‘Genetic doppelgangers:’ Emory research provides insight into two neurological puzzles

An international team led by Emory scientists has gained insight into the pathological mechanisms behind two devastating neurodegenerative diseases. The scientists compared the most common inherited form of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) with a rarer disease called spinocerebellar ataxia type 36 (SCA 36). Both of the diseases are caused by abnormally expanded and strikingly similar DNA repeats. However, ALS progresses quickly, typically killing patients within a year or two, while the disease Read more

Emory launches study on COVID-19 immune responses

Emory University researchers are taking part in a multi-site study across the United States to track the immune responses of people hospitalized with COVID-19 that will help inform how the disease progresses and potentially identify new ways to treat it.  The study is funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health. The study – called Immunophenotyping Assessment in a COVID-19 Cohort (IMPACC) – launched Friday. Read more

Marcus Lab researchers make key cancer discovery

A new discovery by Emory researchers in certain lung cancer patients could help improve patient outcomes before the cancer metastasizes. The researchers in the renowned Marcus Laboratory identified that highly invasive leader cells have a specific cluster of mutations that are also found in non-small cell lung cancer patients. Leader cells play a dominant role in tumor progression, and the researchers discovered that patients with the mutations experienced poorer survival rates. The findings mark the first Read more

National Eye Institute

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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