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CReST Program Update

Discover the remarkable journey of how genomic medicine identified the cause of a young boy's disease linked to mutations in the XIAP gene, a key player in apoptosis regulation. This narrative, integrated into biochemistry and genetics courses, showcases student capstone projects exploring XIAP’s role and its biochemical interactions. Through independent studies, students aimed to create models illustrating XIAP's functions and the impact of genetic variants, highlighting the power of collaborative research in understanding complex genetic disorders.

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CReST Program Update

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  1. CReST Program Update

  2. 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

  3. 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

  4. 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

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