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.
Sauƙaƙe gwajin kwayoyin halitta don kowane nau'in EB
Hanya mai rahusa, mafi sauri don jera kwayoyin halittar EB na iya nufin ganewar asali a baya, yana baiwa iyalai ƙarin fahimtar tasirin cututtuka da samun tallafin da ya dace.
Dokta Ene-Choo Tan yana aiki a wani asibiti a Singapore inda mutane 12-15 da ke da alamun EB, bayan sun yarda da gwajin kwayoyin halitta, za su ba da karamin samfurin jini. Wannan aikin zai jera kwayoyin halittar da aka sani suna shiga cikin EB ta amfani da hanyoyi daban-daban don ganowa da haɓaka hanya mafi kyau don samun ingantaccen sakamako cikin sauri.
Kara karantawa a cikin shafin mai binciken mu.
Hoton hoto: Cibiyar Nazarin Halittar Halittu ta Ƙasa (NHGRI).
Game da kudaden mu
| Jagoran Bincike | Dr Ene-Choo Tan |
| Institution | Asibitin Mata & Yara na KK, Singapore |
| Nau'in EB | Duk nau'ikan EB |
| Hanyar haƙuri | 12-15 mutane da za a gwada genetically don EB |
| Adadin kuɗi | £10,500 |
| Tsawon aikin | 1 shekara |
| Fara kwanan wata | 1 Maris 2024 |
| DEBRA ID na ciki | GR000044 |
Bayanan aikin
Masu bincike sun yi tafiya zuwa ƙasashe daban-daban na kudu maso gabashin Asiya don yin aiki tare da likitocin gida a kan ganewar asali da kula da marasa lafiya na EB. Suna amfani da sabbin fasahar jera dogon karantawa don gano sauye-sauyen kwayoyin halitta waɗanda tsofaffi, fasahar jerin gajeruwar karatu suka ɓace.
Jagoran bincike: An horar da Dr Tan a matsayin masanin ilimin kwayoyin halitta, tare da Jagoran Kimiyyar Kimiyya daga Jami'ar Wisconsin - Madison da PhD daga Cibiyar Kwayoyin Halitta da Halittu.
Co-bincike: Dokta Koh likitan fata ne na yara tare da sha'awa ta musamman ga cututtukan fata na kwayoyin halitta, gami da EB. Ya taimaka wajen kafa DEBRA Singapore kuma akai-akai yana haɗin gwiwa tare da sauran likitocin likitancin yara daga ko'ina cikin yankin don sarrafa marasa lafiya tare da EB.
"Ko da yake ana iya gano wasu lokuta a asibiti, abubuwan da suka wuce gona da iri da kuma abubuwan da suka shafi shekaru suna sa ya zama ƙalubale don yin cikakken ganewar asali na takamaiman nau'in. Samun ganewar asali na kwayoyin halitta a cikin EB zai ba da damar ganewar asali na takamaiman nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'in nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i) wanda yake da mahimmanci ga tsinkaye na dogon lokaci da kuma kula da bayyanar cututtuka masu dacewa.… dangi, kuma yana jagorantar yanke shawara kan tsarin iyali.”
- Dr Tan
Sunan baiwa: Inganta ƙwayar ƙwayar cuta ta epidermolysis bullosa ta hanyar dogon karantawa.
Epidermolysis Bullosa (EB) wani yanayi ne da ba kasafai ake samun raunin fata ba, wanda ke haifar da blisters da yashwa a kan ƙananan rauni. A wasu nau'ikan EB, tabo na iya faruwa na biyu zuwa blisters da yashwa. Baya ga fata, EB kuma na iya shafar filayen mucosal da ke cikin layi na epithelium, kamar baki, esophagus, gastrointestinal tract, urinary tract, da idanu. Tabo a cikin waɗannan kyallen takarda na iya faruwa, yana haifar da ƙarin rikitarwa kamar takura. EB kuma zai iya haifar da wasu matsaloli kamar anemia, rashin girma girma, da al'amurran da suka shafi orthopedic, da kuma ƙarin haɗari ga wasu nau'in ciwon daji na fata, irin su squamous cell carcinoma. Duk manyan nau'ikan EB guda huɗu (EB simplex, junctional EB, dystrophic EB, da ciwon Kindler) ana haifar da su ta rashin daidaituwar kwayoyin halitta.
