For me this riddle meant just the start of a new journey in uncovering the functionality of molecular genetics in human diseases.
I am interested in getting a better understanding in the functional impact of causative mutations in hereditary proximal tubulopathies, as well as acquired tubular problems.
One of these tubular diseases is called renal Fanconi syndrome. Recently we have found the genetic factor GAPDH that causes renal Fanconi syndrome in several large families, and unravelled the molecular pathology associated with this disease.
Proximal tubular cells are also highly susceptible to damage inflicted in conditions associated with oxygen and nutrient deprivation (OND) that happens for instance during surgeries and transplantation. Damaged proximal tubular cells attract immune cells like macrophages and T-cells, which play an important role in further development of this disease.