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European Conference on Harmonisation of PhD programmes

OPIS PREDMETA

Šifra predmeta: G007
Naziv predmeta: Genetska osnova i nove dijagnostičke metode monogenskih mišićnih i živčanih bolesti 
Voditeljica predmeta: prof.dr.sc. Nina Canki-Klain redoviti profesor
Broj sati - predavanja: 11  
Broj sati - seminari: 12  
Broj sati - vježbe: 6  
Ukupni broj sati: 29
Broj ECTS bodova: 5
Početak:
Kraj:
Vrijeme:
Mjesto: KBC Rebro, Klinika za neurologiju,Kišpatićeva 12

Razvijanje općih i specifičnih kompetencija: Usvajanje načela i metodologije istraživanja u području predmeta što omogućuje kritičko prosuđivanje uloge, dosega i ograničenja specifičnih istraživačkih metoda te snalaženje u literaturi i njezinu kritičku analizu.
Sadržaj: Suvremeni molekularni i multidisciplinarni pristup dijagnostici, etiopatogenezi, sprječavanju te sadašnje mogućnosti i perspektive liječenja najčešćih monogenskih mišićnih i živčanih bolesti: Duchenneova/Beckerova mišićna distrofija (DMD/BMD); Steinertova miotonična distrofija (MD1); facioskapulohumeralna mišićna distrofija (FSHD); pojasne mišićne distrofije (LGMD1 i LGMD2); Emery-Dreifussova mišićna distrofija (emerin i lamin A/C); okulofaringealna mišićna distrofija (OPMD); kongenitalne miopatije i kongenitalne mišićne distrofije (CMD); spinalna mišićna atrofija (SMA) i Huntingtonova bolest (HD). Prikazat će se strategije identifikacije gena i kloniranja, korelacija genotip-fenotip, mogućnost genskog ispitivanja na razini pojedinca i populacije te perspektive za gensku terapiju.
Suradnici: Dr.Luis Garcia,Ph.D. (Pierre et Marie Curie Université de Paris i UMRS 974, Institut de Myologie, Paris, Francuska), dr.sc.Biserka Kovač, dr.sc.Ida Kovač, mr.sc. Sanja Kovačić, dr. sc. Astrid Milić, prof. dr. sc. Davor Miličić, dr.David Ozretić, prof.dr.sc. Kristina Potočki, dr.sc. Susana Quijano-Roy (Hôpital Raymond Poincaré, Garches, UMRS 974, Institut de Myologie, Paris, Francuska), mr. sc. Davorka Vranješ
Literatura: Barois A, ed (1998) Maladies neuromusculaires. Progres en pédiatrie 3, Nouvelle Série, Doin, Paris.

Bushby K (2001). Genetic counselling in muscle disease. In: Disorders of voluntary muscles, Karpati G, D Hilton-Jones & RC Griggs eds, 7th ed, Cambridge University Press, 705-38.

Bushby K (2000) Genetics and the muscular dystrophies. Dev Med Child Neurol 42: 780-4.

Bushby KM (1999) The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 8: 1875-82.

Bushby KM (1999) Making sense of the limb-girdle muscular dystrophies. Brain 122: 1403-20.

Canki-Klain N, Recan D, Milicic D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N. Clinical Variability and Molecular Diagnosis in a Four-generation Family with X-linked Emery-Dreifuss Muscular Dystrophy. Croat Med J 2000; 41: 389-395.

Canki-Klain N, Dodé C, Zurak N, Brinar V. Genetic and molecular studies of Huntington's disease. Neurol Croat 1999; 47(3-4): 217-228.

Canki-Klain N. Ethical and psychological aspects of Huntington’s Disease. Neurol Croat 1998; 47(2): 127-132.

Canki-Klain N, Milic A, Kovac A, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan J-C,

Urtizberea JA, Politano L, Feingold J. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in

Croatia. Am J Med Genet 2004; 125A: 152-156.

Emery AEH. Neuromuscular disorders: Clinical and Molecular Genetics, John Wiley and Sons, Chichester, 1998.

Engel AG, Franzini-Armstrong (2004) Myology,3rd ed. McGraw-Hill Medical

Strachan T, Read AP (2000) Human Molecular Genetics, 2nd ed. Bios Scientific Publishers, Oxford.

Watts RL, Koller WC (2004) Movement Disorders: Neurologic Principles and Practice, McGraw-Hill Medical

Wells RD, Warren ST eds (1998) Genetic instabilities and hereditary neurological diseases. Academic Press, San Diego.



Bushby K (2001). Genetic counselling in muscle disease. In: Disorders of voluntary muscles, Karpati G, D Hilton-Jones & RC Griggs eds, 7th ed, Cambridge University Press, 705-38.

Bushby K (2000) Genetics and the muscular dystrophies. Dev Med Child Neurol 42: 780-4.

Bushby KM (1999) The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 8: 1875-82.

Bushby KM (1999) Making sense of the limb-girdle muscular dystrophies. Brain 122: 1403-20.

