Tuberous Sclerosis Complex disease (TSC)
TSC is a multi-organ disease involving mainly the skin, brain, kidney, heart as well as other organs
The disease is an autosomal dominant with an incidence of up to 1:5,000 live births. 80% of the cases involve de-novo mutations.
Mutations in TSC1 (20%) or TSC2 (80%) lead to formation of hamartomas in different organs and cause seizures, communication disorders, heart lesions as well as kidney disease
Up to 80% of the patients have kidney disease, comprised mainly AML (angiomyolipoma) with high bleeding risk
Cystic kidney disease is a main hallmark of the kidney disease. A loss of functional kidney disease leads eventually to chronic kidney disease and possible need of dialysis and kidney transplantation. The disease does not respond well the current available medical therapy
Thanks to a research grant from the Israeli Science Foundation, our lab team is working on finding a treatment for the kidney disease of TSC by finding novel mechanisms underlie cyst formation in this population