Course Code :2030FBDBIC
Study domain:Biochemistry
Academic year:2018-2019
Semester:2nd semester
Contact hours:30
Study load (hours):84
Contract restrictions: Exam contract not possible
Language of instruction:Dutch
Exam period:exam in the 2nd semester
Lecturer(s)Peter De Jonghe

3. Course contents *

Molecular genetics offers important tools to study inherited disorders of the central and peripheral nervous system. In this course students learn to “dissect” an inherited neurological disorder in disease mechanisms and impaired cellular pathways starting from the clinical, neuropathologic and genetic characteristics of a disorder. Several inherited neurological disorders are discussed illustrating the major pathomechanisms such as triplet repeat expansions, mitochondrial disorders, autosomal recessive disorders, X-linked dystrophinopathies …  The disease mechanisms may be obvious from the known gene function in case of loss-of-function mutations but can be very elusive in case of toxic gain-of-function mutations. Emphasis is put on the identification of disease mechanisms that may constitute targets for therapeutic interventions. Issues as diagnostic testing and ethics of testing and therapeutic intervention are discussed. The study of the inherited neurological disorders is put in its broader context since most of the inherited neurological disorders have poorly understood acquired counterparts that are often more prevalent.