Emindenini eminingi, ukuhlala nesifo esingavamile kusho ukubhekana nohambo olude, olungaqinisekile, nolunobungcweti bezokwelapha , lapho ukuxilongwa kungathatha iminyaka. Okwamanje, ukuvakasha, ukuhlolwa, kanye nokudluliselwa kwabanye kuyanqwabelana, futhi umuzwa wokuhamba ebumnyameni uba nzima kakhulu.
Ngesikhathi esifanayo, eSpain naseYurophu yonke, amathuluzi amasha obuhlakani bokwenziwa, amaphrojekthi ocwaningo olusezingeni eliphezulu, kanye namanethiwekhi okusekela izakhamuzi ayavela , konke kuhloswe ukwenza lula le ndlela. Kusukela kuma-algorithms akwazi ukufunda izinkulungwane zamarekhodi ezokwelapha kuya ezinhlanganweni eziphonsela inselelo ubuholi, uhlelo lwezifo olungavamile luqala ukuqina.
I-AI yaseSpain ekwazi ukubona izifo ezingavamile kumarekhodi ezingane
Enye yentuthuko ephawulekayo ivela eNyuvesi Kazwelonke Yezemfundo Ekude (i-UNED) , ngokubambisana noMnyango Wezempilo Wesifunda saseMadrid. Ithimba elivela eMnyangweni Wezilimi Nezinhlelo Zamakhompyutha lithuthukise ithuluzi lobuhlakani bokwenziwa elikwazi ukuhlonza nokuhlukanisa izifo eziyi-19 ezingavamile emibikweni yezokwelapha yezingane ezibonwe ekunakekelweni okuyinhloko.
Lolu cwaningo, olushicilelwe kumagazini i-Scientific Reports , lusebenzisa cishe amanothi ezokwelapha angempela angu-250.000 abhalwe odokotela bezingane njengesiqalo salo . Lezi yimibhalo ebhalwe emisebenzini yansuku zonke, ngaphandle kwamathempulethi noma amagama ajwayelekile ngokuphelele, okwenza kube nzima kakhulu ukuhlaziya kwabo okuzenzakalelayo.
Ukuze babhekane nalolu bunzima, abacwaningi baklame uhlelo oluhlanganisiwe oluhlanganisa amasu olimi athuthukile namamodeli olimi asekelwe kuzakhiwo zeTransformer , izakhiwo ezifanayo ezisekela amathuluzi amaningi okucubungula ulimi lwemvelo anamandla kakhulu namuhla.
Esigabeni sokuqala, i-AI yenza uhlobo "lokuhlola okuzenzakalelayo": ihlola imibhalo ukuze ithole ukukhulunywa okungenzeka kwezifo ezingavamile - kusukela ezifweni zofuzo ezingavamile kuya ezinkingeni ze-metabolic ezingavamile - futhi iphawula lezo zingcezu ngamathuba aphezulu okuqukethe icala elifanele.
Lokhu kuhlunga kokuqala akugcini lapho. Amanothi akhethiwe abe esedluliselwa kochwepheshe, ababukeza amarekhodi ngesandla futhi baqinisekise ukuthi ayahlangabezana nemigomo ye-State and Regional Registry of Rare Diseases . Ngenxa yalo mzamo wokubambisana phakathi kobuchwepheshe kanye nomkhuba wezokwelapha, kusungulwe ingobo yomlando wezokwelapha onamachashazi angaba ngu-1.900, enye yezinsiza eziphelele kakhulu ezitholakala ngesiSpanishi zalezi zinhlobo zezifo.
Imiphumela iyathembisa: amamodeli athuthuke kakhulu alungile ezimweni ezingaphezu kuka-78% , isilinganiso esihlanganisa ukuthi zingaki iziguli ezitholakele nokuthi zingaki zazo ezitholakale kahle. Lokhu kuwukuthuthuka kwamaphesenti angaphezu kweshumi uma kuqhathaniswa nezinhlelo zangaphambilini, ikakhulukazi ezifanele emkhakheni lapho idatha ingekho khona futhi ingafani kakhulu.
