表彰她對端粒的研究,發現其如何保护染色體两端及其造成基因组不稳定並引致癌症。("For research on telomeres, illuminating how they protect chromosome ends and their role in genome instability in cancer."[10])
表彰他发现血管新生中的一个机制(即血管內皮生長因子[11])。此发现被用作治疗癌症和眼部疾病。("For discoveries in the mechanisms of angiogenesis that led to therapies for cancer and eye diseases."[12])
表彰他发现了识辨人类致病基因的原理,以及建构和分析人类基因组的基因、實體和序列图谱,使其能被应用在医疗领域上。("For the discovery of general principles for identifying human disease genes, and enabling their application to medicine through the creation and analysis of genetic, physical and sequence maps of the human genome."[13])
表彰他發現大脑内導致帕金森症的不正常机制,為治療該疾病的脑深层刺激手术奠定基础。("For defining the interlocking circuits in the brain that malfunction in Parkinson's disease – this scientific foundation underlies the circuit-based treatment of Parkinson's disease by deep brain stimulation."[24])
表彰他发现细胞内蛋白质降解的功能与关键因素(即泛素化的N端法則[29])。("For discovering critical molecular determinants and biological functions of intracellular protein degradation."[30])
表彰他发现組織蛋白上的共价轉譯後修飾,及其在调控基因表现和染色质結構的关键角色,從而促進先天性疾病与癌症等的各种疾病的研究进展。("For the discovery of covalent modifications of histone proteins and their critical roles in the regulation of gene expression and chromatin organization, advancing the understanding of diseases ranging from birth defects to cancer."[31])
表彰他創建高频率腦深層刺激手術,一種帕金森症的革命性新療法。"(For the discovery and pioneering work on the development of high-frequency deep brain stimulation (DBS), which has revolutionized the treatment of Parkinson’s disease."[32])
表彰他們发现透过防止轉譯互补信使核糖核酸(mRNA)或使互补mRNA不稳定的基因表現基因表达调控机制,亦即小分子核糖核酸(miRNA)基因调控(英语:Regulation of gene expression)。("For the discovery of a new world of genetic regulation by microRNAs, a class of tiny RNA molecules that inhibit translation or destabilize complementary mRNA targets."[33][34])
表彰她們将一种细菌免疫的机制(CRISPR-Cas系统[35])改造成强大的基因组编辑技术。("For harnessing an ancient mechanism of bacterial immunity into a powerful and general technology for editing genomes, with wide-ranging implications across biology and medicine."[36][37])
表彰他們實現和發展光遺傳學研究領域。光遺傳學利用光線操縱離子通道和離子運輸蛋白,以控制神經元運作。("For the development and implementation of optogenetics – the programming of neurons to express light-activated ion channels and pumps, so that their electrical activity can be controlled by light."[38][39])
表彰她發現改變膽固醇和其他脂類水平與分佈的基因變異(如PCSK9(英语:PCSK9)的突變[40][41]),為治療和預防肝臟和心血管疾病提供新方法。("For the discovery of human genetic variants that alter the levels and distribution of cholesterol and other lipids, inspiring new approaches to the prevention of cardiovascular and liver disease."[42])
表彰他對古DNA(英语:Ancient DNA)與古基因組進行測序,解釋了人類起源、人類跟已滅絕的近親(如尼安德塔人等)的關係、及人類特徵的演化。("For pioneering the sequencing of ancient DNA and ancient genomes, thereby illuminating the origins of modern humans, our relationships to extinct relatives such as Neanderthals, and the evolution of human populations and traits."[43])
表彰他發現導致阿茲海默症的前類澱粉蛋白質(APP)基因,以及類澱粉蛋白積聚與跟阿茲海默症的關係,為該疾病提供嶄新療法。("For discovering mutations in the amyloid precursor protein (APP) gene that cause early onset Alzheimer’s disease, linking accumulation of APP-derived beta-amyloid peptide to Alzheimer’s pathogenesis and inspiring new strategies for disease prevention."[44])