Canki-Klain N, Recan D, Milicic D, Llense S, Leturcq F, Deburgrave N, Kaplan JC, Debevec M, Zurak N. Clinical Variability and Molecular Diagnosis in a Four-generation Family with X-linked Emery-Dreifuss Muscular Dystrophy. Croat Med J 2000; 41: 389-395.

Canki-Klain N, Dodé C, Zurak N, Brinar V. Genetic and molecular studies of Huntington's disease. Neurol Croat 1999; 47(3-4): 217-228.

Canki-Klain N. Ethical and psychological aspects of Huntington’s Disease. Neurol Croat 1998; 47(2): 127-132.

Emery AEH. Neuromuscular disorders: Clinical and Molecular Genetics, John Wiley and Sons, Chichester, 1998.

Engel AG, Franzini-Armstrong (2004) Myology,3rd ed. McGraw
Dodatna literatura: Neuromuscular Disease Center http: //www. neuro. wustl. edu/neuromuscular OMIM Online Mendelian Inheritance in Man http: //www. ncbi. nlm. nih. gov/omim Neuromuscular Disorders, official journal of WMS http: //www. elsevier. nl/locate/jnlnr/00973 World Muscle Society(WMS) http: //www. worldmusclesociety. org Child Neurology Home Page http: //waisman. wisc. edu/child-neuro/index. html
Oblici nastave: Naglasak je na interaktivnim radionicama, analizi posebnih slučajeva i primjera, seminarima na zadanu temu i laboratorijskom radu. Završni seminar: kritička analiza jednog znanstvenog članka iz područja predmeta ("journal club").
Način provjere: Prikaz slučaja u pisanom i usmenom saopćenju uz raspravu
Uvjeti upisa:

Znanstveni radovi: prof.dr.sc. Nina Canki-Klain
1. Canki N, Dutrillaux B, Tivadar I. Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X; 3) (p21; q13) de novo. Ann Genet 1979; 22: 33-9.

2. Canki N, Dutrillaux B. Two cases of familial Paracentric Inversion in Man Associated with Sex Chromosome Anomaly: 47, XXY, inv (5) (q21q32) and 45, X, inv (7) (q11.3q22.3). Hum Genet 1979; 47: 261-8.

3. Warburton D, Byrne J, Canki N. Chromosomal Anomalies and Prenatal Development. An Atlas. Oxford Monographs on Medical Genetics No 21, New York: Oxford University Press, 1991.

4. Stern MH, Soulier J, Rosenzwajg M, Nakahara K, Canki-Klain N, Auriaz A, Sigaux F, Kirsch JR. MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alfa/omega locus in mature T cell proliferations. Oncogene 1993; 8: 2475-83.

5. Audrezet MP, Canki-Klain N, Mercier B, Bravar D, Verlingue C, Ferec C. Identification of three novel mutations (457TAT čG, D192G, Q685X) in the Slovenian CF patients. Hum Genet 1994; 93: 659-62.

6. Canki-Klain N, D.Recan, D.Milicic, S.Llense ,F.Leturcq, N.Deburgrave, J.C.Kaplan, M.Debevec, N.Zurak: Clinical Variability and Molecular Diagnosis in a Four-generation Family with X-linked Emery-Dreifuss Muscular Dystrophy. Croat Med J 2000; 41: 389-395.

7. Hećimović S, Klepac N, Vlašić J, Vojta A, Janko D, Skarpa-Prpić I, Canki-Klain N, Marković D, Božikov J, Relja M, Pavelić K. Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms. Hum Mutat 2002; 20/3:233-40.

8. Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan J-C, Urtizberea JA, Politano L, Feingold J. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. Am J Med Genet 2004; 125A: 152-156.

9. Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L,Brocetolini A, Canki-Klain N, Comi Li, Nigro G, Angelini C, Nigro V.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet 2005; 42:686-613.

10. Milić A, Canki-Klain N. Calpainopathy (LGMD2A) in Croatia: Molecular and Haplotype Analysis. Croat Med J 2005; 46/4: 657-663.

11. Canki-Klain N, Žagar M, Alfirević –Ungarov T, Milić A, Malnar M, Mitrović Z, Vranješ D, Kovač B, Cvitanović-Šojat L: Clinical, genetic and epidemiological study of prevalent autosoma recessive limb girdle muscular dystrophies in Croatia. Neuromuscular Disorders 2007; 17/9-10: 810.

12. Canki-Klain N. Etički problemi u medicinskoj genetici. (Ethical problems in medical genetics) In Medicinska etika, ed. Niko Zurak, Sveučilište u Zagrebu-Medicinski fakultet, Merkur A.B.D,Zagreb 2007,105-120.

13. Canki-Klain N, Beroud C., Clarke NF, Kovac I, Chambert S, Guicheney, P. The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2. Neuromuscular Disorders 2009; 19: 574.


Ureduju:

Obnovljeno 20. listopada 2006.