Eli Sprecher, MD PhD,
Director Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
Dr. Dina Ron
Department  of Biology, Technion-Israel Institute of Technology, Haifa, Israel

Dr. Eli Sprecher

Dr. Eli Sprecher and his colleague Dr. Dina Ron will be investigating the role of a small protein molecule in the physiological pathway that is important to normal skin development and function.  Drs. Sprecher and Ron’s project relates to the mission of the Foundation and the interests of our members because: “The data gleaned in the course of this research are expected to establish, for the first time, the importance of SNAP29 during epidermal differentiation and to shed light on its specific roles during this process.  Establishing the role of SNAP29 during cornification may point to possible use of SNAP29 as a diagnostic marker as well as a therapeutic target for a number of inherited and acquired disorders of cornification.”

UPDATE SEPTEMBER 2007
Drs. Sprecher and Ron are investigating the role of SNAP29 during normal and pathological skin differentiation.  These investigators discovered two years ago that SNAP29 is a small protein involved in vesicle trafficking within cells of the upper layers of the skin.  They have characterized the involvement of a protein related to SNAP29, VPS33B, in the pathogenesis of a complex type of ichthyosis called ARC syndrome.  They have characterized the pattern of expression of SNAP29 in keratinocyte monolayers and in 3D-organotypic cultures, demonstrating that agents triggering skin maturation also induce SNAP 29 expression.  They have generated cell lines lacking SNAP29, with which they intend to further dissect out the role of SNAP29 in the formation of the skin barrier.  Finally, they have delineated the expression of SNAP29 in a number of skin diseases, finding out that SNAP29 expression is lost in squamous cell carcinoma and in many cases of lamellar ichthyosis.

CEDNIK Syndrome Results from Loss-of-Function Mutations in SNAP-29
British Association of Dermatologists (2011) 164, 610-616