Lokhu kunemba kuncike ekuzivumelaniseni okuhle kakhulu neSpanishi yezokwelapha : uhlelo luhlukanisa phakathi kokuxilongwa okuqinisekisiwe nomlando womndeni, luphatha ukuphika (isibonelo, lapho udokotela enqabela isifo) futhi luyakwazi ukubona ukukhulunywa okungaqondile, okungathi ekuqaleni, kungabonwa.
Kusukela kusichazamazwi esilula kuya ku-AI eqonda ulimi lwezokwelapha
Ngemuva kwalolu hlelo kulele inani elikhulu "lokusebenza ngamapayipi" olimi ngaphambilini. Ithimba le-UNED laqala ngesichazamazwi esiqukethe izifo ezingavamile ezingaphezu kuka-9.000 kanye nezinhlobo zazo , ezihlanganiswe ne-Orphanet, indawo enkulu yomhlaba wonke egxile kulezi zifo.
Emtholampilo, isifo esifanayo singabhalwa ngezindlela eziningi: njengebizo elifanele, njengesifinyezo , ngencazelo yezimpawu, noma ngisho nangokuhlanganisa amagama esiNgisi nawesiSpanishi . Ukuze babambe konke lokhu kuguquguquka, abacwaningi bakhiqize amagama acishe abe ngu-21.000 alinganayo.
Ngokusekelwe kulolo lwazi, i-AI ihlole amanothi ezokwelapha, ifuna izingcezu ezibalulekile ezinamabizo ezokwelapha kanye nezichasiso ezingahambisana nanoma yiziphi zalezo zifo. I-algorithm yokukhipha amagama isize ekunciphiseni umsindo, ivumela uhlelo ukuthi lugxile kokuqukethwe okufanele ngempela.
Okulandelayo, indlela yokufanisa "isikhwama samagama" iyaqala ukusebenza , okuvumela ukuthi kutholakale isifo noma ngabe ukuhleleka kwamagama kushintshile noma kukhona ukushintshashintsha okuncane ekupeleni. Lokhu kuyasiza, isibonelo, lapho udokotela wezingane echaza isifo ngaphandle kokunamathela ngokuqinile ku-ilebula yencwadi.
Ukuze kugwenywe imiphumela emibi engamanga, le nqubo ihlanganisa imithetho ethile yokulahla ukukhulunywa okungacacile noma amagama afingqiwe angabazekayo , kanye nemodyuli yokuthola ukuphika kanye nenye yomlando womndeni. Umqondo uwukugwema ukubala ingane njengecala uma udokotela esusa lesi sifo kuphela noma ebhekisela esihlotsheni esinaso.
Ukuqinisekiswa kwezokwelapha kanye nokudalwa kwebhange lamacala angempela
Lapho amanothi afanele akhethiwe, iphrojekthi yangena esigabeni esihamba kancane kodwa esibalulekile. Iqembu lochwepheshe bezempilo abane libukeze amarekhodi ezokwelapha ukuze liqinisekise ukuthi, ngale kokushiwo, isiguli sihlangabezane yini nezindinganiso ezisemthethweni zokuxilonga isifo esingavamile.
Umphumela uba yisethi yedatha ebhalwe ngokucophelela, enamarekhodi ezokwelapha ayi-1.900 aqoqwe ngesiguli futhi ahlukaniswe ngezifo eziyi-19 noma isigaba samacala alahliwe. Lolu hlobo lwezinto lubaluleke kakhulu emphakathini wesayensi ngoba luvumela ukuqeqeshwa nokuhlolwa kwamamodeli amasha e-AI emkhakheni lapho, ngokwencazelo, amacala angakaze abe maningi khona.
Ukuhlaziywa kwembule nephethini eyaziwayo kulo mkhakha: ezinye izifo zinerekhodi eziningi kakhulu kunezinye , kangangokuthi nakuba ezinye izifo zinezibonelo eziningi, ezinye zivela izikhathi ezimbalwa kuphela. Lokhu kungalingani kwenza izinto zibe nzima kuma-algorithms kanye nodokotela, futhi kungenye yezinselele ezinkulu zokwandisa ukusetshenziswa kwe-AI kuze kube yizifo ezingavamile.
