McGrath (2014)

Wani sabon kayan aiki mai ban sha'awa, mai ƙarfi wanda ke inganta ikon mu na karanta tsari na ko "jerin" kwayoyin halittar ɗan adam yanzu ana aiki da shi a cikin bincike a cikin EB, buɗe manyan yuwuwar ƙara fahimtar asalin yanayin yanayin. Wannan zai inganta ganewar asali kuma, a cikin dogon lokaci, taimakawa wajen bincike da ke neman magani ga EB. Bugu da kari, bayanan kwayoyin halitta suna da matukar amfani a cikin masu ba da shawara ga ma'aurata da ke cikin hadarin haifar da yara tare da EB da kuma ba da izinin gwajin haihuwa a cikin yanayi mai haɗari.

Yawancin cututtuka suna haifar da mummunan hali na kwayar halitta - an ce ya 'mutated' ko ya canza. Gano kwayoyin halitta (s) da ke da alaƙa da cuta yana ba da kullun ƙaddamarwa don ingantacciyar ganewar asali da haɓaka ingantattun jiyya masu inganci. EB yana ba da ƙalubale sosai, tun da yake yanayi ne mai rikitarwa da ke faruwa a cikin nau'i daban-daban; Ya zuwa yau an gano kwayoyin halitta daban-daban guda 18 da sama da 1,000 daban-daban maye gurbi a cikin su.

Mataki mai mahimmanci lokacin da aka fara tunanin wani yana da EB shine ainihin ganewar asali kuma mai sauri; Bayanan kwayoyin halitta ya sa hakan ya yiwu. Amma yayin da aka kafa bayanan wasu iyalai tare da EB, ga mutane da yawa / iyalai kwayoyin halittar da ke tattare da su sun kasance asiri kuma babu ganewar asali da zai yiwu. Wannan sabuwar dabarar, wacce ake kira 'all exome sequencing' (WES), za ta - ana fatan - za ta ba da damar bayyanar da matsalar kwayoyin halitta a cikin wadannan mutane (dukkan kwayoyin halittar mu tare ana kiran su da kwayar halitta; exome kadan ne daga cikin kwayoyin halitta). genome, amma yana ɗaukar mafi yawan maye gurbi masu mahimmanci a wasu yanayi na cututtuka).

Wannan binciken yana da niyyar amfani da WES don duba iyalai 20 tare da nau'ikan EB marasa ƙima don gwadawa da gano abubuwan da suka dace da maye gurbi. An buga sakamakon farko a cikin wata babbar mujallar likitanci (Birtaniya Journal of Dermatology) a lokacin rani 2014.

.

A baya, an gano kwayoyin halitta ta hanyar daukar kwayar cutar kwayar cutar fata da samfurin jini, sannan kuma binciken binciken dakin gwaje-gwaje da yawa wadanda ba koyaushe suke ba da cikakkiyar amsa ba. Wannan binciken na yanzu ya nuna cewa WES na iya gano maye gurbi cikin sauƙi, mai rahusa da daidai ta amfani da samfurin jini kawai. Don haka ana iya rarraba marasa lafiya da ba a gano su ba kuma za a iya ƙaddamar da maganin da ya dace da sauri; Likitoci kuma suna da mahimman bayanai don ba da shawara ga kwayoyin halitta. Ƙarin ƙarin shine cewa an gano sabon nau'i na EB, wanda ya kara ilimin mu game da yanayin.

Fahimtar abin da ke faruwa a cikin kwayoyin halitta yana ba da tushe wanda ilimi, fahimta da ingantaccen ganewar asali za a iya ginawa da kuma taimakawa waɗancan masana kimiyyar da ke neman jiyya don EB.

"Yin ganewar asali cikin sauri da inganci yana da matukar mahimmanci ga mutanen da ke da EB. Wannan bayanin yana da mahimmanci don haɓaka ƙwayoyin halitta da kuma tsara tsarin kula da lafiya mafi kyau da jiyya na gaba. Kalubalen mu shine ɗaukar bayanan bincike da gabatar da binciken a cikin ayyukan asibiti na yau da kullun. Muna son jerin tsararraki na gaba su zama kayan aiki na yau da kullun yayin bincikar EB.

Farfesa John McGrath

Farfesa John McGrath

John McGrath MD FRCP FMedSci Farfesa ne na Kwayoyin cututtukan fata a Kwalejin King London kuma Shugaban Sashin Cututtukan Fatar Halittu, da kuma mai ba da shawara ga likitan fata a St John's Institute of Dermatology, Guy's da St Thomas' NHS Foundation Trust a London. A baya ya kasance ɗan ƙaramin ɗan bincike na EB mai tallafi na DEBRA kuma ya yi aiki akan binciken EB sama da shekaru 25. Yanzu yana jagorantar da haɗin kai akan ayyuka da yawa na ƙasa da ƙasa don haɓaka kwayoyin halitta, tantanin halitta, furotin da magungunan ƙwayoyi waɗanda zasu iya haifar da ingantattun jiyya ga mutanen da ke zaune tare da EB.