Laurea magistrale in Biologia dell'Ambiente

Introduction to the course
Genes, genomes and genetic diseases genetic variability
Classification of genetic disorders
Transmission of characters and Examples of monogenic diseases
Risk of recurrence of monogenic diseases
Methods of study of the alteration of genetic information: DNA tests
The diagnosis of hereditary diseases
Prenatal diagnosis of genetic diseases
Concepts of medical genetics applied to artificial insemination
Cystic diseases of the kidney, as an example of monogenic disease
Outline of human cytogenetics: the structure of chromosomes and their study.
The chromosomal diseases and their causes
The diagnosis of chromosomal alterations
Risk of recurrence of chromosomal disorders
Molecular Cytogenetics and fields of application
Multifactorial or complex diseases
Immunogenetics
Disease Celiac disease as an example of Complex
Stem cells and application in medicine
Treatment of genetic diseases
Exercises and course evaluation
Hereditary tumors, family and sporadic
Oncogenes and tumor suppressor genes
Genetic markers, linkage analysis and linkage disequilibrium, positional cloning and candidate gene approach
The model of retinoblastoma and the loss of heterozygosity in the study of tumor suppressor genes
Mutations and their characterization
Hereditary tumors transmitted dominant and recessive cancer of the colon
Hereditary tumors and shelter systems: cancer of the colon and breast cancer, hereditary tumors, family and sporadic gastric cancer and melanoma
Stem cells and cancer
Qualitative and quantitative variations of splicing, alternative splicing as a low-penetrance allele, RNA interference therapy
Oncogene addiction and targeted therapy

L’obiettivo è quello di portare gli studenti alla conoscenza delle basi genetiche delle patologie umane e sui mezzi a disposizione per poter diagnosticare le malattie ereditarie. Si intende sviluppare la capacità degli studenti a riconoscere la componente genetica di numerose malattie e di utilizzare tali informazioni nella pratica clinica. Inoltre, si vogliono approfondire in che modo le nuove tecnologie consentano un approccio allo studio ed alla ricerca applicata alla genetica medica. Per questo si vogliono sviluppare anche gli aspetti applicativi, quali le possibilità diagnostiche e terapeutiche delle malattie con base genetica. Si vuole completare la formazione medica degli studenti con le più recenti informazioni sulle cause delle malattie ereditarie e sulla loro prevenzione avvalendosi di alcuni esempi di malattia, che verranno trattati in modo più dettagliato.

Il materiale didattico presentato a lezione è disponibile sul sito internet  (indicare se diverso dal sito internet)
http://lmbiologia.campusnet.unito.it/do/home.pl/View?doc=LM_BiologiaCellulareMolecolare.html
I testi base consigliati per il corso sono:
Titolo    Genetica molecolare umana
Autore    Strachan Tom; Read Andrew P. Dati    2012, 896 p.
Editore    Zanichelli  
Infine sono di seguito indicati altri siti internet di interesse:


SitSites for genetics    OMIM: Online Mendelian Inheritance in Man    http://www3.ncbi.nlm.nih.gov/Omim/

professionals    The British Society for Human Genetics    www.bshg.org.uk

    The Clinical Molecular Genetics Society    www.leeds.ac.uk/cmgs

    The European Society of Human Genetics    www.eshg.org

    Italian Society of Human Genetics    http://www.sigu.net/

    The human gene mutation database    http://archive.wcm.ac.uk/uwcm/mg/hgmd0.html

    The familial cancer database    www.facd.uicc.org/

    GeneClinics    http://www.geneclinics.com/

    GeneTests    www.genetests.org

    European Directory of DNA Laboratories (EDDNAL)    http://www.eddnal.com/

    American society of human genetics    http://www.faseb.org/genetics/ashg/ashgmenu.htm

    Kennedy Institute of Ethics, Georgetown University    www.bioethics.georgetown.edu/nirehg.html   

