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2008 National DNA Day Online Chatroom Transcript

This is just one question from an archive of the National DNA Day Moderated Chat held in April 2008. 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.

cuanto tiempo se lleva para detecta una enfermedad mysteriosa?
     Belen Hurle, Ph.D.: Generating data for use in developing and refining computational tools for comparing genomic sequence from multiple vertebrate species. I will give you an example: Progeria is an extremely rare condition in which physical aspects of aging are greatly accelerated, and few affected children live past age 13. About 1 in 8 million babies are born with this condition. It is a genetic condition, but occurs sporadically and is usually not inherited in families. Well, the disease was clinically described in 1886 and the gene responsible for it was cloned in 2003. So it took 117 to discover the gene! Fortunately not always it takes so long. Te voy a dar un ejemplo: la progeria es una enfermedad muy, muy rara (1 caso entre 8 millones) en la que los ninos envejecen aceleradamente. Muy pocos ninos viven mas de 13 anos. La enfermedad se describio geneticamente en 1886 , pero el gen responsable no se clono hasta 2003. Asi que llevo 117 anos descubrir el gen! Menos mal que los genes defectuosos en muchas otras enfermedades se descubren mucho mas rapido.
Maple Shade High School in NJ (10th grade student)

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