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

biomarkers

Reading the blood: metabolomics

In the Star Trek series, Dr. McCoy could often instantly diagnose someone’s condition with the aid of his tricorder. Medicine on 21st century Earth has not advanced quite this far, but scientists’ ideas of how to use “metabolomics” are heading in this direction.

What is metabolomics? Just as genomics means reading the DNA in a person or organism, and assessing it and comparing it to others, metabolomics takes the same approach to all the substances produced as part of the body’s metabolism: watching what happens to food, drugs and chemicals we are exposed to in the environment.

This means dealing with a huge amount of information. Human genomes may be billions of letters (base pairs) in length, but at least there are only four choices of letter!

A recent article in Chemical & Engineering News explores this concept of the “exposome” and quotes Dean Jones. He and his colleagues recently described how they can use sophisticated analytical techniques to resolve thousands of substances in human plasma. Jones is the director of the Clinical Biomarkers Laboratory at Emory University School of Medicine. The paper is in the journal Analyst, published by the Royal Society of Chemistry.

Analytical techniques can discern more than 2500 metabolites from human plasma within 10 minutes

Using a drop of blood, within ten minutes the researchers can discern more than 2,500 substances in a reproducible way. One fascinating tidbit: when they compared the metabolic profiles for four healthy individuals, most of the “peaks” were common between individuals but 10 percent were unique.

The potential uses for this type of technology are staggering.

Jones reports he has been working with researchers at Yerkes National Primate Research Center to discern early signs of neurodegeneration in transgenic monkeys with Huntington’s disease. He has been collaborating with clinical nutrition specialist Tom Ziegler to examine how diet interacts with oxidative stress, and with lung biology to identify markers for fetal alcohol exposure in animal models.

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Alzheimer’s expert weighs in on proposed guidelines

Scans can show beta amyloid, a protein associated with Alzheimer’s disease (right)

For the first time in 25 years, medical experts are proposing new diagnostic criteria aimed at better and earlier detection of Alzheimer’s disease (AD).

The guidelines, proposed by the National Institute on Aging (NIA) and the Alzheimer’s Association, update and revise the current Alzheimer’s criteria with modern technologies and the latest research advances.

According to the Alzheimer’s Association, an estimated 5.3 million Americans have AD, most of them 65 and older. The disease is thought to begin years, possibly even decades, before symptoms are noticeable. But there is no single, generally accepted way to identify the disease in its earliest stages before symptoms are evident.

The new diagnostic guidelines focus on advances in detecting biomarkers for the disease, such as substances found in spinal fluid or appearing on cutting-edge brain imaging scans conducted with PET or MRI.

Emphasis will be on diagnosing early stages of the disease as soon as possible so that patients can take measures to slow the progression or prevent further damage.

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Hold out your finger: Epidemiologist developing test for colon cancer risk

Years from now, physicians may be able to determine whether you’re at increased risk for colon cancer by drawing blood from the tip of your finger.

Emory University researchers are working to identify biomarkers to detect a person’s chances of developing colon cancer. Much like blood pressure and cholesterol tests can indicate heart disease risk, researchers here hope that some day the makeup of blood and urine will be able to tell who’s at risk for colorectal cancer, why they may be at risk and what they can do to reduce their risk.

Postdoctoral fellows Joy Owen and Veronika Fedirko examine samples in Robin Bostick’s lab at the Winship Cancer Institute of Emory University.

For now, the Emory study team is analyzing the rectal tissue samples of people with colon adenomatous polyps, non-cancerous growths considered precursors to colon cancer, and comparing them to rectal tissue samples from people who don’t have polyps. They’re also looking at whether the differences they detect in rectal tissue can also be found in blood or urine. Currently, no accepted tests exist to determine whether someone may be at risk for colon cancer.

“Most people would rather provide a blood or urine sample than get a rectal biopsy,” says Robin Bostick, MD, MPH, Rollins School of Public Health epidemiology professor and study principal investigator. Bostick is also a clinical faculty member at the Winship Cancer Institute at Emory and a Georgia Cancer Coalition Distinguished Cancer Scholar.

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Biomarker may predict serious complications after lung transplantation

Researchers at Emory studying lung transplantation have identified a marker of inflammation that may help predict primary graft dysfunction (PGD), an often fatal complication following a lung transplant.

Primary graft dysfunction after a lung transplant

The results are published in the American Journal of Transplantation. First author Andres Pelaez, a pulmonary medicine specialist at Emory’s McKelvey Lung Transplant Center, and postdoc Patrick Mitchell led the research team.

“Despite major advances in surgical techniques and clinical management, serious lung transplant complications are common and often untreatable,” Pelaez says. “PGD is a severe lung injury appearing just a few days after transplantation. Unfortunately, predicting which lung transplant recipients go on to develop PGD has been so far unsuccessful. Therefore, our research has been directed towards identifying predictive markers in the donor lungs prior to transplantation.”

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