Jonathan Kratchman, a 16-year-old with autism from Cherry Hill, likes participating in medical research studies. "They explain everything to him," says his mother, Amy Kratchman. "For once he feels that someone is listening to him. He's always asking, 'Mom, when's the next study?' " Over the next few years, both mother and son will be spending even more time on the front lines of autism research. Amy Kratchman is part of a research team at Children's Hospital of Philadelphia that recently received a $668,000 federal grant to help doctors understand the treatment outcomes that children and parents really want. Clinical trials are critical because they test new treatments and help improve care. And while it may seem obvious to take the views of parents and children into account, that hasn't been the case. Patients and health professionals often "speak a very different language," says Katherine Bevans, lead researcher on the project. For example, she says, physicians treating autism spectrum disorder tend to "focus on things like aggressive behavior, lethargy, fatigue," which parents and children rarely mention. "They ask, 'How does it affect the family? How does it help [the children] adapt better to new events and people?' " Bevans said. … Continue reading →

Public release date: 2-Sep-2012 [ | E-mail | Share ] Contact: Robin Latham lathamr@nidcd.nih.gov 301-496-7243 NIH/National Institute on Deafness and Other Communication Disorders Scientists funded by the National Institutes of Health have restored the ability to smell in a mouse model of a human genetic disorder that causes congenital anosmiathe inability to smell from birth. The approach uses gene therapy to regrow cilia, cell structures that are essential for olfactory function. The study was funded by four parts of NIH: the National Institute on Deafness and Other Communications Disorders (NIDCD), the National Institute on Diabetes and Digestive and Kidney Diseases (NIDDK), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Eye Institute (NEI). It was published online in the September 2, 2012, issue of the journal Nature Medicine. "These results could lead to one of the first therapeutic options for treating people with congenital anosmia," said James F. Battey, Jr., M.D., Ph.D., director of NIDCD. "They also set the stage for therapeutic approaches to treating diseases that involve cilia dysfunction in other organ systems, many of which can be fatal if left untreated." Olfactory dysfunction can be a symptom of a newly recognized … Continue reading →

Public release date: 2-Sep-2012 [ | E-mail | Share ] Contact: Emmanouil Dermitzakis emmanouil.dermitzakis@unige.ch 41-223-795-483 Universit de Genve Genetic disease risk differences between one individual and another are based on complex aetiology. Indeed, they may reflect differences in the genes themselves, or else differences at the heart of the regions involved in the regulation of these same genes. By gene regulation we mean the decision that the cell makes as to when, where and at what level to activate or suppress the expression of a gene. In theory, two people could thus share a gene that is perfectly identical and yet show differences in their predisposition to a disease due to genetic differences concerning the regulation (overexpression or underexpression) of this same gene. Numerous teams are currently trying to draw up a map of regions involved in gene regulation. Not an easy task, but invaluable since it allows us to understand all the genetic causes that can explain the predisposition to certain diseases. Working with twins Emmanouil Dermitzakis, Louis-Jeantet Professor at the Faculty of Medicine and member of the NCCR Frontiers in Genetics and the Institute of Genetics and Genomics of Geneva (IGE3), is a specialist in what is called … Continue reading →