Hereditary disease in patient-derived cells effectively fixed by DNA repair-kit

With a potentially game-changing DNA repair kit, genetic mutations, which cause an incapacitating hereditary kidney disease affecting young adults and children, have been fixed in patient-derived kidney cells.

In this study, it was described how the international team had, to fix faulty podocin genetically, created a DNA repair vehicle. Podocin is a common genetic source of hereditary Steroid Resistant Nephrotic Syndrome (SRNS).

Podocin is vital for kidney function; it is a protein generally situated on the surface of specialised kidney cells. However, defective podocin never reaches the surface and remains stuck inside the cell, terminally damaging the podocytes. Since medications can’t cure the disease, gene therapy offers hope for patients as it mends the genetic mutations that cause the defective podocin.

The team led by Professor Imre Berger and Dr Francesco Aulicino from Bristol’s School of Biochemistry have, by utilising artificial biology techniques, re-engineered baculovirus, a harmless insect virus which is no longer restricted by sparse cargo capacity.