Friday, 16 November 2018 16:14

Gene duplication

On the 19h of November 2018 Giuliana Giannuzzi of the University of Lausanne will give a seminar entitled Segmental duplication in human disease, diversity and evolution at 2.00 pm in the College lecture theatre.  In her talk will discuss the evolutionary, population and medical implications of the process of duplications of chromosomal segments.

All College students are invited to attend, especially those reading Medicine, Biology, Biotechnology and Pharmaceutical Sciences. The poster of the lecture can be downloaded here. Further information about the seminar, including abstract, references and a short biography of the speaker can be found at this page.

Image: Nucleotide variation among segmental duplications. From Hartasánchez et al. G3: Genes, Genomes, Genetics 4:1479-89,2014. 

 

 

Segmental duplication in human disease, diversity and evolution

19th November 2018.  
Giuliana Giannuzzi, University of Lausanne, Switzerland

On the 19th of November 2018 Giuliana Giannuzz of the University of Lausanne will give a seminar entitled Segmental duplication in human disease, diversity and evolution at 2.00 pm in the College lecture theatre.  In her talkG Giannuzzi will discuss the mechanisms as well as the evolutionary implications of the duplications of segments of chromosomes.  All College students are invited to attend, especially those reading Medicine, Biology, Biotechnology and Pharmaceutical Sciences. The poster of the lecture can be downloaded here.

Abstract

Segmental and gene duplications in the human genome are important for human genetic variation, disease and evolution. They represent human genome trade-offs between the possible adaptive function of duplicated genes mapping to these segments and their potential priming of pathogenic rearrangements. One example is the 16p11.2 locus, where recurrent copy number variation (CNV) is mediated by a complex set of segmental duplications. The deletion and duplication are associated with autism, schizophrenia, and reciprocal defects in head size and body weight. We interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs and found that transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in corresponding mouse models, suggesting that ciliary dysfunction contributes to 16p11.2 pathologies.We reconstructed the evolutionary history of the locus and discovered that it had been dramatically reorganized during hominid evolution. This series of genomic changes includes the Homo sapiens-specific duplication of the BOLA2 (BolA family member 2) gene, a gene involved in iron homeostasis, approximately 282 thousand years ago. This duplication that predisposes our species to the recurrent pathogenic 16p11.2 CNV, is absent from the genomes of our extinct relatives Neanderthal and Denisovan. It is apparently under selection (P<0.0097) and nearly fixed in the human lineage. Preliminary data on the possible functional role of BOLA2 duplication in 16p11.2 pathology and evolution of human-specific features will be presented. This region exemplifies that in the future we should comprehensively study structurally composite and repetitive regions of the human genome that predispose to pathogenic rearrangements while embedding human-specific genes, to unravel their role in disease, complex traits and evolution of human-specific features.

Biography
G Giannuzzi studied Medical Biotechnology and Molecular Medicine and obtained a PhD in Genetics and Molecular Evolution from the University of Bari. During her PhD she spent one year as visiting student in the laboratory of Prof. Evan Eichler, University of Washington, Seattle, where she worked on the evolution of the primate LRRC37 gene family. In 2012 she joined the laboratory of Prof. Alexandre Reymond of the University of Lausanne as a postdoc to study the molecular signatures associated with the evolution, diversity and disease of the 16p11.2 region of the human genome.


References

[1] Nuttle X*, Giannuzzi G*, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. *equally contributing. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. 2016 Aug 11;536(7615):205-9.

[2] Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology. Am J Hum Genet. 2015 May 7;96(5):784-96.

 
Image
A diagramatic representation of gene duplication in A thaliana,

Wednesday, 14 November 2018 06:10

Health & Safety

On the 28h of November 2018 Fabio  R Collamati and Antonio R Satta, namely the EDiSU Advisor/Consultant on matters of Health & Safety and the EDiSU Health & Safety Officer will meet the Collegio Volta and Collegio Golgi freshers.  The meeting will take place at 6.03 pm in the College lecture theatre. All Volta students who entered College on or after the 1st of September 2018 must attend this meeting and EDiSU will monitor attendance.

Although the majority of Volta freshers attended a College Health & Safety meting on 2 October 2018, Collegio Volta is specially pleased to see that EDiSU is taking a pro-active role on Helth & Safety matters and requests that freshers, include ones with evening classes, attend the EDiSU Health & Safety meeting without exception.

