Home 
About RSRT Rett Syndrome Curing Rett MECP2 disorders News Blog
| RTT WATCH is an email bulletin for new information relevant to Rett Syndrome and MECP2-spectrum disorders. Knowledge is power. Forward this e-newsletter and give your family, friends and colleagues an opportunity to register for RTT Watch and stay apprised of critical research developments. 
Issue No. 13 -- January 25, 2010 RSRT News
RSRT NEWS RSRT Invests Half a Million Dollars In Search of Modifier Genes - Monica Justice, PhD Awarded Continued Funding  We all know people who, despite smoking several packs of cigarettes a day during their entire lives, remain healthy and cancer free. And then there is Dana Reeve, wife of Christopher Reeve, who succumbed to lung cancer without ever smoking a single cigarette. We know people who survive on fast food and manage to retain enviably low cholesterol levels. What protects these smokers and junk food addicts from illness? The answer is likely to be found in their genes. Genetic mutations are not always bad. In fact mutations can be advantageous - just think of evolution. One of the seven projects supported by RSRT is in the laboratory of mouse geneticist Monica Justice, at Baylor College of Medicine. Dr. Justice is conducting experiments on Rett Syndrome mouse models looking for advantageous mutations in genes that protect against the results of MeCP2 deficiency. In other words, genes which, when mutated, compensate for the MeCP2 mutation. Once identified, the hope is that these genes (and there may be a number of them) may be manipulated via drug therapies. With the work going well and RSRT's initial financial commitment coming to an end, Dr. Justice applied for additional funds. The feedback from our scientific reviewers was unanimously enthusiastic and our Board of Trustees voted to continue support. To learn more about the project we invite you to read the recent interview with Dr. Justice on our blog. An Interview With John Crowley, The Father Who Inspired "Extraordinary Measures" 
John Crowley's life was bright: a recent MBA from Harvard Business School, a young family, and a blossoming career...the world was his oyster. And then John and Aileen received the shocking news that their toddler and newborn were both afflicted with Pompe Disease, a fatal neuromuscular disease. John's fearless actions as he fights to save his children's lives are portrayed on the big screen in the new film by Tom Vaughan, Extraordinary Measures starring Brendan Fraser, Harrison Ford and Keri Russell. Before the holidays, Monica Coenraads, RSRT Executive Director, had an opportunity to interview Mr. Crowley for the RSRT Blog. VOTING OPPORTUNITY TO HELP RETT SYNDROME RESEARCH 
The Extraordinary Measures website is highlighting video stories of hope and inspiration. The video with the most votes will win $10,000 from CBS Films. Please visit and vote DAILY until January 29th for the video entitled "Reverse Rett Syndrome - Give Our Girls a Voice." You can type "Rett" in the search box to find the video. Transcript Available in Spanish 
The video presentation entitled "Curing Rett Syndrome: How Do We Get There?" is currently available online on the RSRT Blog. Transcripts of the presentation are now available in Spanish. To receive a pdf please contact us. 
If you shop online, please consider helping our organization by doing what you already do online every day. We invite you to download the RSRT toolbar from iRobinHood. By adding our toolbar to your browser, every search or transaction you perform will result in a donation to our cause, at absolutely no cost to you. RESEARCH Glial Cells Get a Little Respect 
There are two broad classes of cells in the brains: neurons and glia. Neurons, for years, have been getting all the attention. It was thought that glia acted as nursemaids to the neurons, providing nourishment and architectural infrastructure. Recent studies have challenged this view and scientists are realizing that in fact glia play a key role in brain activity beyond a housekeeping one. In February of last year, RSRT scientific advisor, Gail Mandel, showed that the MeCP2 protein, previously thought to exist only in neurons, is also found in glia. Understanding the role of glial cells in a normal brain as well as in disease states is attracting increased attention. A commentary in The Scientist discusses a paper published last week in the high profile journal Nature, which shows that astrocytes, a particular kind of glia, play a crucial role in neuronal activity. Transplanted Stem Cells Form Proper Brain Connections - In new animal study, neurons developed from stem cells successfully wired with other brain regions  Washington, DC - Transplanted neurons grown from embryonic stem cells can fully integrate into the brains of young animals, according to new research in the Jan. 20 issue of The Journal of Neuroscience. Healthy brains have stable and precise connections between cells that are necessary for normal behavior. This new finding is the first to show that stem cells can be directed not only to become specific brain cells, but to link correctly. In this study, a team of neuroscientists led by James Weimann, PhD, of Stanford Medical School focused on cells that transmit information from the brain's cortex, some of which are responsible for muscle control. It is these neurons that are lost or damaged in spinal cord injuries and amyotrophic lateral sclerosis (ALS). "These stem cell-derived neurons can grow nerve fibers between the brain's cerebral cortex and the spinal cord, so this study confirms the use of stem cells for therapeutic goals," Weimann said. Read More Stem Cells Likely to Help Genetic Disorders First  TUESDAY, Jan. 5 (HealthDay News) - With new rules in place that lifted restrictions on federal funding of human embryonic stem cell research, health-care advocates are looking down the line and wondering when the first medical advances based on stem cells might occur. That will take some years yet, according to experts in the field. And when breakthroughs do come, they might not be what most people think of when they envision potential stem cell therapies. The best-known potential use of human embryonic stem cells involves cell-based therapy, where stem cells are used to repair damaged heart muscle or severed spinal cords. But the first advances are more likely to come from stem cells used to research genetic diseases and develop therapies and cures for those diseases, said Story Landis, director of the U.S. National Institute of Neurological Disorders and Stroke and chairman of a stem cell task force at the National Institutes of Health. "I am sure we will see advances from those kind of studies before we will see advances in cell replacement therapy," Landis said. "They (stem cells) aren't just for cell replacement. They are also for understanding disease processes and developing better therapies." The main concern with using stem cells directly in therapy is making sure they can be controlled and directed, Srivastava said. For example, doctors want to make sure that cells injected into a spinal cord will form nerve tissue, rather than muscle, skin or bone tissue. There's also a concern that the stem cells could run wild and turn into cancer. "We need to make sure the transplanted cells do exactly what we want and nothing else," he said. Read More U.S. Medical Research Funding Falls: Analysis  Reuters reported last week that public and private funding for U.S. biological and medical research has slowed and resources from one major federal source shrank when inflation is taken into account. The findings, from a report published from the University of Rochester Medical Center, suggest a more cautious future for medical research, and one in which new scientists shy away from risky undertakings that could deliver breakthroughs, in favor of safer but less exciting approaches. "After a decade of doubling, the rate of increase in biomedical research funding slowed from 2003 to 2007, and after adjustment for inflation, the absolute level of funding from the National Institutes of Health and industry appears to have decreased by 2 percent in 2008," the report reads. "Biomedical research captures the public's imagination," they added. It also leads to economic development, they said. "Therefore, in the coming years, debate will likely increase between those who view technology as a source of additional cost and those who view it as a source of value. The research community should be mindful of how others view it and take aggressive steps to enhance its own productivity." And researchers may avoid risky experiments in a conservative environment, they said. "It makes them cautious and may portend a trend to favor incremental research rather than high-risk/high-reward avenues, which have particular value to refractory diseases and those of great clinical or public health impact," they wrote. 
RSRT is on Facebook. Join us! 
RSRT is on Twitter. Follow us!
Rett Syndrome Research Trust |
