Often enough, in science as in life, unexpected knowledge has a personal impact. Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient had a novel combination of two mutations. Those mutations caused a different disease, unrelated to ADHDa blood disorder called idiopathic hemolytic anemia.
Although the man had long contended with the blood disease, "idiopathic" meant that physicians were unable to determine the cause of his particular anemiauntil now, say authors of a new study.
As gene-sequencing costs continue to drop as a result of new technology, the authors predict "a coming wave of unrelated findings and the resolution of 'idiopathic' diseases." In its wake will be new ethical and clinical implicationssuch as how and when to best share these findings with people who provide their own DNA for the research.
Rapid improvements in analytical tools are enabling researchers to more frequently sequence whole genomes of individual patients, said study leader Gholson J. Lyon, M.D., Ph.D., a psychiatrist and principal investigator in the Center for Applied Genomics at The Children's Hospital of Philadelphia. "As we sequence whole genomes, we will find new mutations unrelated to the disease under investigation," he added. "How do we handle this information, especially when it doesn't lend itself to immediate action by a patient and physician? This is an issue that is coming to the forefront with current advances in genetic knowledge."
Lyon, and co-corresponding author Kai Wang, Ph.D., published the study online July 15 in the journal Discovery Medicine. (Formerly at The Children's Hospital of Philadelphia, Wang is now at the University of Southern California.)
In the current study, Lyon and colleagues performed genetic analysis in a Utah family in which a father and two sons have a severe form of ADHD. All three had respond
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Children's Hospital of Philadelphia