Naphezu kwale mikhawulo, abacwaningi bagcizelela ukuthi le ndlela ivula umnyango wokuhlanganisa i-AI ezinqubweni zezempilo zomphakathi ezijwayelekile, isibonelo ngokusekela amaqembu okunakekelwa okuyisisekelo ekufundeni okuhlelekile kwezinkulungwane zamanothi emitholampilo abuyekezwa ngesandla njengamanje.
Amarekhodi aqinile kanye nokuqapha okuhlelekile kangcono
Iphrojekthi ye-UNED ihambisana nezinhlelo ezifana neMadrid Regional Registry of Rare Diseases (SIERMA) , ezikhuthazwa yi-Directorate General of Public Health yoMphakathi. Umqondo oyisisekelo ukuqinisa ukuhlonza kwamacala kusenesikhathi ezingeni lokunakekelwa okuyisisekelo nokuthuthukisa ukuqapha kwezifo.
Ukuba namathuluzi azenzakalelayo akusho ukuthi kuzofakwa ochwepheshe esikhundleni, kodwa kunalokho kusekela umsebenzi wabo emisebenzini ephindaphindwayo neyokuhlola . Esikhathini esiphakathi, izinhlelo zalolu hlobo zingasiza ekutholeni amaphethini, ziqalise izexwayiso zakuqala, noma zibone izindawo lapho kugxilwe khona ukuxilongwa okuthile.
Ngokusho kwababhali, lezi zinhlobo zentuthuko zibeka isisekelo sendlela yokunakekela impilo ngokushesha kwezifo ezingasabalele kangako , ikakhulukazi ezinganeni. Ngesikhathi esifanayo, zizokwenza kube lula ukuthola idatha esezingeni eliphezulu yocwaningo kanye nokuhlela izinsiza.
Ubuhlakani bokwenziwa ukuze kuchazwe izinhlobo ezingavamile zofuzo
Ukuthola izifo eziningi ezingavamile kuhilela ukuqonda ukuthi kwenzekani ku-DNA yomuntu ngamunye. Inkinga ukuthi sonke sinezinhlobo eziningi zezakhi zofuzo , futhi zimbalwa kuphela ezibangela lesi sifo.
Ithimba lamazwe ngamazwe elisebenzisana neHarvard Medical School lisungule imodeli ye-AI, ebizwa ngokuthi i-popEVE , ehlose ukucacisa lesi simo. Leli thuluzi linikeza uhlobo ngalunye isilinganiso sobunzima esilinganiswe kuzo zonke izakhi zofuzo , okuvumela abacwaningi ukuthi babeke phambili ukuthi yiziphi izakhi zofuzo okungenzeka kakhulu ukuthi zingemuva kwezimpawu zesiguli.
Ukuze kufezwe lokhu, imodeli ihlanganisa ulwazi lokuziphendukela kwemvelo, amamodeli olimi lwamaprotheni, kanye nedatha yezakhi zofuzo zabantu . Le nhlanganisela ihlanganisa ipulatifomu eyodwa okwakukhulunywa ngayo ngaphambilini ngamathuluzi amaningana ahlukene.
Ocwaningweni olushicilelwe ku- Nature Genetics , abacwaningi babonise ukuthi i-popEVE iyakwazi ukuhlukanisa izinhlobo ezibangela izifo ezingafani nezingenabungozi , ihlukanise izinguquko ezihlobene nezifo eziqala ebuntwaneni noma eziqala kubantu abadala, futhi ibone nokuthi uhlobo oluthile luyifa noma luvela ngokuzenzakalelayo, ngaphandle kokwethula ukucwasa okufanele ngenxa yemvelaphi yendawo.
