Genetic Pathway Research

As discussed in previous sections, there are multiple genes implicated in the development of albinism. Research on the genetic pathways focus on discovering new novel mutations. One new mutation that was discovered in the OCA2 gene revealed a 24 bp deletion that led to the loss of eight amino acids in a highly conserved region of the P-protein 31. The mutation is in a highly conserved region which indicates a functional importance and loss 31.

Gene Therapy Research

As discussed in previous sections, gene therapy is a promising frontier in treatment for albinism 29. Researchers developed a way of delivering and expressing a functional TYR  29 .  Another recent breakthrough in treating albinism is the development of a stem cell model to study eye conditions related to OCA 32. Skin cells from individuals with OCA were taken and induced into pluripotent stem cells before they were differentiated into retinal pigment epithelium cells 32. This is promising as it will allow researchers a closer look into the development of albinism and allow them to manipulate variables more closely in researching new ways to treat eye conditions associated with albinism 32. 

Animal Model Research