Kamar yadda EB ke da nau'i na asibiti tare da nau'in nau'i na tsanani da kuma gabatarwa, yana iya zama da wuya a iya bambanta tsakanin manyan nau'o'in, da kuma fiye da nau'in asibiti fiye da 30, musamman a farkon shekarun rayuwa. Tabbatar da kwayoyin halitta ya kamata a yi don tabbatar da ganewar asali don taimakawa wajen tsinkayar sakamako na dogon lokaci kuma ya jagoranci maganin da ya dace. Adadin nasarar samun sakamako mai kyau ta hanyar gwajin kwayoyin halitta ya bambanta daga 50-90% don hanyoyin da ake amfani da su na zamani Sanger guda ɗaya ko jerin gajeriyar karantawa mai yawa. Ba a yi amfani da jerin dogon karantawa da yawa don bincika ƙwayoyin EB da yawa ba. Fasahar Nanopore da aka daɗe ana karantawa na iya jera guntuwar DNA na dogon lokaci don ba da damar ƙarin cikakken jerin kwayoyin halittar gabaɗaya na iya haifar da mafi kyawu a cikin fallasa maye gurbi na asali, samar da ingantaccen ganewar asali.
Siffofin asibiti na nau'ikan EB iri-iri na iya haɗuwa kuma galibi suna haifar da matsalar ganowa a farkon rayuwa. Gwajin kwayoyin halitta na farko da na gaskiya na iya haifar da saurin ganewa na nau'in EB, yana ba da mafi kyawun tsinkaya da ingantacciyar gudanarwa tare da tsinkaya da saka idanu don rikitarwa.
A halin yanzu, gwajin kwayoyin halitta ta hanyar jeri guda ɗaya ne na kwayoyin halitta da yawa ko exome (yankin da ke ɗauke da kwayoyin halitta), wanda yawanci ke jera gajerun guntu. Tsarin Nanopore na guntu masu tsayi (ciki har da yankunan da ba su da lambar yabo) na iya haifar da haɓakar ƙididdiga mafi girma da kuma buɗe ƙarin bambance-bambancen kwayoyin halitta. Samun sakamako mai kyau na kwayoyin halitta yana da mahimmanci ga marasa lafiya. A cikin lokuta masu tsanani na yara, yana da mahimmanci don samun rufewa ga iyaye da taimako a cikin ciki na gaba. Gano bambance-bambancen kwayoyin halitta a cikin proband kuma yana ba da damar kimanta haɗari ga dangin dangi. Hakanan za'a iya amfani da bayanai akan lahanin kwayoyin halitta don gwajin jigilar jigilar nau'ikan EB inda aka gaji rashin lahani guda biyu daga iyaye biyu waɗanda kowannensu ke ɗauke da kwafi mara kyau. Hakanan za'a iya yin gwajin kwayoyin halitta don gano maye gurbi na kwatsam don manyan nau'ikan EB don gwajin haihuwa ko riga-kafi.
Don ƙarin fahimtar yanayin cututtukan asibiti da ke ƙarƙashin alamun EB, za mu buƙaci ƙarin bambance-bambancen kwayoyin halitta don gano su a cikin majiyyata da yawa don daidaita bayanan ƙwayoyin cuta tare da gabatarwar cututtuka. Bayyana ƙarin bambance-bambancen kwayoyin halitta kuma zai haifar da kyakkyawar fahimtar hanyoyin ƙwayoyin cuta yayin cututtukan cututtukan cuta, wanda zai iya haifar da haɓaka sabbin magunguna da sauran jiyya.
Ni masanin ilimin halitta ne mai sha'awar gano tushen cututtuka tare da sanadin kwayoyin halitta. Mai bincike na shine likitan fata mai sha'awa ta musamman ga EB. Ya kasance mai aiki a cikin yankin EB na gida da kuma a yankin, yana tafiya zuwa wasu kasashen kudu maso gabashin Asiya don yin aiki tare da likitocin gida a kan ganewar asali da kuma kula da marasa lafiya na EB. Mun yi amfani da jerin kwayoyin halitta don gano rashin lafiyar kwayoyin cuta na kwayoyin halitta. Tsarin zamani na gaba ta amfani da fasahar karantawa na ɗan gajeren lokaci (kamar dandamali na Illumina da Ion) yanzu an kafa shi da kyau kuma ya zama ma'auni na kulawa a cikin aikin asibiti amma yana da iyakancewa a cikin kewayon cututtukan ƙwayoyin cuta da zai iya ganowa. Muna aiki kan sabuwar fasahar jera dogon karantawa don fatan gano abubuwan da ba a saba gani ba na kwayoyin halitta waɗanda gajeriyar jerin karatun ta ɓace, waɗanda suka haɗa da manyan gogewa, shigarwa, da kwafi.