Imodeli ihlolwe ezigulini ezingaba ngu-30.000 ezinezinkinga ezinkulu zokukhula futhi ezingenakho ukuxilongwa okucacile . Cishe engxenyeni yesithathu yamacala, inikeze ulwazi olubalulekile ekuxilongweni futhi yathola izinhlobo ezingu-123 ezihlobene nokukhubazeka kokukhula ezazingakaze zihlotshaniswe nanoma yisiphi isifo ngaphambili; ezingaphezu kwamashumi amabili zalezi zakhi zofuzo seziqinisekisiwe kakade ngamanye amaqembu ocwaningo.
Ngaphandle kokuxilongwa, i-popEVE inikeza izinkomba zezinhloso ezintsha zokwelapha ngokukhomba ukuthi yiziphi izinguquko zofuzo ezishintsha kakhulu ukusebenza kweprotheni. Ababhali bahlanganisa amaphuzu abo kudathabheyisi yomphakathi njenge-ProtVar ne-UniProt, ukuze odokotela nabacwaningi emhlabeni wonke bazuze kuzo.
Izindlela ezintsha zokuqonda amanethiwekhi amaprotheni ahilelekile
ESpain, izindlela ezintsha ezivela ku-biology yezinhlelo nazo ziyakhuthazwa. Iqembu labacwaningi abavela eNyuvesi yaseMalaga (iqembu le-SIBIUMA) , ngokubambisana ne-CIBERER kanye ne-National Institute of Bioinformatics, liveze indlela yokuhlaziya amanethiwekhi okuxhumana ayinkimbinkimbi phakathi kwamaprotheni ahlobene nezifo ezingavamile.
Abalobi baqhathanisa la manethiwekhi "nenethiwekhi enkulu yokuxhumana nabantu" lapho iphrotheni ngayinye ingumuntu futhi ukusebenzisana kuyibungani bayo. Kuze kube manje, izindlela eziningi zaphoqa iphrotheni ngayinye ukuba ibe semphakathini owodwa kuphela, okwenza kube lula kakhulu iqiniso lapho i-molecule eyodwa ingahileleka ezinqubweni eziningana zezinto eziphilayo ngesikhathi esisodwa.
Isu elisha livumela amaprotheni ukuba abe ngamalungu amaqembu amaningi asebenzayo ngesikhathi esisodwa , okufana kakhulu nalokho okwenzeka empilweni yangempela lapho umuntu enezindilinga eziningana zabangane. Lokhu kusiza ukuhlonza amamojula amaprotheni angabandakanyeka ekubonakalisweni okuhlukene kwesifo esifanayo esingavamile noma ezifweni eziyinkimbinkimbi ezihambisana naso.
Lezi zindlela zokuthuthukisa zivula indlela yamasu amasha okuxilonga nawokwelapha , njengoba zenza kube lula ukuthola amaphuzu abalulekile kunethiwekhi lapho ukungenelela kwezokwelapha kungaba nomthelela omkhulu khona.
IYurophu iphikisana ngokuthi ingahlela kanjani kangcono ukunakekelwa kwesifo sokuwa kanye nezifo ezingavamile
Ukusungula izinto ezintsha kwezobuchwepheshe kuphela akwanele ngaphandle kokuhambisana nezinguquko kwezempilo kanye nezinhlangano zomphakathi. IPhalamende laseYurophu libambe umhlangano othi “Isifo Sokuxhuzula Nezifo Ezingavamile: Kusukela Ekuzimeleni Kuya Ekusebenzisaneni ,” ohlelwe yi- Spanish Epilepsy Federation (FEDE) kanye ne-International Bureau for Epilepsy (IBE).
Lo mcimbi uhlanganise abamele izikhungo, izinhlangano zeziguli, odokotela kanye nezinkampani ukuze kucelwe izinqubomgomo ezicabangela izici zesifo sokuwa kanye nezifo ezingavamile , kanye nokuthuthukisa ukuxhumana phakathi kwamazwe nezikhungo zaseYurophu.
