crest program update. the story… “one in a billion” – genomic medicine discovers the cause...
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![Page 1: CReST Program Update. The Story… “One in a billion” – genomic medicine discovers the cause of a young boy’s disease Howard Jacobs, PhD Human Molecular](https://reader035.vdocument.in/reader035/viewer/2022072016/56649ee75503460f94bf7e8c/html5/thumbnails/1.jpg)
CReST Program Update
![Page 2: CReST Program Update. The Story… “One in a billion” – genomic medicine discovers the cause of a young boy’s disease Howard Jacobs, PhD Human Molecular](https://reader035.vdocument.in/reader035/viewer/2022072016/56649ee75503460f94bf7e8c/html5/thumbnails/2.jpg)
The Story…
“One in a billion” – genomic medicine discovers the cause of a young boy’s disease
• Howard Jacobs, PhDHuman Molecular Genetics Center, Medical College of Wisconsin
• X-linked Inhibitor of Apoptosis (XIAP)
• Cysteine-aspartic acid proteases (caspases)
• XIAP and initiator caspase 9
biochemistry: structure and protein interactions
genetics: effect of mutations in XIAP
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How students approach the story…
Fall semester: integrated into two courses
• Biochemistry (Heather Mernitz) Previous CReST student introduced XIAP/caspase Model system for core concepts Capstone project: Student teams investigated one of
three pathways in detail
• Genetics (Carl Ball) Genomics of “One in a Billion” Capstone project: One student team investigated an
genetic disorder in XIAP gene
• Capstone: Public joint poster session
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How students approach the story…
Spring semester: independent study• Tina Jesulin, Sara Klosiewski, Phaya Lem, Jessica Weiss
Build on foundation from course work• Goal: model illustrating XIAP function
Biochemical principles Genetic variants
• Research XIAP literature
• Selected problem – see their poster