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
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blood disorder

Improving the lives of those with rare blood disorders

While many people have never heard of an eosinophil, most people do know what a white blood cell is and have some understanding of its disease and infection-fighting role in the human body.

While these strange-sounding cells play an incredibly important part of the immune system by helping to fight off certain infections, when eosinophils occur in higher than normal numbers in the body without a known cause, a rare eosinophilic disorder may be present.

Typically, eosinophils make up less than five percent of circulating white blood cells in healthy individuals and can vary over time, but when the body wants to attack a substance, , eosinophils respond by moving into the area and releasing a variety of toxins. When the body produces too many eosinophils, they can cause chronic inflammation, resulting in tissue damage within the body.

Emory cardiologist Wendy Book serves as president of the American Partnership for Eosinophilic Disorders (APFED), one of the organizations within the National Organization for Rare Disorders (NORD). Book recently accepted the Abbey S. Meyers Leadership Award on behalf of APFED. The award, named for NORD’s founding president, is presented each year to a NORD Member Organization for demonstrating outstanding leadership and representation of its members.

“I am honored to be part of a collaborative effort among patients, families, physicians, researchers, policy makers and others to develop diagnostics and therapeutics for rare diseases,” says Dr. Book. “We are grateful to work with NORD and other member organizations to provide a voice for those living with rare, and often poorly understood, diseases.”

The awards were presented at the annual NORD Partners in Progress Celebration.  Each year, NORD—a nonprofit organization that represents the 30 million Americans with rare diseases—celebrates pioneering achievements of individuals, organizations, and companies in public policy, patient advocacy, medical research, and product development.

Posted on May 31, 2011 by admin in Uncategorized Leave a comment

Raising awareness for sickle cell disease

September is National Sickle Cell Awareness Month, and when it comes to assessing and treating sickle cell disease, there is no other place in the world like the Georgia Comprehensive Sickle Cell Center at Grady Memorial Hospital.

James R. Eckman, MD

James R. Eckman, MD, with a patient

Led by James R. Eckman, MD, pioneering medical director and professor of medicine at Emory School of Medicine, the Center is the world’s first 24-hour comprehensive primary care clinic for patients with sickle cell syndromes. It is comprised of a multidisciplinary team with the a mission to educate and provide preventative and comprehensive primary care, while responding to sickle cell emergencies quickly and efficiently.

Millions of people worldwide suffer from the affects of sickle cell anemia – especially those of African, Mediterranean and Indian descent. According to CDC, more than 70,000 people in the United States have sickle cell disease, mostly African Americans. Each year more than 1,000 babies are born with sickle cell disease.

The inherited disorder affects the blood’s hemoglobin, which produces stiff, misshapen red blood cells that deliver less oxygen and can disrupt blood flow, resulting in joint and organ damage and potential clots and strokes. The sickling of red blood cells is aggravated by infections, extreme hot or cold temperatures, poor oxygen intake, not drinking enough fluids and stress.

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Posted on September 24, 2009 by admin in Uncategorized Leave a comment