???????????????Durham??Baebies??????????????????????FDA?????????????????????????????????????????????????????????????????????SEEKER?????????λ????????????????????????崢???????lysosomal storage diseases, ??????LSDs????????????

LSDs???????????幦?????????????????л???????????????????????????????????Ρ????????????????????????????????????????????????????????У????????ж???

????????鱻???????????????????????????????????????????????????????Щ?????????????????顣????????50?????????????????????????????鳬??30????????л????????

Baebies???????ü洴???Vamsee Pamula????????????????????“????LSDs??л??FDA??????????????SEEKER?????????LSD????????????????????????????????????????????LSD????????FDA?????????FDA??SEEKER?????????????????????顣??????????SEEKER??????У??LSD?????????????Ч????????????????????”

????????????????

SEEKER?????????????????α-L-iduronidase??IDUA????α-D-glucosidase??GAA????β-glucocerebrosidase??GBA????α-D-galactosidase A??GLA??????????????????????????п?????ζ????????????Mucopolysaccharidosis??????I??MPS I????????????Pompe????????????Gaucher???????????Fabry?????????

??????????????????????????????????????????????ó?????????1500~185000?????????????л?????????????????????????????????????????????????????????????????????????????

?????????????Pompe??????????????Mucopolysaccharidosis??????I??MPS I???????????????????????????嵥??Recommended Uniform Screening Panel, RUSP??????LSD????????????????????????????????????????????ɡ?

???????????????????????????Bradford Therrell Jr????????“????LSDs????????????????????????嵥???????????????????????????????μ?????FDA???????ù?????????а??????в?????????????????????????????Ч?檔”

????????????????????н???LSD?????????????????Arizona?????????????Illinois????????????Kentucky??????Ъ????Michigan??????????Missouri????????????New Jersey??????ī???磨New Mexico????????New York??????????Ohio??????????????Pennsylvania????????????Tennessee????FDA??????????????????“???????FDA??δ??????κ??豸????????????????顣”

???????????????NCBiotech?????

2015??Baebies???????????鼼???Ｏ??1300??????????????????????Rex Health Ventures??DUMAC??Cunning Capital??Triad LLC??the Duke Angel Network??Charleston Angel Partners??Baebies??????????????

2014??Baebies?????????????????????????North Carolina Biotechnology Center?????50?????????????????????????

Baebies?????????????????Illumina——???λ???????????????????????????Illumina??Baebies??????????????????2013????9600??????????????λ??ī??????Advanced Liquid Logic???????????????

Advanced Liquid Logic????????Duke University????????????????Pamula?????????????????й??Richard West?????ü?????????????Baebies??????С?

?????????

????????г?-2016?桷

???????????????г???????????

???????????????????????á?