Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics
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Presenting Author - Samantha Baxter, MS, CGC; Co-Author - Moriel Singer-Berk, MS; Co-Author - Kathryn Russell, BS; Co-Author - Emily Groopman, MD, PhD; Co-Author - Nick Watts, MS; Co-Author - Michael Wilson, BS; Co-Author - Jordan C. Wood, BS; Co-Author - Heidi L. Rehm, PhD; Co-Author - Anne O'Donnell-Luria, MD, PhD;
Meta Tag
Exome sequencing
Genetic Diversity
Genome sequencing
Population Genetics
Public Patient and Professional Education
Co-Author Moriel Singer-Berk, MS
Co-Author Kathryn Russell, BS
Co-Author Emily Groopman, MD, PhD
Co-Author Nick Watts, MS
Co-Author Michael Wilson, BS
Co-Author Jordan C. Wood, BS
Co-Author Heidi L. Rehm, PhD
Co-Author Anne O'Donnell-Luria, MD, PhD
Presenting Author Samantha Baxter, MS, CGC
Keywords
disease prevalence
rare recessive genetic disorders
variant databases
prevalence estimation
advocacy groups
therapy development
gnomAD
allele frequencies
Hardy-Weinberg principles
functional studies

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