Isikhangiso

Precision Medicine for Cancer, Neural Disorders and Cardiovascular Diseases

Ucwaningo olusha lubonisa indlela yokuhlukanisa ngamanye amaseli emzimbeni ukuze kuthuthukiswe umuthi onembayo noma ukwelapha komuntu siqu.

Ukwenza kahle hle imithi iyimodeli entsha ye ukunakekela impilo lapho idatha yofuzo, idatha ye-microbiome kanye nolwazi jikelele lwendlela yokuphila yesiguli, izidingo zomuntu ngamunye nendawo esizungezile kusetshenziswa khona ukukhomba nokuhlukanisa isifo bese unikeza isisombululo esingcono, esenziwe ngokwezifiso noma esikhethekile noma isu lokuvimbela elisebenzayo esikhathini esizayo. Le ndlela yokukhomba amangqamuzana ibilokhu ithuthuka kakhulu kule minyaka eyishumi edlule futhi manje isiqala ukwenza umthelela onamandla njengepharadigm entsha 'yokuhlukanisa, ukuhlonza nokwelapha' isifo. Umuthi onembile uhlanganisa idatha yokuqala, bese kuba ngamathuluzi/amasistimu/amasu/ubuchwepheshe bokuhumusha nokucubungula le datha. Idinga futhi imithethonqubo efanele yizindikimba ezisemthethweni kanye nokusebenzisana phakathi zezempilo abasebenzi bokunakekela ngoba kuwo wonke amazinga abantu bayabandakanyeka. I-stepin ebaluleke kakhulu imithi eqondile ukuqonda ukubaluleka kwemininingwane yofuzo yeziguli nokuthi idinga ukuhunyushwa kanjani ngokuphumelelayo. Lokhu kuzobandakanya ukusungula izinguquko, ukwenza ukuqeqeshwa njll. Ngakho-ke, umkhuba womuthi onembayo kusukela namuhla unzima ngoba ukuqaliswa kwawo kudinga ingqalasizinda yedatha eqinile, futhi okubaluleke kakhulu ukuguqulwa "kwengqondo". Kuyathakazelisa ukuthi ngo-2015, ngaphezu kwekota yayo yonke imithi emisha egunyazwe i-FDA, e-USA kwakuyimithi yomuntu siqu njengoba le mithi “eqondiwe” kakhulu isekelwa uhlolo lwemitholampilo oluncane noma olufushane olunezimo zokukhetha ezichazwe ngokunembe kakhulu futhi kuvela ukuthi esebenza kahle futhi eyimpumelelo. Kulinganiselwa ukuthi imithi yomuntu siqu esathuthukiswayo izokhuphuka cishe ngo-70% phakathi kuka-2020.

Ukuqonda isifo ezingeni lamangqamuzana

Ucwaningo lwakamuva olubalulekile luthole indlela inoveli enganikeza imininingwane yokuthi isifo siqala kanjani futhi sisakazeke kanjani emzimbeni ezingeni lamangqamuzana. Lokhu kuqonda kubonakala kubalulekile ekuthuthukiseni lokho okuxoxwa 'njengomuthi onembayo'. Indlela echazwe ocwaningweni ngokuphumelelayo futhi ngokushesha ibona izinhlobo ezincane zamangqamuzana emzimbeni, ezingasiza ekukhombeni "ngqo" amaseli ahilelekile esifweni esithile. Lokhu kuqashelwa kufinyelelwe okokuqala ngqa futhi lokhu kwenza ucwaningo lushicilelwe ku Imvelo ye-Biotechnology kuthakazelisa kakhulu futhi kuhambisana nekusasa lomkhakha wezokwelapha.

Ngakho-ke, umbuzo uwukuthi izinhlobo zamaseli zingabonwa kanjani emzimbeni. Kunamaseli angaba yizigidi eziyizinkulungwane ezingu-37 emzimbeni womuntu futhi ngaleyo ndlela ukuhlukanisa ingqamuzana ngalinye lilodwa angeke kubhekwe njengomsebenzi olula.Wonke amaseli emizimbeni yethu aphethe i-genome - iqoqo eliphelele lezakhi zofuzo ezifakwe ngaphakathi kweseli. Le phethini yokuthi yiziphi izakhi zofuzo ngaphakathi kwengqamuzana (noma kunalokho 'okuvezwayo' kuseli) yiyona eyenza ingqamuzana ihluke, isibonelo ingqamuzana lesibindi noma iseli lobuchopho (i-neuron). Lamangqamuzana “afanayo” esitho esisodwa asengase ahluke kwelinye. Indlela ekhonjiswe ngo-2017 yabonisa ukuthi izinhlobo zamaseli ezifakwa kuphrofayili zingahlukaniswa ngomaka amakhemikhali angaphakathi kwe-DNA yeseli. Lezi zimpawu zamakhemikhali ziyiphethini yamaqembu e-methyl axhunywe ku-DNA yeseli ngalinye - okubizwa ngokuthi “i-methylome” yeseli. Nokho, le ndlela inemingcele kakhulu ngomqondo wokuthi ivumela kuphela ukulandelana kweseli elilodwa. Abacwaningi e-Oregon Health and Science University, eU.SA, banweba le ndlela ekhona kakade ukuze iveze izinkulungwane zamaseli ngesikhathi esisodwa. Ngakho-ke, le ndlela entsha ibonisa ukwanda okuphindwe izikhathi ezingu-40 kuyo yonke futhi yengeza inhlanganisela eyingqayizivele ye-DNA yokulandelana (noma izinkomba) kuseli ngayinye efundwa ithuluzi lokulandelanisa. namaseli egundane ukuze embule ulwazi cishe kumaseli angawodwa angama-3200. Ababhali bayaqaphela ukuthi ukufunda ngesikhathi esisodwa nakho kuholela ezindlekweni ezincishisiwe ezehlisele cishe ku-50 cents (USD) uma kuqhathaniswa no-$20 kuya ku-$50 ngeseli eyodwa, okwenza imitapo yolwazi ye-methylation ye-DNA yeseli elilodwa ingabizi kakhulu.