表彰他發現真核細胞如何感應DNA受損(英语:DNA damage (naturally occurring))並作出反應,為癌症治療和癌變研究帶來新方向。("For elucidating how eukaryotic cells sense and respond to damage in their DNA and providing insights into the development and treatment of cancer."[45])
表彰他發現核糖體的重要部份由核糖核酸(RNA)組成(代表核糖體是一種核酶[46]),從而顯示抗生素如何妨礙細菌合成蛋白質,並以蛋白質合成跟生命起源的關係來佐證RNA世界學說[47]。("For discovering the centrality of RNA in forming the active centers of the ribosome, the fundamental machinery of protein synthesis in all cells, thereby connecting modern biology to the origin of life and also explaining how many natural antibiotics disrupt protein synthesis."[48])
表彰他對Wnt信號通路的研究,加深認識此影響人類成長、癌症和幹細胞生長的重要訊息傳遞系統。("For pioneering research on the Wnt pathway, one of the crucial intercellular signaling systems in development, cancer and stem cell biology."[49])
表彰他發現細胞自噬,一個降解並重用受損或多餘細胞部件的過程。("For elucidating autophagy, the recycling system that cells use to generate nutrients from their own inessential or damaged components."[50])
表彰她發現小腦萎縮症和蕾特氏症的遺傳上的成因與生物化學機制,加深認識神經系統疾病和神經退化性疾病。("For discoveries of the genetic causes and biochemical mechanisms of spinocerebellar ataxia and Rett syndrome, findings that have provided insight into the pathogenesis of neurodegenerative and neurological diseases."[51])
表彰她發現植物如何最有效率地將陽光轉換成化學能量,從而利用植物儲存碳的能力來緩解氣候變遷[52][53]。("For discovering how plants optimize their growth, development, and cellular structure to transform sunlight into chemical energy."[54])
表彰他們發現未折疊蛋白反應,一個細胞質量控制過程,移除因不同原因而無法正常摺疊成二級結構的蛋白質。("For elucidating the unfolded protein response, a cellular quality-control system that detects disease-causing unfolded proteins and directs cells to take corrective measures."[55][56])
表彰他發現黏連蛋白(英语:Cohesin)(Cohesin)[57]協助DNA複製時組成和分離姊妹染色單體。("For elucidating the sophisticated mechanism that mediates the perilous separation of duplicated chromosomes during cell division and thereby prevents genetic diseases such as cancer."[58])
表彰他發現一種遺傳性肌萎縮性脊髓側索硬化症的成因、解釋神經膠質細胞對神經退化的影響、以及以反義寡核苷酸(antisense oligonucleotide)在動物模型中治療肌萎縮性脊髓側索硬化症和亨丁頓舞蹈症。("For elucidating the molecular pathogenesis of a type of inherited ALS, including the role of glia in neurodegeneration, and for establishing antisense oligonucleotide therapy in animal models of ALS and Huntington disease."[59])
表彰他發現負責感應胞質溶膠內DNA的環鳥苷酸-腺苷酸合成酶(英语:Cyclic GMP-AMP synthase)(cGAS),了解DNA在細胞中如何激發先天免疫系統。("For elucidating how DNA triggers immune and autoimmune responses from the interior of a cell through the discovery of the DNA-sensing enzyme cGAS."[60])
表彰她發明隨機光學重建顯微法(英语:Super-resolution microscopy#STORM, PALM, and FPALM)(Stochastic optical reconstruction microscopy或STORM),超高解析度顯微鏡之一。("For discovering hidden structures in cells by developing super-resolution imaging – a method that transcends the fundamental spatial resolution limit of light microscopy."[61])
表彰她研究染色體非整倍體的後果。當細胞分裂時,染色體沒正常分開,令其中一個細胞擁有更多染色體,另一則獲分得更少,此情況即非整倍體[62]。("For determining the consequences of aneuploidy, an abnormal chromosome number resulting from chromosome mis-segregation."[63])
