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

medical students

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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Studying the doctor and nursing shortage

An increase in the number of the nation’s elderly and the aging population of doctors is causing a doctor shortage in the United States, with estimates that the demand for doctors will outstrip supply by 2020, according to the Association of American Medical Colleges.

The Association of Colleges of Nursing notes a similar dilemma for the nation’s registered nurses. Read Knowledge@Emory for the full article. 

Fred Sanfilippo, MD, PhD

Fred Sanfilippo, MD, PhD, executive vice president for health affairs at Emory, CEO of Emory’s Woodruff Health Sciences Center and chairman of Emory Healthcare, says, “There is an ever-changing cycle of shortages. Advances in technology and treatment can reduce or increase demand for specialists needed in one area or another much more quickly than it takes to train or absorb them.”

For instance, the demand for cardiac surgeons has slowed dramatically as a result of better medications and stents. Changes in insurance and Medicare/Medicaid reimbursement can also impact specialties, he says.

“Since medical school graduates now carry so much debt, the specialty they choose is often influenced by potential income, which is most evident in the low numbers going into primary care.”

Read more

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Teaching students to be doctors: connections made

The Emory School of Medicine’s new curriculum was introduced in 2007 in order to create connections between faculty and students that last throughout the entire four years of medical school, “longitudinal” relationships much like those that should exist ideally between doctors and their patients.

Students practice providing exams

Students practice medical exams

Based on the kind of students who are attracted to Emory and on what they learn and model from their faculty mentors, these students are expected to grow not just in knowledge during their time at Emory, but also in compassion, curiosity, and commitment—and to use these traits wisely in serving their profession and community.

At the heart of the curriculum is a highly popular system of faculty advisers, each faculty mentor paired with eight or nine students.

These groupings are designated as “societies” named for historical medical luminaries—for example, Osler, Semmelweis, Lister, Harvey.

Faculty advisers who lead these societies in each class are chosen carefully, their salaries underwritten by the medical school so they can relinquish three half-days per week from their regular clinical and/or research duties to spend time with some or all of “their” students.

As the class of 2011 moves through the new curriculum, all now have completed the 18-month Foundations of Medicine phase, a whole-person approach section that combines clinical medicine and basic fundamentals of science, social sciences, humanities and public health.

This is not my father’s or mother’s medical school experience, students say. In the introduction-to-neuroscience module, for example, faculty share the classroom with a baseball player, who demonstrates and explains what a center fielder has to do to catch a fly ball or what a batter must consider before swinging at a ball leaving the pitcher’s hand at 95 mph.

Learn more about the curriculum in the 2009 Emory School of Medicine annual report, and more about the school in Emory Medicine. Read a message from Dean Thomas J. Lawley, MD.

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