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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My daughter has Williams syndrome and we believe that chromosome 7 has about 26 genes missing that were not inherited by either parent. Why does this happen and why do those missing genes have such an impact?
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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.
Sometimes, as eggs and sperm are being made, pieces of DNA can be gained or lost in the process. In the case of William's syndrome, genes are lost which impact some, but not all, aspects of development, explaining why certain parts of the body can be affected by William's syndrome and others are not.
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Charlotte clark (Higher Education ) |
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