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Rare neurological diseases

TÉMAKIÍRÁS

Intézmény: Pécsi Tudományegyetem
klinikai orvostudományok
Klinikai Idegtudományi Doktori Iskola

témavezető: Kálmán Bernadette
helyszín (magyar oldal): PTE ÁOK Pécs, Szigeti u. 12.
helyszín rövidítés: ÁOK


A kutatási téma leírása:

A significant proportion of rare neurological diseases are associated with hereditary genetic abnormalities. Over the past decade, a remarkable progress has been made in mapping these diseases by using new genome-wide biotechnological methods. However, in clinical practice, there are still many patients and families whose molecular pathologies remain unexplored. Taking advantage of ongoing genomic and bioinformatic developments at the Szentagothai Research Center, University of Pécs, we would like to work up neurological diseases that may be associated with DNA mutations. These studies will include clinical and para-clinical characterization of phenotypes and laboratory exploration of genotypes by a collaborating team of neurologists, geneticists, molecular geneticists and bioinformaticians. As part of this team, the PhD student will help coordinating the clinical examination of and sample collection from patients and their family members, participate in some of the laboratory procedures and the analyses of results. Overall, this program aims not only to provide a scientific degree, but also to train a physician-scientist who should be able to promote molecular medicine.

felvehető hallgatók száma: 1

Jelentkezési határidő: 2024-05-16


2024. IV. 17.
ODT ülés
Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).

 
Minden jog fenntartva © 2007, Országos Doktori Tanács - a doktori adatbázis nyilvántartási száma az adatvédelmi biztosnál: 02003/0001. Program verzió: 2.2358 ( 2017. X. 31. )