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Mendelian disease Archives

EHRs, biobanks and Mendelian diseases

Apr. 30, 2020—Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.

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Vanderbilt-led team discovers new genetic disease and defines underlying mechanism

Jan. 13, 2020—An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms.

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Gregor Mendel would be proud

Dec. 12, 2019—A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do.

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Recent Stories from VUMC News and Communications Publications

Betsy Williams has firsthand advice for parents on the fence about whether their adolescent children should be vaccinated for the common human papilloma virus (HPV), which can lead to six types of cancer.  Don’t hesitate. Do it.

Momentum

Betsy Williams has firsthand advice for parents on the fence about whether their adolescent children should be vaccinated for the common human papilloma virus (HPV), which can lead to six types of cancer. Don’t hesitate. Do it.

Keeping pace: Nashville, once a mid-size city with a Southern small-town feel, is experiencing explosive growth.

Vanderbilt Medicine

Keeping pace: Nashville, once a mid-size city with a Southern small-town feel, is experiencing explosive growth.

VUMC campus

VUMC campus

Vanderbilt University School of Medicine entrance

Vanderbilt University School of Medicine entrance

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