Momentum

The National Institutes of Health awarded geneticists Amit Singh and Madhuri Kango-Singh a five-year, $1.65 million grant to understand the genetic basis of childhood retinal diseases and birth defects in the human eye.

The current investigation builds on an earlier research project, funded under a $485,000 NIH grant, in which Singh studied how genes transform a single layer of cells into a three-dimensional organ. Now the research will be expanded to examine the genetic machinery involved in regulating how an eye is formed at the cellular level.

When eyes are developing, they need to grow to the right size, contain the right features and functionality, and be located in the right place on the head. When cells do not generate properly, it can result in birth defects, cancer and other diseases, explained Kango-Singh.

This study explores birth defects associated with a particular transcription factor — a protein involved in the controlling expression of other genes.

"In layman's language, eyes are not the same on all organisms; they are placed far apart or close together," said Singh. "We have hypothesized that this transcription factor might be involved in the eye's placement and growth."

Fruit fly genes are similar to those of humans, which allows researchers to model defects and study growth at an accelerated pace.

"The life cycle of the fly is 12 days, so you can see two generations of fly life in a month's time," Singh said. "Whereas if you are a geneticist dealing with human disease and looking into a human population and trying to see how it is translated from one generation to the next, in your lifetime you can just see three generations. Working with flies, it looks like you're watching a long movie on fast forward, and the information generated here can be extrapolated to humans."

To support their investigation, Singh and Kango-Singh will each hire a postdoctoral researcher and two graduate assistants to work in their respective labs. In addition, between 12 and 16 undergraduates will work on the project.

"One of the pillars of UD's vision is experiential learning for undergraduate students," Singh said. "We actively involve these students in our research. They are primary authors on peer-reviewed publications. They present at local, regional and international meetings."

Singh and Kango-Singh published the second edition of Molecular Genetics of Axial Patterning, Growth and Disease in Drosophila Eye in May 2020. Singh also is editor of Mouse Genetics: Methods in Molecular Biology, which was published in February 2021.