tag:blogger.com,1999:blog-36768584.post8667234261354114472..comments2024-03-03T18:49:34.382-05:00Comments on Omics! Omics!: Occult Genetic DiseaseKeith Robisonhttp://www.blogger.com/profile/04765318239070312590noreply@blogger.comBlogger2125tag:blogger.com,1999:blog-36768584.post-36425658584796634932009-11-12T06:32:23.238-05:002009-11-12T06:32:23.238-05:00@Nash and @Keith
Yes, I agree. We will see more p...@Nash and @Keith<br /><br />Yes, I agree. We will see more people act on VUS. In her case she had an intronic mutation and a standard Del508.<br /><br />She had a clinical phenotype: Bronchiectasis with what was "presumed" to be COPD in a nonsmoker, Alpha 1 AT negative. AND the family history. Which is why we pursued anything here. She now takes Hypertonic saline and is covered for pseudomonas and classic CF bacteria whenever she has a relapse, which BTW, when we started saline, she has not had........<br /><br />A totally different treatment from COPD......<br /><br />-Steve<br />www.thegenesherpa.blogspot.comSteve Murphy MDhttps://www.blogger.com/profile/11774190000307343476noreply@blogger.comtag:blogger.com,1999:blog-36768584.post-31516342826132431682009-11-11T05:10:57.671-05:002009-11-11T05:10:57.671-05:00I suppose these patients could be thought of as wh...I suppose these patients could be thought of as what the yeast geneticists call "suppressor mutants" . Things like 454 sequencing of these patients, among other studies will not only elucidate the naure of the disease but will clearly pinpoint a possible cure/treatmentNashhttps://www.blogger.com/profile/02952597975578075192noreply@blogger.com