Imagine a genetic conversation that led to a set of nearly 20, 000 blind youngsters with the filamentous condition called lenticulodystroplasia complex, now known as LCCD. These blind children have a mutation in the RAS gene, which is targeted by the drug kinase inhibitor nivolumab, which for the most part is known to combat leukemia. However, the genetic differences between these blind children and healthy young ones, perhaps 8 in a million and 7. 7 different candidate mutations, preclude finding a clinically meaningful substitute.
That’s the scenario faced by Aritra Gopalanik, Ph. D., Deputy Director of Education at Doebele Children’s Center, who directs the Eduard Protoparent Project, a group of individuals devoted to the success of disadvantaged children. Gopalanik, a member of the Cass Business School, is leading a team that has collected genetic data related to 7, 000 children without LCCD. Her work could be used to help in case of LCCD.
What’s provocatively striking is that half of the children under 16 with LCCD have a mutation in the RAS gene. This nod-curious group includes the children who have lost both parents to leukemias, and the dogs. Their responses to nivolumab or other cancer therapeutics must be evaluated separately from those of healthy children. Although LCCD is uncommon, the researchers noted wonderful results in Burmese, Sudanese, and American children with the disorder, including dogs, who also had mutations in RAS. Gopalanik’s research team has been granted a grant from the FOUNDER at National Institutes of Health to begin developing a high-throughput system or a high-throughput test to place the accuracy of the ‘more promising’ candidates against that of the exposed children.
“What I’m interested in is how to help these kids, ” said Gopalanik. “I know they’ve lost a lot, but we could use this to address HIV/AIDS, and that lack of immune recognition. I want to use clinical trials for these kids and to help them become a much bigger part of the system. ”
The researchers, including Gopalanik and Mendel Sabio, Ph. D., Director of the Doebele Children’s Center (CSC) at Mount Sinai; Assoc. Professor at Moody Medical College and Director of the Center for Gene Sequencing (CTS), a facility in New York City; and Prof. and Director of the New York Academy of Sciences, have the hope of enlisting the professional support of multidrug-resistant patients while also getting a more immediate claim of reprogrammed immune cells for transplantation.
They also want to put more data out in the hope of improving the lives of vulnerable children.
“It just requires doing studies in these affected children and collecting it organically, ” said Gopalanik.