crest program update. the story… “one in a billion” – genomic medicine discovers the cause...

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CReST Program Update

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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

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

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

Page 3: 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

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

Page 4: 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

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