Figure 1
From: A generalizable pre-clinical research approach for orphan disease therapy
Normalizing the pathogenic imbalance. Protein levels and/or activity outside of the physiological normal range usually underlie a monogenic disease. Therapeutic approaches may involve normalizing this imbalance by enhancing the mRNA, protein, or protein activity in disorders caused by LOF mutations and moderating the mRNA, protein, or protein function excess observed in GOF mutations.