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

Reddit as window into opioid withdrawal strategies

Drug abuse researchers are using the social media site Reddit as a window into the experiences of people living with opioid addiction. Abeed Sarker in Emory's Department of Biomedical Informatics has a paper in Clinical Toxicology focusing on the phenomenon of “precipitated withdrawal,” in collaboration with emergency medicine specialists from Penn, Rutgers and Mt Sinai. Precipitated withdrawal is a more intense form of withdrawal that can occur when someone who was using opioids starts medication-assisted treatment Read more

CROI: HIV cure report and ongoing research

The big news out of CROI (Conference on Retroviruses and Opportunistic Infections) was a report of a third person being cured of HIV infection, this time using umbilical cord blood for a hematopoetic stem cell transplant. Emory’s Carlos del Rio gave a nice overview of the achievement for NPR this morning. As del Rio explains, the field of HIV cure research took off over the last decade after Timothy Brown, known as “the Berlin patient,” Read more

National Human Genome Research Institute

Emory med student makes early-career contribution on inherited metabolic disorder

Medical student Colin O’Shea is the first author on a paper published May 21 in the journal Pediatrics. Before beginning medical school, O’Shea worked at the National Human Genome Research Institute, part of the National Institutes of Health.

He was working with Charles Venditti, MD, PhD, a leading researcher at NHGRI studying methylmalonic acidemia(MMA) MMA is an inherited metabolic disorder in which the body can’t break down certain amino acids and fats, leading to a buildup of methymalonic acid and ammonia.

The NHGRI has a more detailed description of this research HERE.

Medical student Colin O'Shea

Infants with MMA can have developmental delays, recurrent vomiting and seizures. The disease can be detected through metabolic screening for newborns, and a low-protein diet combined with dietary supplements can help manage the disease.

O’Shea’s research could give parents a better idea of what to expect, and give doctors clues for warning signs when monitoring a patient’s progress. His paper represents the largest study (43 individuals, over six years) so far of the cognitive and neurological status of people with MMA. He worked with a team of psychologists, clinicians and radiologists at the National Institutes of Health to compile information on participants. The ages at which the participants in the study were evaluated ranged from 2 to 32.

“Colin worked hard to make this happen, and I think the larger point is that students at the beginning of their careers can really make an impact,” says Venditti.

The data shows that the IQ scores of people with MMA vary quite a bit (the mean is around 85), with seizures and high ammonia levels being predictors of lower scores. O’Shea’s team found that the IQ scores of people with MMA tend to be lower than neurotypical individuals, but their scores are generally stable and cognitive decline is not a necessary feature of the disease. On neurocognitive tests, people with MMA do appear to have a particular deficit in processing speed. O’Shea, Venditti and their colleagues write that this finding was “particularly striking” and it may reflect damage to the part of the brain known as the basal ganglia.

“I am excited by the prospect of continuing to work in the field of inherited disorders,” O’Shea says. “That said, Emory has opened up many
doors to me with regard to future careers. I’ve enjoyed almost every subject I’ve been taught thus far, so I’m still deciding what path I’d
like to choose.”

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