Tsarin kwayoyin halittar EBS

Masu bincike sun dauki mutane 180 tare da EB zuwa yanzu, ko dai EB simplex ko kuma inda ba a san nau'in ba. Sun samar da binciken gano kwayoyin halitta ga 104 daga cikin wadannan mutane kuma, a yin haka, sun gano sauye-sauyen kwayoyin halitta guda 31 da ke haifar da EB, 12 daga cikinsu ba a taba ba da rahoto ba.

Sabunta bidiyo na 2024:

Jagoran bincike: Dr Laura Valinotto mai bincike ne a Majalisar Binciken Kimiyya da Fasaha ta Argentina kuma babban mai bincike (PI) a CEDIGEA. Ta yi MSc a Biotechnology daga Makarantar Biochemistry da Pharmacy a Jami'ar Kasa ta Rosario, Argentina kuma ta sami digiri na uku a Makarantar Biochemistry da Pharmacy a Jami'ar Buenos Aires, tare da aikinta kan cututtukan cututtukan ƙwayoyin cuta na ƙwayoyin cuta na numfashi na yara. cututtuka a cikin Virology Lab a cikin Yara Asibitin R. Gutiérrez. A lokacin da ta kammala digiri na uku, ta fara aikin sa kai da sashen kula da fataucin fata na asibitin don nemo hanyar da za a bi domin gano masu cutar da ke zuwa asibitin gwamnati na yara. Bayan wasu shekaru, ta kasance daya daga cikin wadanda suka kafa Cibiyar Bincike a Genodermatosis da Epidermolysis Bullosa (CEDIGEA), a Jami'ar Buenos Aires (UBA). Anan ta ci gaba da aikinta game da gano cututtukan ƙwayoyin cuta na genodermatoses, tare da binciken ƙwayoyin cuta na ƙwayoyin cuta na yawan jama'a don haɓaka algorithms don aiwatar da ƙimar ƙimar marasa lafiya marasa ƙarfi da gina cikakkun bayanan asibiti da ƙwayoyin cuta na EB don ƙarin fahimtar pathogenesis. cutar.

Masu bincike: Farfesa Graciela Manzur Farfesa ne kuma Shugaban Sashen Nazarin fata a Makarantar Magunguna, Jami'ar Buenos Aires. Ita kwararriyar likitan neonatologist, likitan yara da likitan fata kuma ta yi aiki a matsayin likitan fata na yara a asibitin yara na R. Gutierrez fiye da shekaru 15 inda ta sami damar buɗe sabon sashe na Rare Skin Diseases a Asibiti. Bayan wasu shekaru, kuma tare da ƙungiyoyi masu yawa, ta kafa CEDIGEA, inda ita ce Darakta. Bayan ta ga yara da yawa tare da EB sun girma, ta fahimci wajibcin wurin da za a iya jinyar manya masu cutar EB kuma ta ƙaddamar da cibiyar CEDIGEA ta biyu, na manya, a Asibitin de Clínicas a Jami'ar Buenos Aires.

Dokta Mónica Natale ƙwararriyar ilimin halitta ce da ke da hannu a cikin binciken ƙwayoyin cuta na genodermatoses a Asibitin Yara na R Gutiérrez. Har ila yau, ta kasance daya daga cikin wadanda suka kafa CEDIGEA kuma ita ce mai kula da dakin gwaje-gwaje na kwayoyin halitta, gano sababbin cututtukan EB da kuma samar da sababbin dabarun gano wasu kwayoyin halitta.

“Amfanin mutum ɗaya ga kowane ɗayan majinyatan mu na EB shine cewa za a sami ganewar ƙwayoyin ƙwayoyin cuta don tantance nau'in da nau'in EB da kuma samar da ganewar asali wanda ke da mahimmanci don ba da kulawa mafi kyau da shawarwarin kwayoyin halitta. Amfanin gama kai shine cewa bayanan da aka tattara game da bambance-bambancen yaduwa na iya zama da amfani wajen rage cutar odyssey ga majinyata nan gaba… da bayar da ingantaccen hasashen. Bugu da ƙari, a cikin al'ummomin da ba a gano asalin halittarsu ba, waɗannan binciken na iya bayyana bambance-bambancen da ba a san su ba a baya na bambance-bambancen cututtukan cututtukan da ya kamata a yi la'akari da su yayin da ake ayyana maƙasudin magungunan ƙwayoyin cuta."

- Dr Valinotto

Sunan baiwa: Kwayoyin cuta na Epidermolysis Bullosa Simplex a Argentina.

Ɗaya daga cikin manyan maƙasudin Cibiyar Bincike a Genodermatoses da Epidermolysis Bullosa (CEDIGEA) a Argentina shine samar da duk marasa lafiya na EB tare da cikakkiyar ganewar asali don mafi kyau da kuma yadda ya dace da magance alamun da suke fama da su, sarrafa ciwo, da kuma samar da su. kulawar tsaka-tsaki da suke buƙata, ba tare da la’akari da yanayin zamantakewar su ba. Burinmu a cikin wannan aikin shine mu kwatanta majinyatan mu a asibiti da kuma kwayoyin halitta tunda babu rahotanni da yawa daga EB a Kudancin Amurka. A CEDIGEA, mun sami damar buga irin wannan binciken tare da marasa lafiya na DEB da Kindler, kuma burin mu shine mu kammala da buga binciken marasa lafiyar EBS.

