2009 National DNA Day Online Chatroom Transcript

This is just one question from an archive of the National DNA Day Moderated Chat held in April 2009. 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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We are know that rare genetic disorders comes rarely. But what are the kinds of those?      Toni Pollin, M.S., Ph.D.: I have a Master's degree and board certification in genetic counseling and a Ph.D. in human genetics. My research interests include identifying genetic factors in common complex diseases. There are thousands of rare genetic disorders. Note that "rare" is a relative term. For example, cystic fibrosis occurs in about 1/2,500 individuals and is rare compared to diabetes (1/12 Americans) but common compared to numerous other genetic disorders such as pseudoxanthoma elasticum (PXE), occurring in about 1/70,000 to 1/100,000 individuals. See the National Organization for Rare Disorders (NORD) website at http://www.rarediseases.org/ for more information about rare diseases, including rare genetic disorders. Anthro-Therizino (7th grade student)

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