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The laboratory of Molecular Dermatology is part of the Division of Dermatology and aims at serving as a bridge between medical and basic science through the study of the genetic basis of skin disorders. Over the past years, these efforts have led to the discovery of the molecular basis of more than 25 different genetic conditions.

The deciphering of the molecular basis of a monogenic disorder invariably reveals a novel pathway whose importance is exemplified by the disease resulting from its malfunction. Accordingly, over the years we have uncovered a number of novel biochemical pathways of importance for the physiology of the skin and other organs including kidney, eye and central nervous system. Once the function of a novel gene product is established, this new knowledge can be translated in the form of new treatments for rare and more common diseases alike.

Oscillating between bedside and the bench, our research program is substantiating a major goal of our division, the integration of research and clinical care to the benefit of our patients. Our research program's main objectives are:

  • Delineation of the genetic basis of inherited skin disorders using advance next generation sequencing methodologies and a palette of analytical tools.

  • Systematic investigation of the function of novel genes found to be associated with inherited skin diseases using humanized models such as three-dimensional artificial skin equivalents, hair organ cultures and chimeric mice.

  • Translation of this new knowledge into treatments for rare and more common diseases using engineered reporter cell lines and robotic small molecule library screening followed by in vitro and in vivo validation of relevant hits.


Examples for translational projects:

We have found that aminoglycosides promote read-through across a nonsense mutation responsible for a rare form of congenital hair loss. We have subsequently showed that topical gentamycin can foster hair growth in patients affected with this condition (Peled et al. Br J Dermatol).

Based on a similar paradigm we are also investigating the genetic basis of complex skin traits including psoriasis and pemphigus, a dreadful autoimmune disorder associated with 90% mortality if left untreated. We have revealed a new pathway associated with an increased risk for pemphigus (Vodo et al. PLoS Genet.; Assaf et al. Br J Dermatol.; Assaf et al. Sci Rep.) and are now attempting at exploiting this discovery to develop novel approaches to the management of this condition. Through the study of inherited disorders featuring cutaneous inflammation, we have similarly identified small molecules of therapeutic potential in psoriasis.

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