Roopenian 2 (2017)

Epidermolysis bullosa (EB) yana da alaƙa da raunin tsari a cikin fata da membranes na baki da na hanji (gut). Ya ƙunshi nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan da ke da alaƙa da maye gurbi (ko kurakurai) a cikin kwayoyin halitta daban-daban, waɗanda 18 aka gano ya zuwa yanzu. Yana ƙara bayyana cewa abubuwan da ke haifar da kwayoyin halitta na kowane nau'i na EB sun fi rikitarwa fiye da tunanin asali.

Ba a iya danganta EB cikin sauƙi ga lahani na kwayoyin halitta guda ɗaya amma a zahiri babu wani ilimin yadda sauran kwayoyin halitta ke taimakawa ga waɗannan rikice-rikice watau suna shafar tsananin alamun. Rashin ƙarancin kowane nau'i na EB yana sa ya zama da wuya a iya gano wane nau'in kwayoyin halitta ke ciki, yadda waɗannan kwayoyin za su shafi tsinkaya ko sakamako, da kuma sanar da nazarin da zai taimaka wajen samar da ingantattun jiyya.

Burinmu na farko shine haɓaka hanyoyi da kayan aiki don haɓaka avatars ko samfuran EB ɗan adam. Ta wannan hanyar, muna iya yin samfurin kowane nau'i na EB.

Bincikenmu ya sami damar magance batutuwan da suka dace kai tsaye zuwa nau'in EB (JEB) amma tare da darussan da aka koya waɗanda ke ba da labari akan EB gabaɗaya. Mun ƙirƙiri nau'ikan nau'ikan wannan cuta da yawa kuma mun yi amfani da mafi kyawun hanyoyin bincike da injiniyanci don fahimtar tushen asalin halittar JEB.

Wannan aikin ya haifar da fahimtar abubuwan da ba zato ba tsammani game da abubuwan da ke haifar da kwayoyin halitta na EB wanda ba zai iya bayyana ta hanyar binciken asibiti a cikin mutane ba. Ana yin ganewar asali na EB yawanci bisa ga bayyanar cututtuka a hade tare da gano ƙwayoyin cuta na lahani a cikin kwayar EB. Ayyukanmu sun nuna cewa wannan wani bangare ne kawai na labarin. Nazarinmu ya nuna cewa JEB yana da tasiri sosai ta hanyar bambancin kwayoyin halitta a cikin kwayoyin halitta waɗanda da kansu ba sa haifar da rashin daidaituwa, amma suna iya tasiri sosai (ko gyara) tsananin cutar Don haka, JEB, da kuma wasu nau'o'in EB, cututtuka ne masu rikitarwa.

Nazarin mu yana goyan bayan kasancewar aƙalla kwayoyin halitta 7 daban-daban daga “kuskure” na farko wanda ke tasiri sosai ga tsananin JEB. Biyu waɗanda ke yin tasiri mafi ƙarfi suna samar da sunadaran da ke da mahimmanci don kiyaye mutuncin fata. Sakamakonmu ya gano shafuka a cikin waɗannan kwayoyin halitta waɗanda suka fi dacewa su ɓoye waɗannan abubuwan da ake kira tasirin gyarawa. Don haka binciken kwayoyin halitta don haɗa waɗancan rukunin yanar gizon na iya inganta hasashen kwayoyin halitta. Hudu daga cikin masu gyara 7 suna cikin wuraren da ba a haɗa su da EB ba kuma ba tsarin tsarin fata ba.

Mun yi imanin cewa gano waɗannan kwayoyin halitta yana da yuwuwar bayyana sabbin dabarun warkewa don maganin EB.

“Rauni na kowane nau'i na EB a cikin ɗan adam yana sa ya zama da wahala a bayyana abubuwan da ke haifar da kwayoyin halitta, hasashen sakamako na dogon lokaci, da ƙirƙira jiyya. Ta hanyar ƙirƙira samfura yana yiwuwa a gano abubuwan haɗari na ƙwayoyin cuta waɗanda ke haɗuwa da sakamakon asibiti cikin daidaituwa. ”

Dr Derry Roopenian

 

Dr Derry Roopenian

Dr Derry Roopenian Farfesa ne a dakin gwaje-gwaje na Jackson, a Bar Harbor, Maine. Shirin nasa ya yi bayani kan muhimman tambayoyi game da kwayoyin halitta da abubuwan da ke haifar da cututtukan mutane. Yayin da ya mayar da hankali a tarihi ya kasance cututtuka na autoimmune, Dokta Roopenian da tawagarsa an fara jawo su cikin filin EB ta hanyar binciken da suka yi na wani muhimmin sabon samfurin Junctional epidermolysis bullosa (JEB) kuma sun kara jawo hankalin su ta hanyar fahimtar cewa gwanintar su na iya samun gagarumar nasara. tasiri a kan ci gaba da fahimtar wannan da cututtuka masu alaka. Suna amfani da hanyoyin ci gaba da yawa don bincika abubuwan da ke haifar da kwayoyin halitta na JEB da ƙirƙirar sabbin samfura waɗanda za su ba da damar bincikar musabbabi da jiyya na EB.