Lecture9DownSyndrome_000

Lecture9DownSyndrome_000 - Lecture 9 1 Hemophilia current...

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Lecture 9 1. Hemophilia: current and emerging treatments 2. Down syndrome: symptoms and causes 3. Studying DS in order to find a treatment
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Source’and’more’info:’ h0p://www.ncbi.nlm.nih.gov/ books/NBK22589/’ Hemophilia A Hemophilia B Blue: inactive clotting factor Orange: activated clotting factor Green: stimulatory clotting factor (not an enzyme) Also a serine protease
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Management of Hemophilia Standard care: replacement of the deficient factor with recombinant Factor VIII (Hemophilia A) or IX (Hemophilia B), produced from Chinese hamster ovary cultured cells Factor replacement therapy has increased life expectancy from an average of 11 years before 1960s to about 65 years today. Commercially produced factor concentrates such as "Advate", a recombinant Factor VIII produced by Baxter International , come as a white powder in a vial which must be mixed with sterile water prior to intravenous injection. Wikipedia
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Gene therapy for Hemophilia B http://www.nytimes.com/2011/12/11/health/research/hemophilia- b-gene-therapy-breakthrough.html?_r=0 The coding sequence for Factor IX was inserted into Adeno-associated viral vector (AAV). AAV’s are non-pathogenic human viruses, ssDNA genome of 4.7 kb AAV8 strain infects specifically liver cells. Factor IX was placed under liver-specific promoter 6 adult males with Hemophilia B were treated Reported levels of Factor IX 1-6% of the normal
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Banding patterns on human mitotic chomosomes Giemsa stain: regions of condensed chomatin (darker - G bands) and less condensed chromatin (lighter - R bands) human’chromosome’4’at’varying’resoluEons’due’to’exact’mitoEc’stage,’(or’ degrees’of’spreading’-’squashing’-’stretching)’
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Lecture9DownSyndrome_000 - Lecture 9 1 Hemophilia current...

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