게시일: 2026 년 5 월 3 일 (일요일)
The Breakthrough Prize Foundation announced the 2026 Breakthrough Prize winners on April 18, with the Life Sciences awards—presented alongside prizes in fundamental physics and mathematics—recognizing advances spanning gene therapy, gene editing, and neurodegenerative disease genetics.
The Breakthrough Prize, often described as the “Oscars of Science”, awards USD 3 million to each life sciences laureate. The three separate awards highlight milestones that have reshaped treatment paradigms for inherited blindness, hemoglobinopathies, and amyotrophic lateral sclerosis (ALS).
Gene therapy for inherited blindness
Jean Bennett, Katherine A. High, and Albert Maguire were honored for developing the first US FDA-approved gene replacement therapy, targeting Leber congenital amaurosis caused by mutations in the RPE65 gene.
Their work led to voretigene neparvovec, which restores visual function by delivering a functional copy of the defective gene. The therapy has demonstrated durable benefit, with patients maintaining improved vision more than a decade after treatment.
Beyond its clinical impact, the program helped establish regulatory and manufacturing pathways that have since supported a wave of gene therapy development, including more than 100 retinal gene therapy trials.
Jean Bennett and Albert Maguire conducted their foundational work at the University of Pennsylvania and its affiliated Children’s Hospital of Philadelphia (CHOP), where early preclinical and clinical studies were carried out.
Katherine A. High was also based at CHOP during the critical translational phase, later moving to Spark Therapeutics, the biotech spun out of Penn to commercialize the therapy. Spark led development of voretigene neparvovec, which was subsequently acquired by Roche in 2019.
CRISPR-based therapy for blood disorders
A second prize recognized Stuart H. Orkin and Swee Lay Thein for discoveries underpinning gene editing therapies for sickle cell disease and beta-thalassemia.
Their work identified BCL11A as a key regulator of fetal hemoglobin. By targeting a red blood cell–specific enhancer controlling this gene, researchers enabled reactivation of fetal hemoglobin production—a strategy that mitigates disease severity.
These findings translated into exagamglogene autotemcel, the first CRISPR-based therapy approved for clinical use. The one-time treatment edits patients’ own hematopoietic stem cells and has demonstrated potentially curative outcomes.
Stuart Orkin is based at Boston Children’s Hospital and Harvard Medical School, where his lab identified the role of BCL11A in hemoglobin switching. Swee Lay Thein carried out key genetic mapping work at King’s College London and associated NHS institutions. Their discoveries were translated into a commercial therapy through collaboration between Vertex Pharmaceuticals and CRISPR Therapeutics, which co-developed exagamglogene autotemcel.
Genetic breakthrough in ALS and FTD
Rosa Rademakers and Bryan Traynor were recognized for identifying the most common genetic cause of both ALS and frontotemporal dementia (FTD).
In 2011, the researchers independently discovered a repeat expansion mutation in the C9orf72 gene. The mutation accounts for roughly one-third of familial ALS and FTD cases in European populations and a smaller but significant proportion of sporadic cases.
The finding unified ALS and FTD within a shared disease spectrum and enabled genetic testing, while also providing a foundation for therapeutic development. Multiple treatments targeting C9orf72-related mechanisms are now in clinical trials.
Rosa Rademakers conducted her work at the Mayo Clinic, where she led large-scale genetic studies of neurodegenerative disease. Bryan Traynor carried out parallel research at the National Institutes of Health, particularly within the National Institute on Aging. The discovery of the C9orf72 mutation has since been taken forward by a range of biotech companies developing antisense oligonucleotides and other targeted therapies, although no single commercial program is yet dominant.
📌 한국어 요약
2026 년 브레이크스루 상은 유전자 치료, 유전자 편집, 신경퇴행성 질환 유전학 분야에서 혁신적인 업적을 이룬 과학자들을 선정했습니다. 상금은 각 분야 300 만 달러로, ‘과학의 오스카’라고 불립니다. 선천성 실명을 치료하는 유전자 대체 요법, 겸상 적혈구 빈혈증과 지중해빈혈을 치료하는 CRISPR 기반 요법, 그리고 ALS 와 전두측두엽 치매의 유전적 원인을 규명한 연구가 각각 수상했습니다. 이러한 연구들은 환자들에게 실질적인 치료 효과를 제공하고 있으며, 관련 임상 시험이 활발히 진행 중입니다.
📚 핵심 단어
- Gene therapy: 유전자 치료 – 결함 있는 유전자를 정상적인 유전자로 대체하여 질병을 치료하는 방법
- CRISPR: 크리스퍼 – 유전자의 특정 부위를 정밀하게 편집할 수 있는 기술
- Inherited blindness: 선천성 실명 – 부모로부터 물려받아 태어날 때부터 시각 장애를 가진 상태
- Sickle cell disease: 겸상 적혈구 빈혈증 – 적혈구가 낫 모양으로 변형되어 발생하는 유전성 혈액 질환
- Hematopoietic stem cells조혈 줄기세포: 혈액 세포를 만들어내는 기본 세포
- ALS (Amyotrophic lateral sclerosis): 근위축성 측삭 경화증 – 운동 신경세포가 손상되는 진행성 신경 질환
- Frontotemporal dementia (FTD): 전두측두엽 치매 – 뇌의 전두엽과 측두엽이 위축되어 발생하는 치매
- Regulatory pathways: 규제 경로 – 의약품 승인을 위한 공식적인 절차와 기준