More than $2 million in NIH funding supports analysis of enhanced massive genetics data sets  

An international team of researchers, co-led by Case Western Reserve University, has secured an additional $2 million from the National Institutes of Health (NIH) to advance genetic research in age-related macular degeneration (AMD), the leading cause of visual impairment or blindness in the elderly.

This latest round of NIH funding builds on more than 15 years of work by this research team that has resulted in identifying genes and genetic pathways associated to better manage and treat the condition.

The project team is co-led by Jonathan L. Haines, chair of the Department of Population and Quantitative Health Sciences at the Case Western Reserve University School of Medicine. Also serving as co-principal investigators are Margaret Pericak-Vance and Susan Blanton at the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine. Iris Heid at the University of Regensburg, Germany, is also on the leadership team.

“This international consortium demonstrates the power of team science,” said Haines, a founding member of multiple international research associations and founder and director of the Cleveland Institute for Computational Biology. “It includes more than 30 institutions and serves to share genetic information from more than 100,000 people worldwide. This is the scale needed to uncover the genetic architecture of complex diseases. An important focus of this next round of research is on diverse ancestry among subjects for a comprehensive investigation into a condition that knows no geographic boundaries.” 

The prevalence of AMD increases significantly in people older than 60, reaching as high as 30% of people over age 75 worldwide. Other than age, genetic variation is the strongest risk factor for AMD, while smoking and a high-fat diet are also contributing factors.  

The funding from NIH’s National Eye Institute will allow the team to perform detailed genetic analysis on data assembled by the International AMD Genomics Consortium (IAMDGC), which has built its vast data set over nine years. This scale is essential in uncovering novel gene locations or pathways, given the complexity of the disease and the number of contributing genetic variables.  

Additionally, the study will draw on descriptive data, including environmental and behavioral risk factors, which is highly unusual given the complexities of using a wide variety of clinical notes and/or electronic health records from so many contributing organizations.

As with all research that Haines leads, the consortium will focus on diversity among study subjects. The team will perform the first trans-ethnic analysis of AMD, drawing on data from subjects with ancestries other than Northern/Western Europeans. The existing and new samples include participants from African American, Hispanic and East Asian populations. Some of the additional subject samples are acquired from ongoing recruitment efforts and from new research institutions that are continuously joining the IAMDGC and incorporating their data into the collection.  


For more information about AMD research and/or the specifics of this effort, contact Paula Darte at Paula.Darte@case.edu or 216.870.6323.