Bauer 5 (2017)

Wannan rukunin ya tattara manyan rukunin bincike guda uku a Turai: Gidan EB, Jami'ar Salzburg a Austria; Cibiyar Magungunan Farfadowa, Jami'ar Modena a Italiya da Medizinische Hochschule Hanover, babbar cibiyar maganin dasawa ta Jamus don yin haɗin gwiwa kan muhimmin bincike a EB.

Cibiyoyin suna da ƙwararrun ƙwararrun ƙwararrun ƙwayoyin jikin ɗan adam a cikin dakin gwaje-gwaje ciki har da girma fatar jikin mutum don samar da zanen ƙwayoyin fata waɗanda za a iya amfani da su don maganin ƙonewar fata mai girma. Su kuma kwararu ne a fannin fasahar kwayoyin halitta, wadanda suka hada da yin amfani da kwayoyin cutar da ba su da illa wajen daukar kwayoyin halitta zuwa cikin tantanin halitta wanda sai su shiga cikin DNA na tantanin halitta. Kwayoyin cuta masu iya ɗaukar DNA zuwa cikin sel ana kiran su vectors.

Manufar aikin mai taken "Hada ex vivo genetherapy tare da dashen kwayar halitta don junctional epidermolysis bullosa" shine don haɓaka kayan aikin aminci don ma'anar gwajin asibiti ga marasa lafiya nH-JEB tare da maye gurbi a cikin COL17A1 kwayoyin halitta. Irin wannan gwaji da aka yi a Italiya da Ostiriya sun nuna nasarar wannan hanyar Laminin B3 kwayoyin halitta. Kima na asibiti ya nuna bargawar fata har zuwa shekaru 7 kuma binciken nazarin halittu ya nuna cewa furotin da aka gabatar da maganin kuma har yanzu an bayyana shi (yana nuna sakamako na dogon lokaci na gyaran ƙwayoyin fata).

Ɗaya daga cikin matakan farko na wannan aikin shine haɓaka hanyar aminci don haɗa daidaitattun jerin kwayoyin halitta cikin ƙwayoyin marasa lafiya. Viral vector wata fasaha ce da ake amfani da ita don yin hakan kuma an yi gwajin aminci ga masu yuwuwar vector don gwajin asibiti kuma an zaɓi vectors don babban amincin su.

An ƙirƙira wani takamaiman vector na retroviral wanda ke ɗauke da DNA ɗin COL17A1. Wannan wani nau'i ne na vector wanda aka riga aka yi amfani da shi a cikin binciken da ya gabata kuma an nuna yana da inganci da aminci. JEB keratinocytes (nau'in XVII collagen protein-rauni) a cikin al'adun tantanin halitta da aka bi da su tare da wannan vector sun nuna maido da furcin furotin kwatankwacin sel marasa EB. Koyaya, wannan gyaran bai yi tasiri ga kuzarin sel ko girma ba. Don tantance ko wannan vector zai dace da gwajin gwaji na asibiti, an tabbatar da amincin. Haka kuma sel-wanda ke da hannu tare da wannan nau'in vector sun nuna ingantaccen bayanin martaba. 

Dangane da waɗannan sakamakon an zaɓi vector retroviral wanda ke ɗauke da COL17A1 cDNA don gwajin asibiti. Tare da wannan vector, an gyara ƙwayoyin marasa lafiya wanda ke nufin jerin DNA yana ba su damar samar da ingantaccen furotin mai aiki. Za a yi amfani da waɗannan sel ɗin da aka gyara don shuka zanen fata, waɗanda aka dasa su zuwa wuraren da abin ya shafa na majiyyaci kuma su zama barga da lafiya a can. An gabatar da takaddun da ke da alaƙa ga hukumomin gudanarwa da yawa kuma ana sa ran sakamakon a cikin watanni masu zuwa. An riga an sanar da ƙananan marasa lafiya da suka cika ka'idojin haɗawa game da binciken. An kiyasta cewa za a fara tantancewa zuwa ƙarshen 2017 kuma ana shirin yin dashen farko na 2018.

A taƙaice, wannan aikin ya kafa hanya mai aminci da inganci don gyara ƙwayoyin marasa lafiya na JEB kuma an cimma yarjejeniyar gwaji na asibiti, wanda mai yiwuwa ya fara ɗaukar marasa lafiya a cikin wannan shekara tare da bege don inganta yanayin rayuwarsu tare da gyara juzu'i na kwanciyar hankali na fata. 

Wannan aikin na farko ya ba mu damar haɗa sabbin gwaje-gwajen aminci ga majiyyatan mu waɗanda aka yi musu magani ta ex vivo stem cell/-genetherapy. Bugu da ƙari, an kafa ilimi game da ingantaccen maganin ƙwayoyin cuta don gyara nau'in XVII collagen marasa lafiya na JEB. Bisa ga wannan ilimin, a yanzu a shirye muke mu ci gaba da ƙarin gwaji. "

Farfesa Johann Bauer

 

Farfesa Johann Bauer

Farfesa Johann Bauer shi ne shugaban Sashen Nazarin fata na Asibitin Jami'ar Salzburg. Ya gina kuma ya jagoranci rukunin bincike na gidan EB Salzburg, wanda ya ƙunshi masana kimiyya sama da 20 waɗanda ke aiki akan binciken EB, har zuwa yanzu. Babban sha'awarsa ga haɓaka ingantaccen magani mai aminci da dacewa ga kowane nau'in EB. Bugu da ƙari, ƙungiyar a Salzburg tana aiki akan ƙananan ƙwayoyin ƙwayoyin cuta waɗanda aka tuntuɓi don rage alamun EB don haɓaka ingancin rayuwar marasa lafiya da kuma haɓaka hanyoyin kwantar da hankali na RDEB masu alaƙa da cututtukan squamous cell carcinomas.