Contact Information Available for logged-in reporters only Newswise (SALT LAKE CITY)University of Utah scientists have developed a genetically engineered line of mice that is expected to open the door to new research on epilepsy, Alzheimers and other diseases. The mice carry a protein marker, which changes in degree of fluorescence in response to different calcium levels. This will allow many cell types, including cells called astrocytes and microglia, to be studied in a new way. This is opening up the possibility to decipher how the brain works, said Petr Tvrdik, Ph.D., a research fellow in human genetics and a senior author on the study. The research was published Aug. 14, 2014, in Neuron, a world-leading neuroscience journal. The work is the result of a three-year study involving multiple labs connected with The Brain Institute at the University of Utah. The lead author is J. Michael Gee, who is pursuing both a medical degree and a graduate degree in bioengineering at the university. Were really in the era of team science, said John White, Ph.D., professor of bioengineering, executive director of the Brain Institute and the studys corresponding author. With the new mouse line, scientists can use a laser-based fluorescence microscope … Continue reading →

PUBLIC RELEASE DATE: 28-Aug-2014 Contact: Jill Reuter jreuter@lifespan.org 401-432-1328 Lifespan PROVIDENCE, R.I. A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients' developmental disabilities. Using whole-exome sequencing a method that examines the parts of genes that regulate protein, called exons - the team identified a genetic change in a newly recognized autism-associated gene, Activity-Dependent Neuroprotective Protein (ADNP), in a girl with developmental delay. This change in the ADNP gene helps explain the cause of developmental delay in this patient. This same genetic change in ADNP was also found in a boy who was diagnosed with autism. The ADNP gene plays an important role in regulation of early brain development. Recently, genetic changes in this gene have been found to cause a novel genetic syndrome associated with autism. Changes in this gene may be among the most common causes of autism. "Genetic testing is a very powerful diagnostic tool for individuals with developmental delay," said Eric Morrow, M.D., Ph.D., director of … Continue reading →

On average, one American dies from a stroke every four minutes. Stroke is also the leading cause of adult disability in the United States. Recognizing a stroke when it occurs can save lives, and yet a recent study reported that 1 in 5 women cant identify a single stroke warning sign even though its the fourth leading cause of death among Americans. When a stroke occurs, rapid medical attention is crucial. When treatment is received promptly, a person has a far greater chance of surviving the stroke and more likely to have less lasting damage. Immediate medical care should be sought if one or more of the following warning signs are observed: Strokes leave more than two thirds of survivors with lasting disability. Some stroke risk factors are inherited, but making healthy decisions can dramatically lower a persons risk of having a stroke. An overall healthy lifestyle that emphasizes weight management through regular exercise and a diet high in fruits, vegetables and whole grains, and low in high-sodium and high-fat foods, is important for overall health. Controlling blood pressure is critical, and not smoking and limiting alcohol will also decrease your likelihood of having a stroke. People with preexisting medical … Continue reading →

Contact Information Available for logged-in reporters only Newswise CAMBRIDGE, Mass. (September 4, 2014) Induced pluripotent stem cells (iPSCs)adult cells reprogrammed back to an embryonic stem cell-like statemay hold the potential to cure damaged nerves, regrow limbs and organs, and perfectly model a patients particular disease. Yet through the reprogramming process, these cells can acquire serious genetic and epigenetic abnormalities that lower the cells quality and limit their therapeutic usefulness. When the generation of iPSCs was first reported in 2006, efficiency was paramount because only a fraction of a percentage of reprogrammed cells successfully became cell lines. Accordingly, the stem cell field focused on reprogramming efficiency to boost the pool of cells that could be studied. However, as scientists gained an increased understanding of the reprogramming process, they realized that myriad variables, including the ratio of reprogramming factors and the reprogramming environment, can also greatly affect cell quality. Now researchers working in the lab of Whitehead Institute Founding Member Rudolf Jaenisch together with scientists from the Hebrew University have determined that the reprogramming factors themselves impact the reprogramming efficiency and the quality of the resulting cells. Their work is described in the current issue of the journal Cell Stem Cell. Postdoctoral … Continue reading →