Wannan shafin yanar gizon yana amfani da kukis domin mu iya ba ku damar kwarewa mafi kyau. Ana adana bayanin kuki a cikin burauzarka kuma yana aiki da ayyuka kamar gane da ku idan kun dawo zuwa shafin yanar gizon mu da kuma taimaka wa tawagar mu fahimci wane ɓangaren shafin yanar gizon da kuka samu mafi ban sha'awa da amfani.
CRISPR/Cas9 don gyara halittar RDEB
Gyaran kwayoyin halitta zai iya gyara kurakuran kwayoyin halitta kuma ya haifar da lafiyayyen fata don taimakawa wajen warkar da raunukan DEB.
Dr Sergio López-Manzaneda yana aiki a CIEMAT a Spain akan wannan aikin gyaran kwayoyin halitta don gyara canje-canjen kwayoyin halitta wanda ke haifar da DEB. Wannan aikin yana da niyyar amfani da sabuwar fasahar CRISPR/Cas9 don gyara ɓarnar ɓarna na kwayar halittar collagen-7 (COL7A1) a cikin ƙwayoyin fata da aka girma a cikin dakin gwaje-gwaje. Wannan 'patching' na kwayoyin halitta ya ƙunshi yanke wani ɓangare na kwayar halitta da saka 'patch' tare da jerin aiki. Idan an yi nasara, ana iya amfani da ƙwayoyin fata da aka lalatar da su nan gaba don ƙirƙirar fata mai lafiya don warkar da raunukan DEB.
Kara karantawa a cikin shafin mai binciken mu.
Game da kudaden mu
| Jagoran Bincike | Dr Sergio López-Manzaneda |
| Institution | Jiménez Díaz Foundation, CIEMAT, Spain |
| Nau'in EB | DEB |
| Hanyar haƙuri | A'a |
| Adadin kuɗi | £15,000 |
| Tsawon aikin | 1 shekara |
| Fara kwanan wata | 1 Janairu 2024 |
| DEBRA ID na ciki | GR000042 |
Bayanan aikin
Rabin aikin, masu bincike sun bayar da rahoton cewa, sun sami nasarar kai rabin matsayinsu. 'Patches' na kwayoyin halittarsu suna aiki da kyau fiye da yadda ake tsammani amma sun fi girma. Wannan yana nufin za su buƙaci ƙarin su kuma za su mayar da hankali kan wannan don rabin na biyu na aikin.
Jagoran bincike: Dokta Sergio López-Manzaneda mai bincike ne a CIEMAT tare da ingantaccen tushe a gyaran genome.
Masu bincike: Dr Fernando Larcher mataimakin farfesa ne a fannin ilimin halittu a Universidad Carlos III de Madrid kuma shugaban sashen a CIEMAT (Epithelial Biomedicine Division).
Alex Bassons Bascuñana dalibin PhD ne a cikin rukunin Epithelial Biomedicine na Sashin Innovation na Biomedical a CIEMAT.
Haɗin kai: Dokta Paula Rio kwararre ce ta duniya da aka santa a fannin gyaran kwayoyin halitta da maganin kwayoyin cututtukan da aka gada, daga kimiyyar asali zuwa gwaje-gwajen asibiti.
"Wannan tsarin gyare-gyaren kwayoyin halitta ba na kwayar cutar ba yana neman wani tsari mai rahusa da na duniya don samar da ɗakin karatu na kayan aikin da zai iya magance kowane maye gurbi da aka sani ... A cikin binciken da aka rigaya a gaba, za a yi amfani da kwayoyin "patched" edita keratinocytes da fibroblasts daga marasa lafiya. don samar da daidaitattun fata na bioengineered."
– Dr Sergio López-Manzaneda
Sunan bayar: Facin genome ba na hoto ba na COL7A1.