Phakathi kwezibonelo eziveziwe , i-EpiAlliance ivelele , isinyathelo saseSpain esihlanganisa imiphakathi yesayensi, izinhlangano zeziguli, kanye nezinhlangano ezisebenzisanayo ngenhloso ecacile: ukwakha imodeli yokunakekelwa ehlangene egxile ezidingweni zangempela zabantu abanesifo sokuwa . Le ndlela yokubambisana ibeka iSpain njengesilinganiso esingaba khona semikhuba engadluliselwa kwezinye izinhlelo zezempilo zaseYurophu.
Abahlanganyeli baxhumanise le mizamo noHlelo Lokusebenza Lomhlaba Wonke Lwe-World Health Organisation on Epilepsy and Other Neurological Disorders (IGAP). I-FEDE ihumushe lo mbhalo wamazwe ngamazwe waba umhlahlandlela onezinhloso ezincane ezingu-22 eziqondile nezingokoqobo , ezakhiwe ngesikhathi esifushane ngenxa yokubambisana okuphezulu ngendlela engavamile.
Inhlangano igcizelela ukuthi abantu abanesifo sokuwa eYurophu basabhekene nezidingo ezintathu eziphuthumayo: ukufinyelela, ukuqonda, kanye nokulingana . Inselele ayigcini nje ekuxilongweni noma ekwelashweni; ihlanganisa nokucwaswa komphakathi, umthelela ongokomzwelo, kanye nobunzima bokuthola ukunakekelwa okukhethekile ngesikhathi esifanele nangokufanele.
Izinhlangano ezingaphambili: kusukela ezikhalweni kuya ezinsizakalweni eziqondile
Nakuba kuxoxwa ngamasu amakhulu, yizinhlangano zomphakathi ezihlinzeka ngosizo olubalulekile emindenini esemhlabeni. Edolobheni lase- Elche , i-Association for Rare Diseases and Mental Health (AERELX) igxeke obala ukuntuleka kokusekelwa okusebenzayo kwemindeni ebhekene nezimo ezimbi kakhulu ezihlobene nezifo ezingavamile nezinkinga zempilo yengqondo.
Le nhlangano ilandisa ngecala lamuva nje lomama okhathele obhekene nephupho elibi likahulumeni eyedwa , naphezu kokufuna usizo ezinsizeni ezahlukahlukene zomphakathi. I-AERELX ichaza le mindeni "njengaleyo engafaneleki" ezinhlelweni ezijwayelekile, ekugcineni iba abelaphi, abanakekeli, nabahlengikazi ngaphandle kokuphumula noma ukwesekwa okwanele.
Esitatimendeni sayo, inhlangano ibeka inkinga ngaphakathi komongo obanzi, obonakala ngokwanda kokuzibulala kwentsha kanye nokuntuleka kwezimpendulo ezilinganayo ezivela ezinhlanganweni zikahulumeni. Bafuna izinsiza eziqondile kakhulu: izikhungo zasemini, izinhlelo zokunakekelwa kwesikhashana, izindawo zokwelapha, amaqembu okungenelela okusheshayo, kanye nezinqubomgomo zokuvimbela ezidlula nje imikhankaso yobudlelwano bomphakathi.
Umyalezo oyisisekelo ucacile: lokhu akuphathelene nokucela umusa, kodwa mayelana nokufuna amalungelo . I-AERELX isikhumbuza ukuthi ngemuva kwefayela ngalinye lamacala kukhona izimpilo ezisengozini, futhi ithembisa ukuqhubeka nokusekela labo abadinga usizo, ngenkathi ixwayisa nokuthi ngeke iyeke ukubika wonke amacala angaphendulwa yizikhungo.
Indima yamakhansela endawo: isibonelo sikaMazarrón
Ezingeni lendawo, amanye amakhansela amadolobha aqinisa ukuzibophezela kwawo ezifweni ezingavamile. UMkhandlu Wedolobha laseMazarrón (Isifunda saseMurcia) usayine isivumelwano esisha sokusebenzisana ne- D'Genes Rare Diseases Association , ngenhloso yokuhlanganisa ukwesekwa okuqondile kwabantu abanezimo ezingavamile, ezingatholakali, noma ezikhubazekile kumasipala.
