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.

---

236

I have VHL,and I recently discovered that my mutation is nt 407 C/G 65 Ser?Trp S65W missense. My questions are: 1. Based on the mutation should I be focused on certain screenings more than others? In other words should I follow the same protocol as others with VHL but with different mutations? 2. Does this mutation define how the disease will progress?      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. In some cases, a person's specific mutation for a disease can provide information which could guide treatment or help understand future risks, however there are also mutations that haven't been seen often enough in people to allow us to make these types of generalizations. We're not able to offer specific medical advice, but this would be a great question to take to your family physician or for a genetic counselor! Shawn in PA ()

---

< View ALL questions and answers from 2012

Or, search the 2012 transcript by keyword:
(short, single keywords work best at first)