A cikin wannan aikin, muna ba da shawarar dabarun gyara kwayoyin halitta da ke mai da hankali kan maganin ba kawai maye gurbin maki ɗaya ba amma ƙungiyoyin maye gurbi da ke haifar da RDEB, ta hanyar gyara cikakkun exons da ke ɗauke da su. Wannan “patching-genetic-patching” ya dogara ne akan tsarin gyaran DNA na Homologous Recombination (HR) wanda tsarin CRISPR/Cas9 ya sauƙaƙe. Alamar "faci" suna wakiltar kananan (300-400 tushe nau'i-nau'i) sau biyu secterning hedr Donor don rufe 'yan kwastomomin Col7a1 na ColXNUMXaXNUMX Nau'in VII Colagen. Manufarmu ita ce siffata ( inganci, aminci) da daidaita amfani da waɗannan fasaha tare da ra'ayin samun takamaiman faci a shirye don magance ƙungiyoyin maye gurbi. Fasahar da ba ta hoto ta bidiyo da aka tsara don tsohuwar maganin tantanin halitta na RDEB za ta sauƙaƙe fassararsa zuwa asibitin a farashi mai rahusa.
Ɗaya daga cikin mafi kyawun hanyoyin warkewa don EB shine gyaran kwayoyin halitta ta amfani da fasahar CRISPR/Cas9. A cikin shekaru 7 da suka gabata dakin gwaje-gwajenmu yana aiki tuƙuru a cikin wannan filin yana ba da ƙwaƙƙwaran bayanan hujja da nufin fassara sakamakonsa zuwa asibiti. Yayin da muke gab da aiwatar da aikace-aikacen asibiti tare da ɗayan waɗannan hanyoyin da suka sami sunan Marayu Drug ta Hukumar Kula da Magunguna ta Turai. (EU/3/20/2253), muna ci gaba da neman mafi inganci, mafi aminci da dabarun gyaran genome masu dacewa.
A cikin wannan aikin, muna ba da shawara don gwada sabon tsarin gyara kwayoyin halitta wanda baya buƙatar amfani da ƙwayoyin cuta (duk kayan da aka gabatar da su ta hanyar lantarki guda ɗaya). Manufar ita ce a yi amfani da waɗannan "faci na kwayoyin halitta" don gyara yankunan da suka canza bayan sun yanke wannan yanki na kwayoyin halitta tare da fasahar CRISPR/Cas9. Mun tsara “faci” guda huɗu daban-daban, wannan yana nufin, samfuran masu ba da gudummawa na dsDNA musamman waɗanda aka canza su a ƙarshensu ta hanyar fasahar mallaka ta mai ba da mu (Haɗin fasahar DNA, IDT) don fifita HDR. Waɗannan samfuran sun ƙunshi exons biyu da kewaye (73 da 80, “faci” biyu kowanne) da maki huɗu daban-daban (biyu don Exon 73 da biyu don exon 80). Wannan samfuri (kimanin 300-400 bp) kuma yana rufe maƙwabta exons.
Muna nufin kimanta girman gyare-gyare a cikin "faci" wanda zai ba mu damar magance ƙungiyoyin maye gurbi ko, idan tsarin ya yi aiki sosai, don daidaitawa ga exons a cikin "patches". Mun yi imanin cewa wannan labari, babu hoto ko bidiyo mai zagaya yanar gizo da sauri, dabarun gyara kwayoyin halitta na keɓaɓɓen da za a iya fassara shi cikin sauƙi zuwa asibiti tare da ƙarancin tsadar tattalin arziki.
Mun samu nasarar kai rabin matakan tallafin. Da farko, dabarunmu da nufin sake rubuta kwayoyin halitta ta hanyar amfani da "faci" DNA don rufe nau'i-nau'i na exons (musamman niyya maye gurbi a cikin nau'i-nau'i na exon: 72-73, 73-74, 79-80, da 80-81). Koyaya, facin DNA ɗin da muka yi amfani da shi ya zama ɗan bambanta da abin da muke tsammani. Waɗannan facin na iya sake rubuta kwayar halitta tare da inganci sama da 80%, wanda ya fi yadda aka ruwaito a baya, amma aikinsu yana iyakance ga kunkuntar taga. Idan aka ba wannan, dabarun mu na zamani na 2 yanzu za su mai da hankali kan facin DNA na kowane exon. Don tabbatar da cewa ba mu canza jerin DNA masu lafiya ba, CRISPR/Cas9 “yanke kwayoyin halitta” za su yi niyya ne kawai ga jerin abubuwan da aka canza. Wannan zai buƙaci takamaiman ƙananan RNA don kowane maye gurbi, yayin da ana iya amfani da facin DNA na kowa ga kowane exon. (Rahoto daga Yuli 2024).