I-Thalassemia Chen Yan

Kwimpumelelo enkulu kuluntu lwezonyango nakwizigulane ezilwa nesifo se-sickle cell (SCD) kunye ne-thalassemia, unyango oluphambili lwe-gene olusebenzisa ubuchwepheshe be-CRISPR/Cas9 lubonise izinga lokunyanga elimangalisayo le-100% kwizilingo zeklinikhi. Olu nyango lutsha lunika ithemba elitsha kwizigidi zezigulane ezinengxaki yegazi ebuthathaka, ezazifuna utofelo-gazi ubomi bonke kunye neendlela zonyango ezimbalwa.

Umzekelo ophawulekayo wale mpumelelo yimeko yomfundi waseyunivesithi oneminyaka engama-21 ubudala waseGuilin, eTshayina, owafunyaniswa ene-beta-thalassemia enzima eneenyanga ezisibhozo kuphela ubudala. Kangangeminyaka engaphezu kwamashumi amabini, ubomi bakhe babuxhomekeke ekutofelweni igazi rhoqo ukuze kulawulwe imeko yakhe. Nangona kunjalo, ukwaziswa konyango lwe-gene oluphambili, olwaphuhliswa kusetyenziswa iqonga le-ModiHSC®, kwatshintsha indlela yakhe.

Ngomhla wesi-8 kweyoMnga ngo-2022, isigulana safumana iiseli ze-hematopoietic stem cells ezilungiswe yi-gene ezajolisa ngokuchanekileyo zaza zalungisa utshintsho lwe-genetic olubangele imeko yaso. Kwiinyanga ezimbalwa ezalandelayo, iimpawu zegazi lakhe, kuquka iiseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets, zabuyela kumanqanaba aqhelekileyo. Ngomhla we-17 kweyoMdumba ngo-2023, isigulana sasisele singasakwazi utofelo-gazi ngokusemthethweni, nto leyo eyayibonisa ukuphiliswa ngokupheleleyo kunye nesahluko esitsha ebomini baso.

Olu nyango lusebenza ngokuhlela i-BCL11A enhancer kwiiseli ze-hematopoietic zesigulane kunye neeseli zomguli, nto leyo evumela ukuveliswa kwamanqanaba aphezulu e-hemoglobin ye-fetal (HbF). I-HbF ephakanyisiweyo inceda ukulwa nemiphumo emibi ye-sickle hemoglobin (HbS) kwizigulane ze-SCD kwaye inciphisa iimpawu kwi-SCD nakwi-thalassemia, kubandakanya ukuthintela iingxaki ze-vaso-occlusive kunye nokunciphisa i-hemolytic anemia.

Njengomntu wokuqala omdala kwesi sivivinyo seklinikhi, ityala lakhe linika ithemba kwabanye abantu abadala abane-thalassemia enzima, uninzi lwabo olwalulahlekelwe lithuba lokunyanga ngokufakelwa iiseli ze-stem ngenxa yokungafumaneki komntu oza kuxhasa. Impumelelo yolu nyango ibonakalisa amandla onyango lwe-gene ukuguqula ulawulo lweengxaki zegazi ze-genetic kunye nokuzisa izisombululo zonyango zexesha elide kwizigulana kwihlabathi liphela.

Eli tyala liphambili limele utshintsho olucacileyo kwindlela esijongana ngayo nesiphatha ngayo ezi meko, lisinika ithuba lobomi obungaphaya kokusinda—obuzele ngamathuba kunye nesithembiso sekamva elingcono.