A Cure in Sight

When I was a little kid I wanted a dog. Not just any dog. It had to be a purebred Old English Sheepdog. There was something irresistible about this big, shaggy dog with its eyes concealed by a jungle of long gray and white hair. I had to have one. I pestered my parents until one day, my mother told me what an eight-year-old couldn’t have known. We couldn’t afford it. Instead, my parents took me to the pound to look for a dog we could afford. I was grumpy as we moved from cage to cage. Each dog was cute, but it wasn’t an Old English Sheepdog. Then I saw Lady. She wasn’t a sheepdog, but she was shaggy, and she had the most trusting brown eyes I had ever seen. I fell in love.

At home, she was the perfect pet. She licked me awake every morning and followed me to the door when I left for school. When I returned home, she was always waiting. She had become a member of our family, and we all loved her. Then, one day a few years later, her right eye began to ooze and she was in real pain. We took her to the veterinarian and were shocked to learn that she had glaucoma. A fluid called aqueous humor was building up in her eye causing increased pressure that damaged her optic nerve. She required immediate treatment or she would go blind in that eye. The vet prescribed three medications including xalatan, a drug also used to treat glaucoma in humans. If these drugs could reduce the pressure in her eye, they could save her vision. For more than two years, we followed a strict regimen of treatment; we administered her medicines three times a day and never missed a dose. In time, we began to feel confident that these drugs would save her eye. Then, suddenly, they began to fail. In a few weeks, Lady went blind in her right eye, and it had to be removed. I was devastated, but that was nothing compared to how I felt when the vet said that Lady could develop glaucoma in her other eye and go completely blind. However, she added, we should be optimistic because there was plenty of research being done on glaucoma.

She was right. When I began to look into it, what surprised me was that much of the research was conducted using animals. In fact, xalatan was developed through research with rabbits and monkeys. This research proved that xalatan lowers intraocular pressure by increasing the drainage of fluid. It has been particularly beneficial to the 70 million people suffering from glaucoma.

Currently, reducing pressure in the eye is the primary therapy for glaucoma. However, there are exciting new possibilities as researchers are now expanding their approaches. For example, scientists at Duke University are testing a number of new methods to control this disease. Dr. Pedro Gonzalez is genetically altering pig eyes and then testing the drainage of fluid. His main focus is to find ways to prevent damage to the drainage cells caused by oxygen or oxidative stress. Dr. Stuart McKinnon is trying another approach. He hopes to protect ganglion cells of the optic nerve so that they won’t be damaged even if pressure does increase. He is using viruses to deliver protein-producing genes to protect these cells in the eyes of rodents. Another Duke scientist, Dr. Vasanth Rao, if focusing on the cytoskeleton of cells around the fluid drain. He is using pig eyes to find molecules in these cells that he can target with drugs to increase the drainage of aqueous humor. Their colleague, Dr. Rand Allingham, is taking a different direction; he is concentrating on the genetic factors that cause susceptibility to glaucoma hoping that early detection can lead to preventative treatment.

While this work continues at Duke, the AKC Canine Health Foundation is currently doing glaucoma research that focuses on dogs. The foundation collected DNA samples from various breeds and is using them along with gene-mapping technologies to search for the positions of mutations that cause glaucoma. If successful, they intend to give DNA tests to trainers of these breeds and to find out if the same genes in other breeds also have the glaucoma-causing mutations.

All of this research has given me hope. If one day Lady does develop glaucoma in her good eye, one of these scientists may come up with a way to save her sight.

Behavioral Genetics Lab at Barrow Neurological Institute

This summer I worked in the Behavioral Genetics lab at Barrow Neurological Institute doing epilepsy research.  I have to say that when I started my internship I was very anxious.  I watched other more experienced interns doing protein isolation, RC/DC assays, and Bradford assays, not to mention 2-dimensional gel electrophoresis to analyze protein expression and western blots to identify specific proteins.   It all seemed so complicated and I was sure that I would never be able to do it.

But I was wrong.   I was soon working alongside these interns doing all of the procedures, and more importantly, understanding them.  I initially began learning various lab techniques in the Neuro-Oncology lab, and then started a research project on epilepsy with interns in my own lab.  Our project was a study of knock-out mice that were missing a potassium channel gene, KCNA1, and as a result, experienced recurrent epileptic seizures. We compared brain tissue of wild type, heterozygous, and homozygous (knock-out) mice to find differences in protein expression that would show a link between the absent gene and early seizure development, as well as a possible relationship between this gene and other genes. 

What was particularly exciting about our research was that it was not just an educational exercise, but was part of an original, ongoing study of epilepsy. I was actually in the real world of research. So real, in fact, it is possible that in the future I might even be able to contribute to a research paper on the findings of this study.  What made my experience at Barrow even more rewarding were the people. I was working with other high school students who shared my interests and enthusiasm.  That was exciting. Some of us were total strangers when we met, but it didn’t take us long to get to know each other and really start to work together as a unit.  A number of these interns had been working at Barrow for a while and already knew the ropes. They were all so willing to share what they knew and to help me catch up to the point where I felt at home. I really appreciated their generosity. 

I particularly want to thank Dr. Lucy Treiman and Dr. Adrienne Scheck for their guidance and support.  Working at Barrow was a rare opportunity for a 17-year-old. It gave me a real feel for what I hope will turn out to be my future career. I am looking forward to continuing our project in the fall and throughout the next year.

Finally, I want to thank SwAEBR for making all of this possible.