One day we ’ll have really individualize medicament ; your Dr. will sequence your genome and prescribe a drug tailor - made for whatever ails you . Though this vision is still decades away , there are already a few people who are profit from it . Like this untested cleaning lady , whose rare disorder was diagnosed after she got her genome sequence .
For her whole life , Lilly Grossman has suffered a rare motor disorderliness that causes her to judder and twitch herself awake up to forty times every night . It ’s a debilitate status and her parents were lose hope . Until they were give the opportunity to have their girl ’s genome sequence . Ed Yong has a tremendous story about Grossman ’s treatment over atNot precisely Rocket Science . Writes Yong :
The Scripps squad sequence Lilly , [ her parents ] Steve and Gay ’s concluded genomes . Amidst the morass of As , Gs , Cs and Ts , they identified the potential causes of Lilly ’s mystery condition — three mutation in two dissimilar factor . One of these pointed the fashion to a likely treatment — a drug calledDiamoxthat had help another family with a fault in one of the same genes . When Lilly tried it , she gained a few workweek of sound shudder - free sleep .
“ Whole - genome sequencing can exchange life and maybe save some , ” says Steve . “ It commute ours . ” It was no miracle — the tremors have returned to a less extent than before , and the team are quest after new leads . But Steve and Gay never expected The Answer . They did n’t predict an easygoing cure . Genomics render them something arguably more important — hope . It turned the nameless , unknowable complaint that had steal long time of eternal sleep from their daughter into something tangible — a shape with a cause that can eventually be addressed . And it bought them time with Lilly .
Though Grossman has n’t been cured , she now takes new medication which are far more efficient than what she was deal before . As genomics improves , we ’re potential to see more face like hers .
Read the whole account atNot precisely Rocket Science
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