Cibiyarmu don Bincike a Genodermatoses da Epidermolysis Bullosa (CEDIGEA) a Jami'ar Buenos Aires ta bincikar cutar tare da bin marasa lafiya ba tare da inshorar lafiya ba a Argentina. Manufar wannan aikin ita ce gano yaɗuwa da bambancin bambance-bambancen jinsin da ke da alaƙa da EBS a cikin yawan jama'ar mu, wanda ke da tushen da ba a gano shi ba. Samun damar bayar da rahoto idan an sami bambance-bambancen labari a yankinmu da gina bayanan ƙididdiga ko za a iya fahimtar sabbin ƙungiyoyin phenotypegenotype yana da matuƙar mahimmanci. Wannan aikin bincike zai, a lokaci guda, zai ba mu damar ba majinyatan mu marasa galihu tabbataccen ganewar ƙwayoyin ƙwayoyin cuta kyauta.

Tare da taimakon Buenos Aires Faculty da kuma ƙoƙarin ƙwararrun CEDIGEA, mun sami damar samun nasarar aiwatar da wani aikin da ya gabata wanda ya shafi marasa lafiya tare da DEB, inda muka gano marasa lafiya 181 daga iyalai 136 da ba su da alaƙa, gano bambance-bambancen litattafai 36 da sabon nau'in phenotype- ƙungiyar genotype.

Mun sami babban ci gaba a cikin aikinmu a Cibiyar Bincike a Genodermatosis da Epidermolysis Bullosa (CEDIGEA). A halin yanzu, mun dauki majinyata 180 daga iyalai 121 da aka tura mana saboda zargin cutar Epidermolysis Bullosa Simplex (EBS) ko wani nau'in Epidermolysis Bullosa da ba a bayyana ba.

Babban burinmu shi ne yin nazarin kwayoyin halitta don samar da gwajin kwayoyin halitta, kuma a lokaci guda don koyi game da tushen kwayoyin cutar a cikin al'ummarmu. Ya zuwa yanzu, mun yi nazari kan takamaiman kwayoyin halitta kuma mun sami ganewar asali na kwayoyin halitta ga marasa lafiya 104, wanda babban nasara ne. A cikin yin haka, mun gano nau'ikan cututtuka daban-daban guda 31, tare da 12 daga cikinsu ba a ba da rahoto a baya ba a cikin wallafe-wallafen.

Koyaya, ƙalubale sun taso yayin aikinmu. Mun ci karo da jinkiri wajen samun madaidaitan reagents don jerin kwayoyin halitta saboda rashin daidaiton tattalin arziki da canza ka'idoji a cikin kasarmu, tare da farashin kayan aikin dakin gwaje-gwaje yana da kashi 300% sama da shekaru uku da suka gabata. Saboda waɗannan ƙalubalen, dole ne mu sake duba dabarunmu don yin amfani da mafi yawan kuɗin tallafinmu da kuma tabbatar da cikar manufofinmu akan lokaci.

Game da wallafe-wallafe, muna shirya cikakken rubutun don gabatar da bincikenmu. Mun yi imanin cewa ta hanyar yin nazarin irin wannan adadi mai yawa, za mu iya gano ƙayyadaddun bayanai a cikin kowane mai haƙuri da ƙungiyoyin marasa lafiya, kuma wannan bayanan zai zama da amfani don hango ko hasashen yadda cutar za ta ci gaba a cikin marasa lafiya na gaba.

Dangane da shigar da haƙuri, Magdalena da Josefina sun taimaka. Ta hanyar shafin su na “En mi piel”, sun ba da fahimi masu mahimmanci kuma sun ƙirƙiri wani dandamali don majiyyata don raba abubuwan da suka faru. Wannan tsarin kulawa da haƙuri yana jagorantar mayar da hankali kan bincikenmu kuma yana tabbatar da cewa aikinmu yana magance bukatun waɗanda Epidermolysis Bullosa ya shafa da sauran cututtukan fata da ba safai ba.

A taƙaice, duk da ƙalubalen, aikinmu yana ci gaba da kyau, kuma mun himmatu wajen haɓaka bincike a fannin Epidermolysis Bullosa don amfanin marasa lafiya a duk duniya.

Kuma ba za mu so mu rasa wannan damar don gayyatar ku zuwa V Argentine Congress of Genodermatoses da Epidermolysis Bullosa, a cikin kama-da-wane format, a kan Satumba 19th, 20th, da 21st, 2024. Domin ci gaba da sabuntawa, bi mu a kan Instagram @cedigea. .uba

(Daga rahoton ci gaba na Mayu 2024.)