Related Experiment Video
Updated: Dec 31, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A brief history of human disease genetics
Melina Claussnitzer1,2,3, Judy H Cho4,5,6, Rory Collins7,8
1Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Abstract:
A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance
Animal Mitochondrial Genetics
Pedigree Analysis
Single Nucleotide Polymorphisms-SNPs