 

 

Tuesday, 13 November 2018 07:19

Multi-omic Biology

On the 15h of November 2018 Luca Pandolfini of Cambridge University will give a seminar entitled Multi-omic analysis of epigenetics and RNA modifications at 2.00 pm in the College lecture theatre.  In his talk L Pandolfini will discuss how a multi-omic approach may offer a powerful discovery path for studying fundamental biological processes as well as disease mechanisms.

All College students are invited to attend, especially those reading Medicine, Biology, Biotechnology and Pharmaceutical Sciences. The poster of the lecture can be downloaded here. Further information about the seminar, including abstract, references and a short biography of the speaker can be found at this page.

Image: a small inhibitor of a cellular RNA molecule. Courtesy of Y Xu and colleagues at Duke University.

 

 

Multi-omic analysis of epigenetics and RNA modifications

15th November 2018.  
Luca Pandolfini, University of Cambridge, UK

On the 15th of November 2018 Luca Pandolfini of the Gurdon's Institute at the UUniversity of Cambridge will give a seminar entitled Multi-omic analysis of epigenetics and RNA modifications at 2.00 pm in the College lecture theatre.  In his talk L Pandolfini will discuss how a multi-omic approach may offer a robust path to the discovery of important celllular regulatory mechanisms based on epigenetics or RNA modifications.This is a novel and powerful approach to the study of developmental and disease processes and all College students are invited to attend, especially those reading Medicine, Biology, Biotechnology and Pharmaceutical Sciences. The poster of the lecture can be downloaded here.

Abstract
To unravel the complexity of cell systems it is necessary to comprehensively consider as many descriptors of a cell state as possible (e.g. RNA expression, miRNA and protein levels, and mRNA loading on RISC complex or on translating ribosomes). This talk presents an overview of different projects distilled from a multi-omic approach, which allowed the identification of unexpected yet interesting molecular mechanisms. These include the maintenance of ground state pluripotency via mRNA translation control (1) and the role of METTL3 methyltransferase in sustaining AML leukaemia (2). I will provide a brief historical context to RNA modifications and I will also present unpublished data regarding how m7G methylation of miRNAs controls cancer cell migration.

Biography
L Pandolfini obtained his PhD from Scuola Normale Superiore di Pisa in 2015, under the supervision of Prof. Federico Cremisi, with a project aimed at dissecting the miRNA-mediated translation control of stem cell priming to differentiation (1). The same year he moved to the Gurdon Instute, Cambridge (UK) to work as a Research Associate in Tony kouzarides' lab. Has been studying the novel field of RNA modification epigenetics (or 'epitranscriptomics'). In particular, the focus of his post-doctoral research has been the development of new 'wet' and bioinformatic techniques for mapping RNA modifications, in order to study their role in cancer biology (2).


References
[1] Pandolfini et al., 2016 RISC-mediated control of selected chromatin regulators stabilizes ground state pluripotency of mouse embryonic stem cells - Genome Biol. 2016 May 6; doi: 10.1186/s13059-016-0952-x.
[2] Barbieri et al., 2017 Promoter-bound METTL3 maintains myeloid leukaemia by m6A-dependent translation control - Nature. 2017 Dec 7;552(7683):126-131. doi: 10.1038/nature24678.

 
Image
A short RNA molecule forming an RNA duplex.  These short regulatory RNAs can alter the fate of RNA transcripts and hence gene expression.

Saturday, 10 November 2018 15:38

Harvey Medical Society

Members of the College will be pleased to learn that the Harvey Medical Society has elected its new executive. The newly elected President, vice President and Secretary of the Society for the academic year 2018/19 are Maria Sampani, Shaul Gordon and Anamaria Solcan Savu respectively.

The Harvey Medical Society, the first of its kind at Pavia, aims to promote the academic and social life of the the students enrolled in the Harvey Medical Course. A large number of Harvey students live and work at Collegio A Volta and the College has made available to the the Harvey Medical Society an office from which members of the executive can coordinate and build the academic work and social initiatives of the Society, some of which will clearly be based at Collegio Volta.

 

Monday, 05 November 2018 16:57

Welcome Day

The Chancellor of the University and the EDiSU President would like to offer their welcome to all students of the University of Pavia living and studying in EDiSU Colleges.  The meeting will take place on the  29th of November at 6.30 pm and will also involve a testimony by a former College student.

This is a nice social event and an opportunity to meet students from other Colleges. Members of Collegio Volta therefore are stroungly encouraged to participate.

