioni Scientifiche
- 2007 MOLECULAR GENETICS AND METABOLISM
Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
- 2008 CLINICAL GENETICS
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications
- 2006 HUMAN GENETICS
Propensity for paternal inheritance of de novo mutations in Alexander disease
- 2006 MOLECULAR GENETICS AND METABOLISM
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
- 2005 NATURE GENETICS
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
- 2008 NEUROLOGY
Neurodegeneration associated with genetic defects in phospholipase A(2)
- 2006 HUMAN MUTATION
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
- 2005 EUROPEAN JOURNAL OF HUMAN GENETICS
Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A
- 2009 EUROPEAN JOURNAL OF HUMAN GENETICS
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements
- 2006 JOURNAL OF MOLECULAR MEDICINE-JMM
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
- 2007 HUMAN MUTATION
GM1 Gangliosidosis: Molecular Analysis of Nine Patients and Development of an RT-PCR Assay for GLB1 Gene Expression Profiling
- 2005 NATURE GENETICS
Germline mutations in HRAS proto-oncogene cause Costello syndrome
- 2006 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
- 2005 NEUROPEDIATRICS
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders
- 2005 HUMAN MUTATION
Characterization of Iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method
- 2005 NATURE MEDICINE
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice
- 2006 NATURE GENETICS
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
- 2005 NEUROGENETICS
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
- 2008 MOLECULAR GENETICS AND METABOLISM
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II
- 2006 NATURE GENETICS
PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron
- 2005 NEUROGENETICS
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
- 2007 CLINICAL GENETICS
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
