Process of finding a gene, Mark Skolnick
Interviewee: Mark Skolnick. Mark Skolnick recounts the complicated process of verifying that the gene they had found was indeed BRCA1. (DNAi Location: Applications > Genes and medicine > Gene hunting > Mark Skolnick > Is it the BRCA1 gene?)
So the process of finding the gene is very complicated. You get a signal that you have found something different in a gene in a family, and the first signal that we got for BRCA1 was actually a rather weak signal. It caused a slightly different protein to be made, but we couldn't be convinced that this protein actually was an abnormal protein that would cause a disease. So there was excitement, there was jumping up and down, but we knew we needed to find in another family a stronger change before we were really sure that we had the gene. Because in this process there are what we call gene scares, where you're looking at a gene, you see some changes, you hope that those changes mean that you've found the abnormal gene, but in fact as time goes on you discover that they're just normal variation, normal DNA variation in normal individuals. So it took some time for us to really be sure that we had the breast cancer gene and every time we got more evidence that this was it, there was another thrill, more excitement, and then once we were sure that we had the gene, then another race was on, that was the race to find the whole gene, because the prize was the whole gene.
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Mary-Claire King talks about her first steps toward finding the gene responsible for certain kinds of inherited breast cancer.
Mark Skolnick is Chief Scientific Officer at Myriad Genetics, Inc.
Mark Skolnick talks about moving on after the discovery of BRCA1 to find and clone another gene associated with breast cancer, BRCA2.
Mary-Claire King reflects on how knowledge gained from the identification of BRCA1 and BRCA2 could lead to improved cancer treatments.
BRCA1, on chromosome 17, is one of the genes associated with hereditary breast cancer.
Mark Skolnick talks about taking advantage of the well-documented genealogy of the Mormon pioneers to study inherited genetic disorders.
Mary-Claire King speaks about how much was yet to be understood about the genetic mechanisms of cancer when she began her hunt for genes associated with breast cancer.
Mary-Claire King talks about testing for breast cancer.
Mary-Claire King talks about the value of using the centuries-old tool of family pedigrees to gain insight into patterns of inheritance of genetic disorders.
Mark Skolnick talks about forming a company to discover genes and develop genetic tests.