OPOMNIK: IJS KOLOKVIJ, Ponedeljek, 11. 09. 2017; ob 13. uri; prof. dr. Anna-Elina Lehesjoki

[Tanja Debevec]

Vabimo vas na 1. predavanje iz sklopa "Kolokviji na IJS" v letu 2017/18, ki bo v ponedeljek, 11. septembra 2017, ob 13. uri v Veliki predavalnici Instituta »Jožef Stefan«  na Jamovi cesti 39 v Ljubljani. Napovednik predavanja najdete tudi na naslovu http://www.ijs.si/ijsw/Koledar_prireditev, posnetke preteklih predavanj pa na http://videolectures.net/kolokviji_ijs. 

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prof. dr. Anna-Elina Lehesjoki

Univerza v Helsinkih, Finska

 

Progresivne mioklonalne epilepsije - na poti k  medicini po meri bolnika

 

V preteklih dveh desetletjih je razumevanje molekularno-genetskih osnov genetskih bolezni pri človeku doživelo velik napredek, pri čemer so npr. tehnologije za sekveniranje naslednje generacije omogočile identifikacijo genov celo pri posameznih družinah.  Naslednji izzivi na tem področju vključujejo uporabo tega znanja v korist bolnikov z novimi diagnostičnimi, preventivnimi in terapevtskimi metodami. Progresivne mioklonalne epilepsije (PME) so redke dedne nevrodegenerativne bolezni, ki se navadno pojavijo v otroštvu. Glavni simptomi teh bolezni so epileptični napadi in nenadzorovano (mioklonično) trzanje mišic. Po odkritju mutacij v genu za cistatin B (stefin B) kot vzroku za najpogostejšo obliko PME - Unverricht-Lundborgovo bolezen, ki sega v l. 1996, je bilo identificiranih že preko 25 genov, povezanih s PME.  V predavanju bomo povzeli pregled današnjega razumevanja molekularno genetskih osnov PME in opisali našo nedavno identifikacijo ponavljajoče se de novo mutacije v genu KCNC1, kot enemu glavnih vzrokov PME. Predstavili bomo delo na cistatinu B (stefinu B), osredotočeno na fiziološko funkcijo tega proteina pri Unverricht-Lundborgovi bolezni. Na kratko se bomo dotaknili tudi mehanizma, ki bi lahko poenotil vzroke za PME, in obete za zdravljenje z terapijo po meri bolnika.

Predavanje bo v angleščini.

Lepo vabljeni!

 

 

 




We invite you to the 1st Institute colloquium in the academic year 2017/18. The colloquium will be held on Monday September 11, 2017 at 1 PM in the main Institute lecture hall, Jamova 39, Ljubljana. To read the abstract click  http://www.ijs.si/ijsw/Koledar_prireditev. Past colloquia are posted on  http://videolectures.net/kolokviji_ijs.

 

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prof. dr. Anna-Elina Lehesjoki

University of Helsinki, Finland

 

Progressive myoclonus epilepsies – on the way to precision medicine?

 

During the past two decades, significant progress has been made in understanding the molecular genetic basis of human genetic diseases, the current next-generation sequencing technologies allowing gene identification even in single families. The future challenge is to translate this knowledge into the benefit of patients by producing novel methods for diagnostics, prevention and treatment. Progressive myoclonus epilepsies (PME) are rare, inherited, and usually childhood-onset neurodegenerative diseases whose core symptoms are epileptic seizures and debilitating involuntary muscle twitching (myoclonus). After the identification of mutations in the cystatin B encoding gene as the underlying cause for the most common single form of PME, Unverricht-Lundborg disease in 1996, over 25 genes associated with PME have been identified. In this talk, we will give on overview on the current molecular genetic understanding of PMEs culminating in our recent identification of a recurrent de novo mutation in the KCNC1 gene as a major cause of PME. We will review work on cystatin B aiming at understanding its physiological function and disease mechanisms in Unverricht-Lundborg disease. We will shortly discuss the possibly unifying mechanism underlying PME and prospects for precision medicine approaches.

 

Cordially invited!

 

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