Isivumelwano sihlanganisa umnikelo wezezimali kamasipala ezinsizeni zokusekela ezifana nezinsizakalo zomphakathi, ukwelashwa ngenkulumo, ukungenelela kwezemfundo, ukuvuselelwa kwengqondo, ukwesekwa kwengqondo, kanye nokwelashwa ngomculo . Ngokusho kwenhlangano, imindeni engaphezu kuka-60 kumasipala izuza kulezi zinsiza ezikhethekile.
Kumkhandlu wedolobha, lesi sivumelwano siqinisekisa ukunakekelwa komuntu siqu nochwepheshe kulabo abathintekile. Ku-D'Genes, simelela umzila wokuphila oqinisekisa ukuqhubeka kwesikhungo sokunakekelwa okuqondile futhi sivimbele amaphrojekthi abalulekile omphakathi ukuthi athembele kuphela ekuxhasweni ngemali okukodwa.
Lolu hlobo lwesivumelwano lubonisa ukuthi uhulumeni wendawo angaba kanjani isixhumanisi esiyisisekelo phakathi kwamasu amakhulu ezempilo kanye neqiniso lemindeni , esekela izinhlangano ezinolwazi nezimpande endaweni.
Izinhlelo zobumbano eziphakamisa ulwazi nokusekela ucwaningo
Inethiwekhi yezinhlangano ezixhumene nezifo ezingavamile ayigcini nje ekuhlinzekeni ukunakekelwa noma ukuvikela. Kuvela namaphrojekthi ahlanganisa ezemidlalo, amasiko kanye nokuqwashisa umphakathi ukuze kubonakale lezi zimo futhi kuqoqwe imali yocwaningo.
I-Renault Group Spain Foundation, ngomncintiswano wayo wangaphakathi othi “Ingabe nisebenzisana ne-NGO?” , inikeze imiklomelo kulo nyaka ezinhlelweni eziningana zosizo ezisekelwa abasebenzi bayo. Phakathi kwazo kukhona inhlangano ethi “On the Road for Rare Diseases” , esePalencia, ehlela izinselelo zezintaba, imizila yokuhamba ngezinyawo, neminye imicimbi yokuqoqa imali nokuqwashisa ngezifo ezingavamile.
Le nhlangano, eyasungulwa ngo-2018, isebenza ngaphansi kwesiqubulo esithi "Ukwenza okungabonakali kubonakale ," ngenhloso yokusondeza la maqiniso emphakathini jikelele nokulwela ilungelo lokucwaninga. Umnikelo we-€4.000 ovela kulo mncintiswano wengeza eminikelweni esivele yenziwe kwezinye izinhlangano ezifana ne-ASPACE Valladolid kanye ne-Cris Cancer Foundation.
Lezi zinhlobo zezinhlelo zezinkampani zibonisa indlela izinkampani ezingasebenzisa ngayo ukuzibophezela kwabasebenzi bazo ezinhlanganweni zomphakathi , zinikeze uxhaso oluqondile, futhi ngesikhathi esifanayo, ukubonakala ezinhlanganweni ezivame ukusebenza ngezinsizakusebenza ezilinganiselwe kakhulu.
Ukuhlanganiswa kokusungula izinto ezintsha kwesayensi, amathuluzi edijithali, izinhlangano zaseYurophu, kanye nokusekelwa kwendawo kudweba isithombe lapho izifo ezingavamile seziqala ukuthandwa khona ohlelweni lomphakathi. Kusenendlela ende okufanele ihanjwe—kusukela ekwenzeni lula ukuxilongwa kuya ekuqinisekiseni izinsiza ezizinzile zemindeni esengozini kakhulu—kodwa ukuhlangana kocwaningo, izinhlangano, kanye nezinhlangano zikahulumeni kukhombisa ukuthi impendulo ayisaxhomekile kumuntu oyedwa, kodwa kunalokho kunethiwekhi ebanzi futhi exhumene kakhulu.