 

Wednesday, 07 November 2018 05:36

English Courses

College has received confirmation from EDiSU yesterday that the arrangements for the English Courses have been finalised. The arrangements involve a major and positive change compared to previous years, as detailed below.


Courses

Volta, the first College in Pavia to offer Courses in English language, is committed to give every College student the opportunity to learn English at level C1, a grade that opens the door to postgraduate studies at English and USA Universities and provides a strong foundation for successful applications and interviews for jobs outside Italy and in Italy that require fluency in English language.  Starting from this year the English Courses will be offered not by a private school but by the Centro Linguistico of the University of Pavia that will ensure the highest possible level of teaching. Three Courses will be offered at Collegio Volta chosen between the A1, A2, B1, B2 and C1 levels. The three levels chosen will depend upon the results of the placement tests (see below). The study of English at Volta is free as the English Courses are funded by EDiSU, as they were last year, and placement and exit tests are funded by the College itself.


Placement Tests

Students who entered College on or after 1 September 2017 have to enter an online placement test in English language. Exceptions are three categories of students, namely:  (i) members of Volta whose native language is English,  (ii) students who hold a C1 or higher (C2) certification in English in a recent IELTS examination and,  (iii) students whose level of English is below a C1 but who opt to enter the College-based French or German language Courses in 2018/19 because they plan to apply for an Erasmus fellowship and placement at a French or German University.

In summary, as discussed at the time of admission, every student who gained a placement in College on or after 1 September 2017, needs to attend one of the language Courses throughout the year. Although the College holds partial data on students who fall in categories (ii) and (iii), these students are asked to confirm their certification and/or the choice of the French or German Courses with a brief email to the College Director before Friday 9th of November 2018 in order to finalise the lists of students entering the English placement test during the weekend (Saturday/Sunda 10/11th of November) and enable these students to sit the test starting from Monday the 12th of November.  The placement test in use at Volta is the Oxford Online Placement Test (OOPT) developed by Oxford University and delivered by Oxford University Press. A number of students who entered College in 2017/18 sat the placement test last year. These students are requested to resit the test in order to assess the degree of improvement in their level of English as a result of the Course they attended last year.
                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        Finally, all students admitted to Volta before 1 September 2017 are welcome naturaly to sit the placement test and enrol in the English Courses. These students however will not be entered by default and need to confirm their intention to enrol in the English Courses with an email to the College Director before Friday 9th of November 2018. All students due to sit the placement test will receive an email from Oxford University Press confirming the availability of the test and details for access.


Classes

Upon completion of the placement tests and analysis of test results, College will be in the position to confirm the levels of the three Courses offered  at Volta in 2018/19 as well as the day(s) of the week, time and rooms in which the Courses will take place.

 

Monday, 05 November 2018 20:49

Study Plans

College requests all undergraduate students and all students of MSc Courses (Lauree Magistrali) to submit their study plan (an example of the format required is available here, students who have difficulties in producing this file from their page should seek help from fellow students who know what to do.

Students should also list in their email which exams they plan to sit at the end of semester 1. Students unsure about the possibility of sitting specific examination(s) should list these examinations and indicate that the sitting is probable as opposed to certain.

College requires this information by Monday the 12th of November. Students unable to supply this information by this date  should write to the College Director and explain the reason for the delay.

Students Committees 2018/19

In October 2018 College students elected a new, 6 member strong executive of the Volta Students' Union (3 undergraduates and 3 postgraduates).  Elected committee members are listed below.  F Lupoli and and M Abou Allez served in the Committee one semester each because they had secured the same number of votes at the election.


Volta Students' Union Executive


Name: Alessandro S Papa (President)
Course: Medicine (Golgi), Year 4
Roles: Social and Sport

Name: Natalia Khenkina
Course: Medicine (Harvey), Year 6
Reoles: House

Name: Francesco Cervellera
Course: Medicine (Golgi), Year 3
Roles: Library, teaching and IT

 

Name: Corrado Regalbuto
Course: Paediatrics (Specialty School), Year 3
Roles: Social and Sport

Name: Elizabeth Iskandar
Application in progress (Specialty School)
Roles: House

Name: Federica Lupoli
Course: Molecular Biology and Genetics (MSc), Year 3
Roles: Library, teaching and IT (semester 1)

Name: Monah Abou Allez
Course: Genetics, Molecular Biology and Cell Biology (PhD), Year 2
Roles: Library, teaching and IT (semester 2)

 

 

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