The FDA has approved Roche's SMA (Spinal Muscular Atrophy) treatment Evrysdi for use in infants under 2 months of age. This makes it possible for infants diagnosed with SMA to receive this treatment through the newborn screening test. Roche's Evrysdi is the third approved treatment after Novartis' Zolgensma and Biogen's Spinraza. The expanded approval looks set to be a factor in Roche’s competitive edge.
FDA가 Roche의 SMA(Spinal Muscular Atrophy) 치료제 Evrysdi를 생후 2개월 미만 영유아 까지 적용할 수 있도록 승인 했습니다. 이로써 newsborn screening test를 통해 SMA 진단된 영유아들이 이 치료제를 처방받을 수 있게 되었습니다. Roche의 Evrysdi는 Novartis의 Zolgensma, Biogen의 Spinraza에 이어 승인된 세 번째 치료제인데, 이번 확장 승인이 Roche의 경쟁에 유리한 요인으로 작용할 것으로 보입니다. Original Article: BioPharma Dive.Roche SMA drug approved in youngest infants, challenging Novartis and Biogen
The phase 1 gene therapy clinical trial results for Leber Optic Neuropathy, a rare ophthalmic disorder caused by pathogenic variants in mitochondria, have been announced. There were no safety concerns, but the effect of alleviating vision loss was not confirmed. As a result, the next phase of clinical trials will not proceed, and researchers will try a different approach to develop therapeutics.
In the Critical Assessment of Genome Interpretation (CAGI), an artificial intelligence genome interpretation contest in which 50 teams around the world participated, 3billion was selected as the top-performing team. 3billion's model performed best in the problem of predicting causal genetic variation with an artificial intelligence model (SickKids) based on patient WGS data collected by The Hospital for Sick Children.
전 세계 50여 개 팀이 참가한 인공지능 유전체 분석 경진대회인 CAGI(Critical Assessment of Genome Interpretation)에서 쓰리빌리언이 Top performing team으로 선정 되었습니다. The Hospital for Sick Children이 수집한 환자 WGS 데이터를 바탕으로 인공지능 모델로 원인 유전 변이를 예측하는 문제(SickKids)에서 쓰리빌리언의 모델이 최고 성능을 보였습니다. Original Article: Medigate News.쓰리빌리언, 글로벌 인공지능 유전체 분석 경진대회 CAGI 우승
Researchers in the UAE have argued that rapid Whole Genome Sequencing (rWGS) should be invested in making it widely available in local healthcare institutions. Based on a small-scale rWGS diagnosis case study conducted on infants who came from UAE, Kenya, Jordan, Philippines, and Pakistan, the effect of early diagnosis and cost reduction was confirmed. Based on this, researchers urged infrastructure investment to expand rWGS.
Rare disease pharmaceutical industry trendsIonis Pharmaceutical and AstraZeneca announced that they had succeeded in Phase 3 clinical trial of co-developing transthyretin amyloidosis treatment(eplontersen). However, the…