Leber Congenital Amaurosis (LCA) is an inherited retinal disease leading to severe vision impairment from early infancy, affecting 2-3 out of every 100,000 newborns. LCA is caused by variants in certain genes from which proteins essential for retinal cell function and survival are made. Mutations in over 20 different genes can cause LCA and in each of those genes, hundreds of different changes, known as genetic variants, can occur.  Importantly, while some of these genetic variants are benign and do not compromise function, other variants cause dysfunction or complete loss of function. Further, for some of these variants, which are called variants of uncertain significance (VUS), it is currently not known if they are disease causing or benign. 

Platelets are small, disc-shaped cell fragments in the blood that are essential to stop bleeding and to initiate blood clotting after injury. Platelet transfusions in patients with severe trauma or medical conditions, including bone marrow disease, leukemia, or sepsis, can be lifesaving. Despite being a standard clinical practice, platelet transfusions face issues related to the availability of blood donations from which platelets are isolated, the relatively short shelf life of purified platelets, and the risk of an immune response in patients receiving platelets from unmatched donors.

Type 1 diabetes is caused by an insufficient production of the hormone insulin by cells in the pancreas called beta cells and estimated to affect 9.5 million people worldwide. Low insulin levels allow glucose levels to remain elevated, which in the long term can damage organs such as the kidneys, the eyes, and the cardiovascular system. People with diabetes require lifelong monitoring of blood sugar levels coupled with insulin injections to keep blood sugar levels at a stable, healthy level.

A potential new treatment option for those patients is the replacement of lost or dysfunctional pancreatic beta cells, either by cell transplantation, or by the generation of new beta cells from existing cells within the body. This latter strategy was pursued by the team of Xiaofeng Huang from Weill Cornell Medicine, USA and Qing Xia from Peking University, China who previously discovered that cells in the mouse stomach can be transformed into pancreatic beta cells by genetic engineering.