2012 National DNA Day Online Chatroom Transcript

This is just one question from an archive of the National DNA Day Moderated Chat held in April 2012. The NHGRI Director and many genomics experts from across NHGRI took questions from students, teachers and the general public on topics ranging from basic genomic research, to the genetic basis of disease, to ethical questions about genetic privacy.

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What test would you reccomend for a child that presents 95% of Williams Syndrome characteristic? Their FISH and CGH test were negative. Some of the symptoms include SVAS, hypercalcemia, larygomalecia (sp?)and anxiety. However, the child has an IQ of 114.
     Gillian Hooker, Ph.D., Sc.M.: I am the Associate Director of the Johns Hopkins Bloomberg School of Public Health/National Human Genome Research Institute Genetic Counseling Training Program and a contracted staff scientist within the Social and Behavioral Research Branch of the NHGRI. Prior to entering the field of genetic counseling, I completed my Ph.D. in Molecular, Cellular and Developmental Biology. While we can't make a diagnosis via the chat room, we can provide some encouragement that over time we're getting better at diagnosing diseases, both through genetic and other types of tests. It is important to check back in from time to time with doctors to find out of there are new tests which may help identify the cause of these symptoms.
Central Wyoming College in WY (Higher Education student)

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