Problemen Van Klinische Genetica, Verloskunde, Pediatrie En Adolescentie
Summary
Samenvatting genetica (hoorcolleges, klinische lessen en PGO's)
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Course
Problemen Van Klinische Genetica, Verloskunde, Pediatrie En Adolescentie
Institution
Universiteit Gent (UGent)
Dit document omvat alle info uit de les en de PPT. Ook de klinische lessen en PGO's zijn hierin opgenomen.
Als je tight budget bent, kan je mij een prive berichtje sturen op messenger (Liana Kirkov) en dan regelen we iets :)
, 10.4.1 Genetica trombofilie ..................................................................................................... 52
10.4.2 Suggestieve teken vr erfelijke vormen v trombofilie .................................................... 52
10.4.3 Testen vr erfelijke trombofilie: wie, wanneer en waarom? .......................................... 52
10.5 Dyslipidemieën ...................................................................................................................... 53
10.5.1 Familiale hypercholesterolemie .................................................................................... 53
A. Genetica FH genen: LOF en GOF ....................................................................................... 53
B. Diagnose FH ....................................................................................................................... 53
C. Behandeling FH.................................................................................................................. 53
10.5.2 Familiale hypertriglyceridemieën .................................................................................. 54
A. Familiaal chylomicronemie syndroom .............................................................................. 54
B. Secundaire hypertriglyceridemie ...................................................................................... 54
10.6 Diabetes: MODY .................................................................................................................... 55
10.6.1 Diabetes mellitus type 1 ................................................................................................ 55
10.6.2 Diabetes mellitus type 2 ................................................................................................ 55
10.6.3 Maturity-onset diabetes of the young (MODY)............................................................. 55
11. Gentherapie............................................................................................................................... 56
11.1 Duchenne Muscular Dystrophy (DMD) ................................................................................. 56
11.1.1 Genetische ahtergrond Duchenne ................................................................................ 57
11.1.2 Therapeutische mogelijkheden DMD ............................................................................ 57
A. Read-through therapie: Ataluren (TranslarnaTM) ............................................................ 57
B. AON-gemedieerde exon skipping therapie ....................................................................... 58
C. Vector-gemedieerde gentherapie ..................................................................................... 59
D. Genome editing ................................................................................................................. 59
11.2 Spinale Musculaire Dystrofie (SMA) ...................................................................................... 59
11.3 Retinale dystrophieën ........................................................................................................... 59
11.3.1 Leber Congenital Amaurosis (LCA) ................................................................................ 60
A. RPE65-LCA (LCA2) .............................................................................................................. 60
B. CEP290-LCA (LCA10) .......................................................................................................... 60
11.4 CRISPR/cas9: genome editing................................................................................................ 61
11.4.1 Werking CRISPER/Cas .................................................................................................... 61
11.4.2 Barrières CRISPR/Cas9 ................................................................................................... 61
11.5 Genetische dienstverlening in België .................................................................................... 62
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