表彰他們以反義寡核苷酸(antisense oligonucleotide)治療兒童的脊髓性肌肉萎縮症("For the development of an effective antisense oligonucleotide therapy for children with the neurodegenerative disease spinal muscular atrophy."[64][65])
表彰他發現瘦蛋白及相關的內分泌系統[71]。脂肪組織以此系統,通過腦部間接控制進食量。("For the discovery of a new endocrine system through which adipose tissue signals the brain to regulate food intake."[72])
表彰他發現女性懷孕期間,體內胎兒的DNA存在於母親的血液中,且可被用作產前診斷唐氏綜合症和其他遺傳性疾病。("For discovering that fetal DNA is present in maternal blood and can be used for the prenatal testing of trisomy 21 and other genetic disorders"[75])
表彰她拆解育兒行為背後的神經系統,顯示不論男女,均擁有跟男性和女性特有的育兒行為相關的神經迴路和系統。("For deconstructing the complex behavior of parenting to the level of cell-types and their wiring, and demonstrating that the neural circuits governing both male and female-specific parenting behaviors are present in both sexes."[76])
表彰他利用嶄新方法設計蛋白質(英语:Protein design),包括有潛質治療疾病的新蛋白質。("For developing technology that allowed the design of proteins never seen before in nature, including novel proteins that have the potential for therapeutic intervention in human diseases."[77])
表彰他發現一個清除受損粒線體的機制,從而預防帕金森氏症。("For elucidating a quality control pathway that clears damaged mitochondria and thereby protects against Parkinson’s Disease."[78])
表彰他們建立可靠和可負擔的大規模DNA測序方法,又稱次世代基因測序(英语:Massive parallel sequencing)[79][80]。("For the development of a robust and affordable method to determine DNA sequences on a massive scale, which has transformed the practice of science and medicine."[81][82][83])
表彰他們利用核糖核酸(RNA),快速製造對抗2019冠状病毒病疫苗的疫苗。("For engineering modified RNA technology which enabled rapid development of effective COVID-19 vaccines."[84][85])
表彰他發現轉甲狀腺素蛋白(英语:Transthyretin)能導致多種神經退化性疾病和心臟疾病,以及發明能減緩其中一類心臟疾病的藥物氯苯唑酸(英语:Tafamidis)[86]。("For elucidating the molecular basis of neurodegenerative and cardiac transthyretin diseases, and for developing tafamidis, a drug that slows their progression."[87])
表彰他们发现由蛋白质和RNA相分离成无膜液滴介导的细胞组织的基本机制。("For discovering a fundamental mechanism of cellular organization mediated by phase separation of proteins and RNA into membraneless liquid droplets."[88][89])
表彰他们开发一种深度学习人工智能方法,可以根据氨基酸序列快速准确地预测蛋白质的三维结构。("For developing a deep learning AI method that rapidly and accurately predicts the three-dimensional structure of proteins from their amino acid sequence."[90][91])
表彰他们发现发作性嗜睡病是丧失一小部分能够产生让人醒来的物质的脑细胞造成的,为开发睡眠障碍的新疗法铺平了道路("For discovering that narcolepsy is caused by the loss of a small population of brain cells that make a wake-promoting substance, paving the way for the development of new treatments for sleep disorders."[92][93])
表彰他们开发嵌合抗原受体T细胞免疫疗法,通过修改患者的T细胞来靶向并杀死癌细胞。("For the development of chimeric antigen receptor T cell immunotherapy whereby the patient's T cells are modified to target and kill cancer cells."[94][95])
表彰他们开发改变生命的药物组合,修复囊性纤维化患者有缺陷的氯离子通道蛋白。("For developing life-transforming drug combinations that repair the defective chloride channel protein in patients with cystic fibrosis."[96][97][98])
表彰他们确定GBA1(英语:Glucocerebrosidase)和LRRK2为帕金森病的风险基因,表明自噬和溶酶体生物学是该疾病发病机制的关键因素。("For identifying GBA1 and LRRK2 as risk genes for Parkinson's disease, implicating autophagy and lysosomal biology as critical contributors to the pathogenesis of the disease."[99][100][101])