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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personalized medicine

Personalized molecular medicine part 3

This is a continuation of previous posts on individualized treatment for infantile-onset epilepsy, made possible by Emory scientists Stephen Traynelis and Hongjie Yuan’s collaboration with the NIH Undiagnosed Diseases Program. A companion paper containing some clinical details was recently published in Annals of Clinical and Translational Neurology.

Memantine, which was found to be effective for this particular child, is normally used to treat symptoms of Alzheimer’s disease. He has a mutation in a gene encoding a NMDA receptor, an important signaling molecule in the brain, which hyperactivates the receptor. Treatment with memantine reduced his seizure frequency from 11 per week to three per week, and eliminated one type of seizure, myoclonic jerks. It allowed doctors to taper off conventional anticonvulsant drugs, which were having little effect anyway. His cognitive ability has remained unchanged.

The team also discovered that the compound dextromethorphan, found in many over-the-counter cough medicines, was effective in the laboratory in counteracting the effects of a GRIN2A mutation found in another patient. However, these effects were mutually exclusive, because the molecular effects of the mutations are different; memantine helps L812M, while dextromethorphan helps N615K.

Yuan and Traynelis report they have an Fake Oakleys ongoing collaboration with UDP investigators to analyze the effects of mutations in NMDA receptor genes. That means more intriguing case reports are coming, they say.

Tyler Pierson, MD, PhD, lead author of the clinical paper who is now at Cedars-Sinai Medical Center in Los Angeles, and David Adams, MD, PhD, senior staff clinician at NIH, provided some additional information on the patient in the study, shown here in a Q + A format. Read more

Posted on March 4, 2014 by Quinn Eastman in Neuro 1 Comment

Personalized molecular medicine part 2

This is a continuation of the post from last week on the early-onset epilepsy patient, whom doctors were able to devise an individualized treatment for. The treatment was based on Emory research on the molecular effects of a mutation in the patient’s GRIN2A gene, discovered through whole exome sequencing.*

For this patient, investigators were able to find the Ray Ban Baratas cause for a previously difficult to diagnose case, and then use a medication usually used for Alzheimer’s disease (memantine) to reduce his seizure frequency.

Last week, I posed the question: how often do we move from a disease-causing mutation to tailored treatment? Read more

Posted on March 3, 2014 by Quinn Eastman in Cancer, Neuro Leave a comment

Personalized Medicine Day in Georgia

Governor Nathan Deal was joined by Ambassador Andrew Young, Georgia State Representative Calvin Smyre and Leroy Hood, founder of the Institute of Systems Biology, in formally proclaiming September 1, 2011 Personalized Medicine Awareness Day in the State of Georgia.

Georgia Governor Nathan Deal presents Morehouse School of Medicine’s Dean and Executive Vice President, Valerie Montgomery Rice, MD, with a state proclamation declaring Sept. 1, 2011 Personalized Medicine Awareness Day in Georgia.

The event at Morehouse School of Medicine (MSM) was sponsored by Georgia Bio; the Atlanta Clinical & Translational Science Institute (ACTSI, which is funded by the NIH and led by Emory University with partners MSM and Georgia Tech); and Iverson Genetics, Inc.

“The collaboration within the ACTSI between these three research universities is an important undertaking and an example of how it should be done,” remarked Governor Deal as he kicked off the day’s program.

A visionary in the personalized medicine field, Dr. Hood developed the DNA gene sequencer and synthesizer and the protein synthesizer and sequencer – four instruments that paved the way for the successful mapping of the human genome.

During his keynote address he proposed a revolution in medicine.  P4 Medicine – Predictive, Preventive, Personalized and Participatory – is a proactive (instead of a reactive) approach to medicine. The paradigm change will drive radical changes in science.

For P4 medicine to succeed, a cross-disciplinary culture with team science and new approaches to educating scientists, as is done through the ACTSI, has to take place. Dr. Hood predicts the human genome will be part of individual medical records in 10 years.

Leroy Hood, MD, PhD

“The vision of P4 medicine is that each patient will be surrounded by a virtual cloud of billions of data points. Advances in science and technology will reduce this enormous data dimensionality to simple hypotheses about human health and disease,” says Hood.

“The ultimate outcome is to create individualized patient disease models that are predictive and actionable. The shift to P4 Medicine will also require societal changes.”

Personalized Medicine Awareness Day celebrated the first-of-its-kind personalized medicine study, approved by the Centers for Medicare and Medicaid Services. The study will determine the utility of genetic testing in calculating doses and reducing the incidence of adverse events associated with the initiation of Warfarin therapy. Warfarin is the world’s leading anti-blood clotting drug.

Researchers hope the study will provide data to demonstrate that individualizing treatment can improve patient safety and reduce healthcare costs, says Dean Sproles, CEO of Iverson Genetics, Inc., which is collaborating in the study with MSM and the ACTSI.

Governor Deal congratulated the ACTSI for leading the landmark Warfarin study with Iverson and is “proud that Georgia will be leading the effort.”

The Warfarin Study is led by ACTSI Senior Co-Principal Investigator Elizabeth Ofili, MD, MPH, director of the Clinical Research Center, chief of cardiology and associate dean for clinical research at MSM, and will engage 50 sites across the country and 7,000 participants. The first participant was recently enrolled at Grady Memorial Hospital.

“This study should help us understand how to use each patient’s genetic information to deliver a safer and more effective dose,” says Ofili.

Sproles noted, “The study is evidence of the growing role of genetics in helping doctors to develop optimal individual treatments for their patients.”

A panel including Emory medical leaders David Stephens, Fred Sanfilippo and Kenneth Brigham discussed and addressed questions like how to communicate ‘big science’ to the individual, how to move genetic testing to medical outcomes and who owns genome data.

“Personalized Medicine is the future,” stated Governor Deal. The presence of Governor Deal, Ambassador Young and Representative Smyre is a sign that policymakers are beginning to recognize that personalized medicine is not just a vision for better healthcare; it has the power to improve health and reduce healthcare costs.

Posted on September 9, 2011 by admin in Uncategorized 1 Comment