Thalassemia Chen Yan

Mu gikorwa gikomeye cyakozwe n’abaganga n’abarwayi barwaye indwara ya sickle cell (SCD) na thalassemia, uburyo bugezweho bwo kuvura hakoreshejwe ikoranabuhanga rya CRISPR/Cas9 bwagaragaje ko buvura 100% mu buryo butangaje mu igeragezwa ry’ubuvuzi. Ubu buryo butanga icyizere gishya ku barwayi babarirwa muri za miriyoni bafite ubwo burwayi bw’amaraso, mbere bwasabaga guterwa amaraso ubuzima bwabo bwose no kuvurwa mu buryo buke.

Urugero rugaragara rw'iyi ntambwe ni urugero rw'umunyeshuri w'imyaka 21 wo muri kaminuza ya Guilin, mu Bushinwa, wari warasanzwe afite indwara ikomeye ya beta-thalassemia afite amezi umunani gusa. Mu myaka irenga makumyabiri, ubuzima bwe bwaterwaga no guterwa amaraso kenshi kugira ngo agire icyo akora. Ariko, gutangiza uburyo bugezweho bwo kuvura imiterere y'uturemangingo, bwakozwe hakoreshejwe urubuga rwa ModiHSC®, byahinduye inzira ye.

Ku ya 8 Ukuboza 2022, umurwayi yahawe uturemangingo tw’amaraso twahinduwe na gene twakoreshejwe mu gukosora neza ihinduka ry’uturemangingo ryamuteye iyo ndwara. Mu mezi make yakurikiyeho, ibimenyetso by’amaraso ye, birimo uturemangingo dutukura, uturemangingo tw’amaraso twera, na plaquettes, byasubiye ku rugero rusanzwe. Ku ya 17 Gashyantare 2023, umurwayi yari amaze kureka guterwa amaraso, agaragaza gukira burundu n’igice gishya mu buzima bwe.

Ubu buvuzi bukora binyuze mu guhindura BCL11A enhancer mu turemangingo tw’amaraso y’umurwayi bwite, ibyo bigatuma hemoglobine y’umwana wo mu nda ikorwa ku rugero rwo hejuru. HbF yongerewe ifasha mu kurwanya ingaruka mbi za hemoglobine y’umura (HbS) ku barwayi ba SCD kandi ikagabanya ibimenyetso kuri SCD na thalassemia, harimo no gukumira ibibazo byo kuva amaraso mu mitsi no kugabanya amaraso mu maraso.

Nk’umurwayi wa mbere mukuru muri ubu bushakashatsi bw’ubuvuzi, urubanza rwe rutanga icyizere ku bandi barwayi bakuru bafite indwara ikomeye ya thalassemia, benshi muri bo bakaba baratakaje amahirwe yo gukira binyuze mu gutera uturemangingo tw’umubiri bitewe no kutagira umuterankunga ujyanye na byo. Intsinzi y’ubu buvuzi igaragaza ko uburyo bwo kuvura uturemangingo (gene therapy) bushobora guhindura uburyo bwo kuvura indwara z’amaraso no kuzana ibisubizo birambye ku barwayi ku isi yose.

Uru rubanza rw’ibanze rugaragaza impinduka mu buryo dufata kandi tugafata ibi bibazo, rutanga amahirwe yo kubaho ubuzima burenze ubuzima—ubwuzuyemo amahirwe n’isezerano ry’ejo hazaza heza.