News & Research

    Massachusetts Eye and Ear Infirmary, Boston, Massachusetts

Admixture mapping to discover diabetic retinopathy genes in African Americans

General Research Subject: Type 2 Diabetes

Focus: Complications\Ocular, Epidemiology, Genetics\Type 2 Diabetes

Type of Grant: Clinical Translational Research

Project Start Date: January 1, 2011

Project End Date: December 31, 2013

Diabetes Type: Type 2 diabetes

Research Description

Some studies have shown that African Americans with type 2 diabetes develop a specific type of damage to their eyes from diabetes (diabetic retinopathy) more often than Americans of European backgrounds.  Differences in blood sugar control do not explain this difference entirely.  Genetic differences may play a role in determining African Americans' higher risk for diabetic retinopathy.  The purpose of this study is to determine the environmental and genetic risk factors for diabetic retinopathy in African Americans with type 2 diabetes.  Study participants will have pictures taken of their eyes which will be reviewed by eye doctors to determine whether they have retinopathy.  A medical history and blood sample will also be obtained from each participant.  Participants who have retinopathy will be compared to participants who do not have retinopathy with regards to several risk factors including blood sugar control.  The investigators will analyze the participants' blood samples, along with blood samples from other African Americans with type 2 diabetes that have been collected previously as a part of other studies, using a special technique called admixture mapping to see if there are any gene mutations that are associated with retinopathy. If genes are discovered to be associated with retinopathy, this study could increase the understanding of how retinopathy develops and lead to new treatments.  In addition, the information from this study could be used to counsel African American patients regarding their risk of retinopathy and what steps they can take to prevent vision loss.

Research Profile

What area of diabetes research does your project cover?  What role will this particular project play in preventing, treating and/or curing diabetes?

My project covers diabetic retinopathy.  The purpose of this study is to determine the environmental and genetic risk factors for diabetic retinopathy in African Americans with type 2 diabetes.  If genes are discovered to be associated with retinopathy, this study could increase the understanding of how retinopathy develops and lead to new treatments.  In addition, the information from this study could be used to counsel African American patients regarding their risk of retinopathy and what steps they can take to prevent vision loss.

If a person with diabetes were to ask you how your project will help them in the future, how would you respond? 

Diabetic retinopathy is a common complication of diabetes; the majority of diabetics will have retinopathy if they have diabetes for greater than twenty years.  Our project aims at finding genes that are associated with diabetic retinopathy.  Once we learn what genes are associated with retinopathy, we will increase our knowledge of why retinopathy develops.  We can use this knowledge to create new treatments for retinopathy that will prevent blindness.  We may also be able to make better decisions based on your genetic profile about how closely your eye doctor needs to follow you for retinopathy and what the best treatment treatments are for you specifically if you develop retinopathy.

Why is it important for you, personally, to become involved in diabetes research?  What role will this award play in your research efforts?

As a retina specialist who treats patients with diabetic retinopathy, I have seen the devastating effects of this disease and the severe vision loss it can cause.  Patients sometimes lose vision despite our best efforts and the availability of the most up-to-date treatments.  Through my research, I would like to contribute to better treatments and diagnosis for all patients with this disease.  This award is key to my research efforts.  Up to this point, I have been able to collect preliminary data regarding the role of genetics in diabetic retinopathy in African Americans.  With this additional funding from the ADA, I will be able to expand this project and increase the chances of discovering genes associated with diabetic retinopathy.

In what direction do you see the future of diabetes research going? 

I see research for diabetic retinopathy becoming an increasingly collaborative process among investigators in the field.  With better understanding of human genetic variation and ever-evolving tools to explore the implications for such variation in disease, it will be necessary for scientists to come together and share data so that study populations are large enough to yield novel discoveries using these tools.  I also envision incorporating genetic information into clinical trials of diabetic retinopathy to determine if genetic make-up can influence the response to treatment.