Genetic Mutations and Rett’s Syndrome
March 13, 2008 by Kristina Chew, PhD
Filed under Health
As a recent post on Eye on DNA notes, genetic testing can reveal a lot of information, sometimes more than one knows what to do with. But testing can be helpful as families consider therapies and treatments and make plans. A new study published in the March issue of Neurology has found that, by analyzing eight common genetic mutations which account for two-thirds of cases of Rett’s Syndrome, researchers can access the severity of symptoms that someone with Rett’s might have. It is hoped that finding out such information might help families have a clearer sense of their child’s prognosis. Today’s Science Daily notes that the research was undertaken by an international collaboration, using information international collaboration based on information provided by “families and clinicians from around the world to the InterRett online database at the Telethon Institute for Child Health Research.”
Dr. Helen Leonard, the head of the Australian Rett Syndrome Study, co-authored the study.
Unfortunately, my knowledge of genetics is seriously lacking. I did well in my introductory biology course in college but that was almost 25 years ago. However, I am very interested in this. Is there a decent book out there that can help me understand this subject? I went to see a geneticist about a month ago. My oldest has had extensive testing done but they have not found anything. Well, mutation wise that is. We have participated in AGRE and will be participating in an OSU study as well. AGRE published a newsletter in which they have gone from DNA to RNA research. Again, if you know of any great books regarding this subject, please recommend.
This is impression research. Hopefully, by studying what mutations factor into symptom severity, researchers are on track to finding the actual cause of Rett’s Syndrome.