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Titel Neurogenetics
Kursnummer 2600
Program Neurovetenskap
Språk Engelska
Antal högskolepoäng 1.5
Datum 2021-09-27 -- 2021-10-01
Kursansvarig institution Institutionen för neurobiologi, vårdvetenskap och samhälle
Särskild behörighet
Kursens syfte The purpose of the course is to introduce the concepts and methodology applied in human genetic studies in general with examples from human diseases in the nervous system and to use this knowledge to prepare and present oral presentations as well as ask and answer questions. The course will also allow interaction between PhD-students with master students in their second year, both with a special interest in neuroscience. A potential purpose for students attending all 6 courses given in sequence (Frontiers Courses in Neuroscience) is also to place Neurogenetics in a greater research context.
Kursens lärandemål I) The student will be able to understand and describe the major differences and uses of human genetic studies of neurogenetic diseases using i) Twin-studies, ii) population based studies, iii) case-control studies, iv) family studies. Students will have an in depth knowledge and understanding of selected neurologic conditions such as Alzheimer disease, trinucleotide repeat disorders, their genetic basis and an insight into the molecular pathogenesis, if known. II) The students will also be able to describe how genetic studies can be used to increase our understanding of the biological basis of neurological conditions. III) The students will be able to contribute substantially to critical evaluation and presentation of scientific articles in the field of neurogenetics. IV) The students will have an understanding of the different genetic techniques and platforms available for studies in human (neurological) conditions.V) The students will have an insight in the application/use of genetic testing for neurological diseases.
Kursens innehåll I) The course will give examples of how different types of genetic studies can help us identify genes involced in the pathogenesis of neurological disease: i) Twin-studies, ii) population based studies, iii) case-control studies, iv) family studies. II) The course will give examples of different gene defects in neurological diseases such as trinucleotide repeats, point mutations, copy number variations, susceptibility genes, rearrangements, transciptional regulation and epigenetics. III) The course will provide an in depth understanding of the genetics of selected neurological diseases and how these genetic dysfunctions help us understand the molecular mechanisms of disease.
Arbetsformer Daily class-room lectures. Time will be allocated for students to prepare a group presentation of a selected topic/genetic neurological disease. The presentation will be on the last day of the course and constitutes the examination.
Obligatoriska moment All lectures/seminars are compulsory and in case of absence, the session can be compensated by a short written report using the literature after agreement with the course director.
Examination The examination will be on the last day of the course and it will consist of i) participating in a group presentation of a selected topic/genetic neurological disease ii) participate as an active audience when other groups have their presentations. Every student will be assessed individually in accordance with the intended learning outcomes of the course.
Kurslitteratur och övriga läromedel The lecturers and course organizer will provide a list and pdfs of recommended scientific articles published in scientific journals as well as recommended weblinks.
Antal studenter 8 - 20
Urval av studenter Selection will be based on 1) the relevance of the course syllabus for the applicant's doctoral project (according to written motivation), 2) start date of doctoral studies (priority given to earlier start date)
Övrig information The course will most likely be online, lectures combined with literature studies on your own to prepare for the examinaton. The host will change from Dept NVS to Dept MMK.
Ytterligare kursledare Kalicharan Patra will serve as additional contact person and will assist in the literature seminars and administration. Department of Molecular Medicine and Surgery will also be host department.
Senaste kursvärdering Kursvärderingsrapport
Kursansvarig Caroline Graff
Institutionen för neurobiologi, vårdvetenskap och samhälle
733839399
Caroline.Graff@ki.se

Bioclinicum J10:20
Visionsgatan4
17164
Solna
Kontaktpersoner Kalicharan Patra
Institutionen för neurobiologi, vårdvetenskap och samhälle

kalicharan.patra@ki.se