Dr. Elizabeth Berry-Kravis
An investigational compound that targets the core symptoms of fragile X syndrome is effective for addressing the social withdrawal and challenging behaviors characteristic of the condition, making it the first such discovery for fragile X syndrome and, potentially, the first for autism spectrum disorder, a study by researchers at Rush University Medical Center and the University of California, Davis MIND Institute has found.
The finding is the result of a clinical trial in adult and pediatric subjects with fragile X syndrome. It suggests, however, that the compound may have treatment implications for at least a portion of the growing population of individuals with autism spectrum disorder, as well as for those with other conditions defined by social deficits. The study is published online today in the journal Science Translational Medicine.
“There are no FDA-approved treatments for fragile X syndrome, and the available options help secondary symptoms but do not effectively address the core impairments in fragile X syndrome,” said Dr. Elizabeth Berry-Kravis, the lead author of the article. “This is the first large-scale study that is based on the molecular understanding of fragile X syndrome and, importantly, suggests that the core symptoms may be amenable to pharmacologic treatment.” Berry-Kravis is professor of pediatrics, neurological sciences and biochemistry at Rush.
Filipino women between 40 and 65 years old can receive free screenings for cholesterol and diabetes while participating in a heart health study June 9 and 10 from 7 a.m. to 1 p.m. at Rush University Medical Center’s Heart Center for Women at 1725 W. Harrison St. in Chicago.
This 400-person study, an evaluation of the impact that factors such as genetics have on heart health, is specifically seeking women who don’t suffer from cancer, lupus, or acute or chronic inflammatory diseases. Blood will be drawn by licensed professions. A minimum of eight hours of fasting is required prior to the exam, which lasts 30 to 45 minutes.
Please bring all prescription and non-prescription medications. Refreshments will be provided.
For more information, call (847) 612-7206.
Dr. Joshua J. Jacobs
A team of engineers and physicians have made a surprising discovery that offers a target for designing new materials for hip implants that are less susceptible to the joint’s normal wear and tear.
Researchers from Northwestern University, Evanston, IL, Rush University Medical Center, Chicago, and the University of Duisburg-Essen Germany found that graphitic carbon is a key element in a lubricating layer that forms on metal-on-metal hip implants. The lubricant is more similar to the lubrication of a combustion engine than that of a natural joint.
The study will be published Dec. 23 by the journal Science.
Prosthetic materials for hips, which include metals, polymers and ceramics, have a lifetime typically exceeding 10 years. However, beyond 10 years the failure rate generally increases, particularly in young, active individuals. Physicians would love to see that lifespan increased to 30 to 50 years. Ideally, artificial hips should last the patient’s lifetime.
Our findings will help push the field forward by providing a target to improve the performance of hip replacements,” said co-author and principal investigator Dr. Joshua J. Jacobs, the William A. Hark, M.D./Susanne G. Swift Professor of Orthopedic Surgery and professor and chair of the department of orthopedic surgery at Rush. “That’s very exciting to me.”
Read the entire news release.
A 40-year search for a gene that causes some one-celled sea creatures to flash at night and is also found in others that produce deadly red tides, has been successfully culminated by a group of scientists led by Thomas E. DeCoursey, PhD, professor of biophysics and physiology at Rush University Medical Center.
The gene, discovered in a tiny marine organism called a dinoflagellate (Karlodinium veneficum), controls voltage-gated proton channels, which, in addition to triggering luminescence in certain single-cell sea creatures, activate many important biological mechanisms in other species, including humans.
(Credit: National Science Foundation)
Results of the study by DeCoursey, Susan M. E. Smith and co-researchers were published in the October 17, 2011 issue of the Proceedings of the National Academy of Sciences. The study was funded in part by grants from the National Science Foundation and the National Institutes of Health.
The existence of a voltage-gated proton channel in bioluminescent dinoflagellates was proposed in 1972 by J. Woodland Hastings, a co-author on the current study, and his colleague Margaret Fogel. They hypothesized that proton channels helped trigger the flash by activating luciferase, an enzyme that helps produce luminescence. But until now, the genetic code responsible for the proton channels in dinoflagellates had not been identified, although it had been decrypted in humans, mice, algae and sea squirts.
For more information, read the entire news release.
Dr. Howard Kaufman
Very few treatment options exist for patients with advanced melanoma, which is the most lethal type of skin cancer. But the results of a large clinical trial involving Rush provide promise.
The findings of the study show that combining a vaccine with the immune-boosting drug Interleukin-2 has a higher response rate and increases survival rates more than the use of Interleukin-2 alone. This marks the first vaccine study for advanced melanoma, and one of the first for all types of cancers, to show clinical benefit in a phase III trial.
If we can use the body’s own defense system to attack tumor cells, we provide a mechanism for ridding the body of cancer without destroying healthy tissue,” said Dr. Howard Kaufman, director for the Rush University Cancer Center and a co-investigator in the study.
The next step is to improve the vaccine’s efficacy. Researchers hope to improve on the study’s results by combining the vaccine with agents other than Interleukin-2.
Read the news release.