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PubMed | Fondazione Telethon, GENETHON, Medical University of Graz, Institute of Rare Diseases Research and 22 more.
Type: Journal Article | Journal: European journal of human genetics : EJHG | Year: 2015

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003-2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and omics data, thus challenging the fragmentation of international cooperation on the field.


Meraviglia V.,Centro Cardiologico Monzino | Vecellio M.,Centro Cardiologico Monzino | Vecellio M.,University of Milan | Grasselli A.,Unita Cardiologica | And 11 more authors.
Differentiation | Year: 2012

Chorion, amnion and villi are reservoirs of mesenchymal stromal cells (StC) and the hypothesis that StC from fetal tissues retain higher plasticity compared to adult StC has been suggested. Aimed at investigating this aspect, a series of in vitro experiments were performed with StC isolated from first trimester human chorionic villi (CVStC).CVStC were cultured in: (i) standard mesenchymal medium (MM) and (ii) AmniomaxII® (AM), specifically designed to grow amnion-derived cells in prenatal diagnostic procedures. Cells were then exposed to distinct differentiation treatments and distinguished according to morphology, immunophenotype and molecular markers. Human StC obtained from adult bone marrow (BMStC) were used as control. CVStC cultured either in MM or AM presented stromal morphology and immunophenotype, were negative for pluripotency factors (Nanog, Oct-4 and Sox-2), lacked detectable telomerase activity and retained high genomic stability. In AM, however, CVStC exhibited a faster proliferation rate compared to BMStC or CVStC kept in MM. During differentiation, CVStC were less efficient than BMStC in acquiring adipocytes and osteocytes features; the cardiomyogenic conversion occurred at low efficiency in both cell types. Remarkably, in the presence of pro-angiogenic factors, CVStC reprogrammed toward an endothelial-like phenotype at significantly higher efficiency than BMStC. This effect was particularly evident in CVStC expanded in AM. Mechanistically, the reduced CVStC expression of anti-angiogenic microRNA could support this process.The present study demonstrates that, despite of fetal origin, CVStC exhibit restricted plasticity, distinct from that of BMStC and predominantly directed toward the endothelial lineage. © 2012 International Society of Differentiation.


Barberio G.,Uo Medicina Of Laboratorio | Ivaldi G.,Laboratorio Of Genetica Umana
Biochimica Clinica | Year: 2016

This second part of the review deals with the diagnostic procedures and the levels where tests for haemoglobin diseases have to be performed, with a view on the recent changes in technology, legislation and epidemiology. In particular, we focused on the diagnostic pathways for hemoglobinopaties in specialised laboratories, with special attention to appropriateness and harmonization of processes. These aspects may be greatly influential in determining diagnostic conclusions. © 2014 American Association for Clinical Chemistry, Inc.


Barberio G.,Uo Medicina Of Laboratorio | Ivaldi G.,Laboratorio Of Genetica Umana
Biochimica Clinica | Year: 2016

Disorders of globin gene, i.e. thalassemias and hemoglobin variants, are the most frequent genetic alterations among Italians. Research, prevention, diagnosis and treatment of these defects have attracted growing interest in the last 70 years. This review provides an update on the diagnosis of these defects, considering their high level of genotype heterogeneity and, hence, of phenotypic variability. The recent people migrations have contributed to making our population more heterogeneous, thereby presenting new problems in the prevention of these defects. The increase in the types of hemoglobin disorders observed in preventive screening tests performed in hundreds of clinical laboratories is also due to the technological improvement over the last 30 years. © 2014 American Association for Clinical Chemistry, Inc.


Viaggi C.D.,Laboratorio Of Genetica Umana | Viaggi C.D.,Galliera Hospital | Cavani S.,Laboratorio Of Genetica Umana | Pierluigi M.,Laboratorio Of Genetica Umana | And 6 more authors.
Journal of Applied Genetics | Year: 2012

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation. We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparently balanced at a standard karyotype analysis and of maternal origin, was demonstrated to be unbalanced by array-CGH and FISH. In conclusion our study underlines the importance of the combined use of a quantitative technique, as array-CGH, to detect criptic segmental aneuploidies, and a qualitative tool, as FISH analysis, to physically map the localization of the chromosome segments involved, in order to realize the exact nature that underlies a chromosomal rearrangement. © 2012 Institute of Plant Genetics, Polish Academy of Sciences, Poznan.


