Benjamin Nanes, MD, PhD

Instructor of Dermatology, UT Southwestern Medical Center, Dallas, TX

Award: $35,000

In epidermolytic ichthyosis, mutations affecting keratin 1 (K1) or keratin (K10) disrupt the keratin mechanical scaffold. Understanding K1/10-specific functions that may not be rescued by other keratin isoforms expressed in epidermis is critical for many potential treatment strategies. This proposal aims to overcome our gaps in understanding if and how these keratins associate with signaling networks to modulate epidermal differentiation and barrier formation, which may reveal entirely novel therapeutic approaches for the wide variety of skin diseases where epidermal architecture is disordered.

One year update September 2024:

Proteins called keratins form scaffolds within skin cells, allowing the skin to resist mechanical stress. Mutations in keratin genes can disrupt this scaffold and cause certain forms of ichthyosis. Our goal is to understand why different keratins are expressed in different layers of the skin, how these different keratins shape cell behavior beyond their mechanical function, and whether ichthyosis-causing mutations also disrupt these non-mechanical functions. We found that different keratin proteins directly contribute to maturation of the skin barrier, and we are currently searching for the molecular interactions underlying this behavior. Understanding the molecular interactions specific to different keratin proteins given us an important window into the molecular signals controlling skin barrier formation and may reveal entirely novel therapeutic targets for ichthyosis and other diseases where the skin barrier is disrupted.

Read Dr. Nanes' complete one year project update here.

Read Dr. Nanes' 6 month project update here.

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