National Institute of Arthritis and Musculoskeletal and Skin Diseases 5R01AR083978-02

Leveraging human musculoskeletal development to identify causal disease variants

NIH grant awarded to Harvard University to study genetic and regulatory factors in human musculoskeletal development, aiming to identify disease-causing variants and validate their functional impacts.

Description

This project aims to fill the knowledge gap regarding the genes and regulatory regions that control skeletal morphology differences between humans and mice. It involves targeted studies on the human fetal skeleton using advanced genomic techniques such as single cell multiomics and spatial transcriptomics to map gene expression and regulatory elements across major joints. The research will generate comprehensive transcriptomic and epigenomic maps, identify causal genetic variants associated with skeletal diseases like hip dysplasia and osteoarthritis, and test their functional impacts using high-throughput reporter assays.

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