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Genetic Variations in Non-coding Regulatory Regions in Linear Morphea

November 10, 2019 By Mike Siegel

Principal Investigator:

Dawn Eichenfield, MD, PhD
University of California, San Diego

Overview:

Morphea is an inflammatory skin condition leading to hardened, discolored, and ultimately, scarred skin. It has several different presentations. Linear morphea commonly appears in children as a depressed or bound-down line on the forehead or extremity. Exactly why morphea occurs is unknown; however, studies suggest it is caused by a combination of genetic and environmental factors. Our research aims to uncover the genetic causes of linear morphea. Where our study differs from prior studies is the focus on studying parts of the genome that do not code for proteins, but instead are involved in regulating when or how genes are active. It is only recently that we realized the importance and disease relevance of these “non-coding” portions and could feasibly study their effects. Our project will utilize the latest sequencing technologies to investigate genetic mutations in morphea that can lead to improved diagnosis and earlier treatment.

Status:

This study was funded as a 2018 PeDRA Pilot Grant and is currently underway.

Filed Under: Active Studies, Connective Tissue & Autoimmune

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