Research project TTC7A deficiency

Mechanistic and pharmacological studies of TTC7A deficiency

Understanding the etiology of primary immunological disease is necessary to understand steps to be taken in designing therapeutic intervention. Knowing whether the genetic defect undermining the immune system is also causing a multi-systemic defects is essential in deciding whether hematopoietic stem cell transplant could be effective in curing the disease. We here propose a study based on molecular characterization of cellular events and chemical perturbation to decipher mechanistic defects caused by disruptive genetic mutations in Tetratricopeptide repeat (TPR) domain 7 (TTC7A) and design targeted therapeutics.