Sites for other doctors     The South West Thames Regional Genetics Service    www.genetics-swt.org/main.htm

and other primary care    Genetics and your practice    www.mchneighborhood.ichp.edu/wagenetics/906317226.html

professionals    Clinical genetics: a self-study guide     www.med.usd.edu/som/genetics/curriculum/Handspic.htm

Sites for patients,     American based Genetic Alliance website    www.geneticalliance.org

families, and carers    The genetic and rare conditions site, Medical Genetics, University of Kansas Medical Center    www.kumc.edu/gec/geneinfo.html

    The Genetic Interest Group    www.gig.org.uk/

    Contact a family    www.cafamily.org.uk/

    The Cancer Research Campaign    www.crc.org.uk

    Family village: a global community of disability-related resources    www.familyvillage.wisc.edu/index.html

    NOAH: New York online access to health    www.noah-health.org

    Genes and disease    www.ncbi.nlm.nih.gov/disease

Sites for public health     The Department of Health has a genetics page    www.doh.gov.uk/genetics.htm

professionals and    The Human Genetics Commission    www.hgc.gov.uk/

policymakers    The Public Health Genetics Unit    www.medinfo.cam.ac.uk/phgu/  

    National Newborn Screening Genetics Resources Center    www.genes-r-us.uthscsa.edu/resources/newborn/state.htm  

    The Office of Genetics and Disease Prevention, US Centers for Disease Control and Prevention    www.cdc.gov/genetics/

    HumGen    www.humgen.umontreal.ca/en/

Genetics newsletters    The Gene Letter    www.geneletter.com

    BioNews    www.progress.org.uk/News/Index.html

Journals    Nature Genetics    http://genetics.nature.com/

    The American Journal of Human Genetics    http://www.journals.uchicago.edu/AJHG/

    European Journal of Human Genetics    http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/EJHG/

    americanJournalMedicalgenetics    http://www3.interscience.wiley.com/cgi-bin/jtoc?ID=33129

    Annals of Human Genetics    http://www.journals.cup.org/owa_dba/owa/volumes?sjid=HGE

    Clinical Genetics    http://www.munksgaard.dk/journals/genetics/

    Human Molecular Genetics    http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/

    Journal of Medical Genetics    http://www.bmjpg.com/data/jmg.htm

    Trends in Genetics    http://scienceserver.cilea.it/cgi-bin/sciserv.pl?collection=journals&journal=01689525

Diseases    Chromosome Disorders    http://www.familyvillage.wisc.edu:8000/lib_chro.htm

    Cystic Fibrosis    http://www.ai.mit.edu/people/mernst/cf/

    Rare diseases    http://www.malattierare.iss.it/MR_3_totale.htm

    Orphanet    http://orphanet.infobiogen.fr/

    Charcot-Marie-Tooth    http://www.cmtint.org/

    Retinitis Pigmentosa    http://www.sph.uth.tmc.edu/Retnet/

    Sickle Cell and Thalassemia    http://cancer.mgh.harvard.edu/medOnc/sickle.htm

    Alport     http://www.cc.utah.edu/~cla6202/ASHP.htm

    Atrofie Muscolari spinali     http://www.italia.com/SMANET

    Down    http://www.nas.com/downsyn/

    X fragile     http://www.worx.net/fraxa/

    malattie renali ereditarie    http://www.cc.utah.edu/~cla6202/Hered.htm

    Sclerosi multipla     http://www.icanect.net:80/msf/

    Neurofibromatosi    http://www.nf.org/

    rene policistico     http://www.clark.net/pub/nhp/med/pkd/pkd.html

    Hereditary Hearing loss (HHL)    http://dnalab-www.uia.ac.be/dnalab/hhh/index.html  

    Oxalosis    http://www.ohf.org/

Al candidato vengono proposte una decina di quesiti, che prendono avvio da un caso, un risultato di un test, un’immagine, e che si articolano ciascuno in 3-4 domande.

Non è richiesta nessuna propedeuticità.

La frequenza alle lezioni non è obbligatoria; per i corsi di laboratorio e le attività di esercitazione relative ai corsi la frequenza è obbligatoria e non può essere inferiore al 70% delle ore previste.