Izici zomuthi wokunemba

Lolu cwaningo luyisiqalo futhi lunamandla okuqhubekisela phambili ukuthuthukiswa komuthi onembayo noma ukwelapha okunembayo ezimeni eziningi lapho ukuhlukahluka kohlobo lweseli noma ukwehlukahlukana kukhona njenge umdlavuza, ukuphazamiseka okuthinta ubuchopho (i-neuroscience) kanye isifo senhliziyo isifo esithinta inhliziyo. Nokho, kusekude ngaphambi kokuthi samukele umuthi onembile ngoba udinga ukubambisana okuhle phakathi kwabasebenzi bekhemisi nabezempilo okungase kuhlanganise ababambiqhaza, ochwepheshe abavela emikhakheni ehlukahlukene, ukuhlaziya idatha kanye namaqembu okuvikela abathengi. Intuthuko yesayensi nezobuchwepheshe isiza ngempela ekuthuthukisweni kochwepheshe, izindlela zokwelapha ezihlosiwe nokudala izixazululo ezigxile kakhulu esigulini, ngenxa yalokho ikusasa lomuthi onembile libukeka liqhakazile. Uma ukuxilonga sekukhona, "ingqondo" yeziguli ingacutshungulwa futhi iqondwe ukuze iziguli ezinikwe amandla zikwazi ukufuna ulwazi olwengeziwe kanye nokuzikhethela ngezinketho ezinazo eziholela emiphumeleni engabizi kakhulu.

Esicini esibi somuthi onembile osuselwe kumamolekyuli ukuthi awusebenziseki noma awuthengeki kuzo zonke izindawo zokwelapha uma sikhuluma ngawo nakuzo zonke izinhlelo zezempilo, futhi ngeke kube ngcono noma nini maduze esikhathini esizayo. Ukuqoqa lonke ulwazi oluqondene neziguli kuqala kudinga ukugcinwa kwedatha okukhulu. Lolu lwazi, ikakhulukazi idatha yofuzo isengozini yokuhlaselwa ku-inthanethi ngakho-ke ukuphepha nobumfihlo kusengcupheni, nokusetshenziswa kabi kwedatha enjalo. Idatha eqoqwayo kakhulu ivela kumavolontiya ngakho-ke siyakwazi ukuqoqa iphesenti kuphela laso sonke isibalo sabantu esingathinta idizayini yobuchwepheshe. Futhi isici esibaluleke kakhulu “ubunikazi” bale datha, ubani umnikazi nokuthi kungani, lowo umbuzo omkhulu okusamele udingidwe. Izinkampani ze-Pharma kuzodingeka zihlanganyele ngokubambisana kakhulu nohulumeni nabahlinzeki bezokunakekelwa kwezempilo ukuze baqoqe ukwesekwa kanye nomfutho wezindlela zokwelapha ezihlosiwe kodwa idatha yofuzo yangasese enikezwa izinkampani ezizimele iyinkulumompikiswano enkulu.

Ezifweni ezingamahlalakhona ezifana nesifo sikashukela noma izimo ezihlobene nenhliziyo, umuthi wokunemba osebenza ngedijithali ungenye indlela okungukuthi okugqokekayo okuvamise ukukala futhi okuyisixazululo esithengekayo uma kuqhathaniswa nokuhlinzeka ngokunakekelwa komuntu siqu okumba eqolo. Futhi, yonke imithi ayikwazi ngempela ukuba umuthi onembayo ngoba izinhlelo zezempilo emhlabeni wonke sezivele zithwele kanzima futhi cishe zingenakwenzeka futhi zimba eqolo ukuhlinzeka ngemithi yokwelapha ehlosiwe yamaqembu amancane abantu, noma lawo asemazweni anemali engenayo emaphakathi noma anemali engenayo ephansi. Lezi zindlela zokwelapha kufanele zihlinzekwe ngendlela eqondile nakuba engaphandle futhi egxile kakhulu. Izibalo zokunakekelwa kwezempilo ezisekelwe kubantu zizoqhubeka zibalulekile, nezindlela zokwelashwa ezinembayo ezithuthukisa lezi ezindaweni zokwelapha ezikhethiwe kanye nezinhlelo zokunakekelwa kwezempilo.Kusekude kakhulu ngaphambi kokuba senze imephu ngofuzo inani labantu, sihumushe futhi sihlaziye imininingwane, sigcine it ngokuphepha nangokuvikelekile, futhi ithuthukise izincomo eziqondene nawe kanye nokwelashwa kokwelapha.

***

{Ungafunda iphepha lokuqala locwaningo ngokuchofoza isixhumanisi se-DOI esinikezwe ngezansi ohlwini lwemithombo ekhonjiwe}

Umthombo (s)

UMulqueen RM et al. 2018. Isizukulwane esibi kakhulu samaphrofayili e-DNA methylation kumaseli angawodwa. Imvelo ye-Biotechnologyhttps://doi.org/10.1038/nbt.4112

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