I-Thalassemia Chen Yan

Empumelelweni enkulu emphakathini wezokwelapha kanye neziguli ezilwa nesifo se-sickle cell (SCD) kanye ne-thalassemia, ukwelashwa kwezakhi zofuzo okuthuthukisiwe okusebenzisa ubuchwepheshe be-CRISPR/Cas9 kubonise izinga lokuphulukisa elimangalisayo elingu-100% ezivivinyweni zemitholampilo. Lokhu kwelashwa okusha kunikeza ithemba elisha ezigidini zeziguli ezihlushwa yilezi zifo zegazi eziwohlozayo, ezazidinga ukumpontshelwa igazi impilo yonke kanye nezinketho zokwelapha ezilinganiselwe.

Isibonelo esiphawulekayo salokhu kuthuthuka yindaba yomfundi waseyunivesithi oneminyaka engu-21 ubudala waseGuilin, eShayina, owayetholakale ene-beta-thalassemia enzima enezinyanga eziyisishiyagalombili kuphela ubudala. Sekuyiminyaka engaphezu kwamashumi amabili, impilo yakhe yayixhomeke ekumpompelweni igazi njalo ukuze alawule isimo sakhe. Kodwa-ke, ukwethulwa kokwelashwa kwezakhi zofuzo okuthuthukisiwe, okwathuthukiswa kusetshenziswa ipulatifomu ye-ModiHSC® eyimfihlo, kwashintsha indlela yakhe.

Ngomhlaka-8 Disemba 2022, isiguli sathola amaseli e-hematopoietic stem ahlelwe izakhi zofuzo aqondisa futhi alungisa ngqo ukuguquka kwezakhi zofuzo okwabangela isimo saso. Ezinyangeni ezimbalwa ezalandela, izimpawu zegazi lakhe, okuhlanganisa amaseli abomvu egazi, amaseli amhlophe egazi, nama-platelet, zabuyela emazingeni ajwayelekile. Ngomhlaka-17 Febhuwari 2023, isiguli sase singenawo ngokusemthethweni amandla okumpontshelwa igazi, okuphawula ukwelashwa okuphelele kanye nesahluko esisha empilweni yaso.

Lokhu kwelashwa kusebenza ngokuhlela isithuthukisi se-BCL11A kumaseli e-hematopoietic stem kanye ne-progenitor yesiguli, okuvumela ukukhiqizwa kwamazinga aphezulu e-hemoglobin yengane (i-HbF). I-HbF ephakanyisiwe isiza ekulweni nemiphumela elimazayo ye-sickle hemoglobin (i-HbS) ezigulini ze-SCD futhi inciphisa izimpawu kokubili ku-SCD kanye ne-thalassemia, okuhlanganisa ukuvimbela izinkinga ze-vaso-occlusive kanye nokunciphisa i-hemolytic anemia.

Njengesiguli sokuqala esikhulile kulolu vivinyo lwezokwelapha, icala lakhe linikeza ithemba kwabanye abantu abadala abane-thalassemia enzima, abaningi babo ababelahlekelwe ithuba lokwelashwa ngokufakelwa amaseli e-stem ngenxa yokungatholakali komnikeli ofanayo. Impumelelo yalokhu kwelashwa igcizelela amandla okwelashwa kwezakhi zofuzo okuguqula ukuphathwa kwezifo zegazi zofuzo nokuletha izixazululo zesikhathi eside, zokwelapha ezigulini emhlabeni jikelele.

Leli cala eliphambili limelela ushintsho oluyisisekelo endleleni esibhekana ngayo futhi siphathe ngayo lezi zimo, linikeza ithuba lokuphila ngale kokusinda—okugcwele amathuba kanye nesithembiso sekusasa elingcono.