Warren symposium follows legacy of geneticist giant

If we want to understand how the brain creates memories, and how genetic disorders distort the brain’s machinery, then the fragile X gene is an ideal place to start. That’s why the Stephen T. Warren Memorial Symposium, taking place November 28-29 at Emory, will be a significant event for those interested in neuroscience and genetics. Stephen T. Warren, 1953-2021 Warren, the founding chair of Emory’s Department of Human Genetics, led an international team that discovered Read more

Mutations in V-ATPase proton pump implicated in epilepsy syndrome

Why and how disrupting V-ATPase function leads to epilepsy, researchers are just starting to figure Read more

Tracing the start of COVID-19 in GA

At a time when COVID-19 appears to be receding in much of Georgia, it’s worth revisiting the start of the pandemic in early 2020. Emory virologist Anne Piantadosi and colleagues have a paper in Viral Evolution on the earliest SARS-CoV-2 genetic sequences detected in Georgia. Analyzing relationships between those virus sequences and samples from other states and countries can give us an idea about where the first COVID-19 infections in Georgia came from. We can draw Read more

retinoblastoma

Finding success in retinoblastoma treatment

The idea of your child having an eye removed is shocking, an extremely difficult thing for a parent to cope with, says Baker Hubbard, MD, Thomas M. Aaberg Professor of Ophthalmology, and a pediatric ocular oncologist. Actually, says Hubbard, most children who lose an eye adapt very well and enjoy essentially normal lives.

Baker Hubbard, MD

Retinoblastoma is cancer that forms in the tissues of the retina (the light-sensitive layers of nerve tissue at the back of the eye). Retinoblastoma usually occurs in children younger than age five. It may be hereditary or nonhereditary (sporadic), and is caused by mutations in genes.

To six-year-old Emilia McKibbin, having a prosthetic eye is no big deal. She knows to protect it—wearing her glasses for school and playtime, donning a scuba mask at the beach—but it doesn’t limit her choices.

Following her interests, Emilia has earned a gold belt in karate. She’s learning gymnastics. She swims. She loves to romp with Daisy, her black cocker spaniel. And while most people don’t even notice that one of this little girl’s shining dark-brown eyes is different from the other, Emilia shares her story with a few. “I tell my teachers and my friends that I have a special eye,” she says.

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Eye diseases and immune system link studied

Drawing shows areas of the eye

Emory Eye Center researchers are looking at the role of the immune system in the inflammation of the eye and the progression of eye diseases.

Santa Ono, PhD, professor of ophthalmology, Emory School of Medicine and researcher at the Emory Eye Center, and Emory senior vice provost for undergraduate education and academic affairs, and his team at the R. Howard Dobbs Jr. Ocular Immunology Lab, focus on the immune component of age-related macular degeneration (AMD), ocular cancer (melanoma and retinoblastoma) and ocular inflammation.

Santa J. Ono, PhD

Macular degeneration is the leading cause of sight impairment and blindness in older people. The macula, in the center of the retina, is the portion of the eye that allows for the perception of fine detail. AMD gradually destroys a person’s central vision, ultimately preventing reading, driving, and seeing objects clearly

In a recent article of Emory Magazine, Ono, an ocular immunologist, says, “If a person with AMD looks at graph paper, some of the lines will be wavy instead of straight. Certain parts of the image are no longer being transferred to the brain.”

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