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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Genetics, medicine, and the Plain people
Kevin A Strauss1, Erik G Puffenberger
1Clinic for Special Children, Strasburg, Pennsylvania 17579, USA. kstrauss@clinicforspecialchildren.org
Annual Review of Genomics and Human Genetics
|July 28, 2009
Summary
Genetic studies in Pennsylvania
Area of Science:
- Population genetics
- Genomic medicine
- Human biology
Background:
- Old Order Amish and Mennonite populations in Pennsylvania trace ancestry to Swiss Anabaptist immigrants.
- These endogamous communities exhibit distinct genetic profiles due to unique founders.
- Their biological and social characteristics are well-suited for population genetics and genomic medicine research.
Purpose of the Study:
- To leverage advances in genomic science within Plain populations.
- To integrate modern molecular genetic technologies into clinical practice.
- To explore the utility of population-specific genetic knowledge in healthcare.
Main Methods:
- Utilizing newer molecular genetic technologies in a rural pediatric setting.
- Conducting investigational studies within Pennsylvania's Plain communities.
- Analyzing genetic data to understand allele frequencies and disease spectra.
Main Results:
- Demonstrated successful integration of advanced genetic tools in a clinical environment.
- Identified dissimilar allele frequencies and disease spectra across different demes.
- Established the value of population-specific genetic insights.
Conclusions:
- Population-specific genetic knowledge offers a robust framework for disease prevention.
- Genomic insights can lead to reduced healthcare costs.
- Studies in these communities yield novel understandings of human biology.
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