Musumeci B.,University of Rome La Sapienza | Spirito P.,Ente Ospedaliero Ospedali Galliera | Parodi M.I.,Laboratorio Of Genetica Umana | Assenza G.E.,University of Rome La Sapienza | Autore C.,University of Rome La Sapienza
Journal of the American Society of Echocardiography | Year: 2011

Accessory mitral valve tissue is a rare congenital cardiac anomaly that was initially described in children in association with other cardiac congenital abnormalities and, more recently, has also been reported in adults. The authors report a patient with genetically confirmed hypertrophic cardiomyopathy who also had a highly mobile, free-floating membrane-like structure in contiguity with the ventricular side of the anterior mitral valve leaflet, a feature consistent with the diagnosis of accessory mitral valve tissue. © 2010 by the American Society of Echocardiography.


Barberio G.,Medicina Of Laboratorio | Leone D.,Laboratorio Of Genetica Umana | Ivaldi G.,Laboratorio Of Genetica Umana | Giordano P.C.,Leiden University
Hemoglobin | Year: 2013

We report a new hemoglobin (Hb) variant, found in a North-East Italian family living in the city of Treviso. The proband, a non anemic 60-year-old male with a history of chronic rhinitis, allergy to Parietaria and suspected obstructive sleep apnea syndrome, was referred for blood gas analysis. Determination of the oxygen affinity revealed a p50 of 32.5 mmHg (control 27.5 mmHg) indicating a moderate decrease in oxygen affinity. An abnormal pattern compatible with an α Hb variant was observed on high performance liquid chromatography (HPLC); direct sequencing revealed a transition at codon 91 of the α2 gene (HBA2: c.274C>T) changing leucine into phenylalanine. Characterization and phenotype studies are reported. © 2013 Informa Healthcare USA, Inc.


Piccione M.,University of Palermo | Antona R.,University of Palermo | Salzano E.,University of Palermo | Cavani S.,Laboratorio Of Genetica Umana | And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defects, and developmental delay. Genotype-phenotype correlations of previously published patients have strongly suggested anterior eye segment anomalies as one of the major malformations of the syndrome if the critical 6p25 region contains the FOXC 1 gene. In addition, the presence in this region of one or more genes involved in hearing loss has been hypothesized. We report a patient with a 47,XYY karyotype and submicroscopic terminal 6p deletion. Further characterization of the deletion with array comparative genome hybridization also revealed a cryptic microduplication on chromosome 19. The patient showed dysmorphic features, neuromotor retardation, and profound language impairment, in absence of hearing loss and structural eye anomalies. As far as we know this is the first reported terminal 6p25.1 deletion case without eye dysgenesis precisely characterized by array-CGH. Our result suggests that the genes in this region may not be obvious candidates for hearing loss and demonstrate the need for further elucidation of the function of the genes involved in eye developmental processes. © 2011 Wiley Periodicals, Inc.


Piccione M.,University of Palermo | Vecchio D.,University of Palermo | Cavani S.,Laboratorio Of Genetica Umana | Malacarne M.,Laboratorio Of Genetica Umana | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-distinct, unpredictable, and/or milder phenotype ranging from normal to mild learning difficulties with/without other multiple defects. We report on the first case of myoclonic epilepsy in a 10-year-old boy carrying a de novo 22q11.2 microduplication. Emphasizing that this rare association could be one of the many unrecognized aspects underlying this new emerging syndrome and once again its clinical heterogeneity, we suggest further investigation of the function of the RAB36 gene and propose that in the screening of individuals with developmental delay, minor behavioral problems mild dysmorphology and seizures, investigation of 22q11.2 microduplications should be considered. © 2011 Wiley Periodicals, Inc.


PubMed | Laboratorio Of Genetica Umana
Type: Case Reports | Journal: Journal of applied genetics | Year: 2012

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparently balanced at a standard karyotype analysis and of maternal origin, was demonstrated to be unbalanced by array-CGH and FISH. In conclusion our study underlines the importance of the combined use of a quantitative technique, as array-CGH, to detect criptic segmental aneuploidies, and a qualitative tool, as FISH analysis, to physically map the localization of the chromosome segments involved, in order to realize the exact nature that underlies a chromosomal rearrangement.

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