Enhancing access to treatment for Gaucher disease in India: The need for indigenous manufacturing [0.03%]
增强印度Gaucher疾病治疗的可及性：本土生产的必要性
Nidhi Patel,Heta Pandya,Ganesh Sangle et al.
Nidhi Patel et al.
Gaucher disease (GD) is a prevalent lysosomal storage disorder (LSD) that significantly impacts individuals' lives. However, the exorbitant prices of GD medications pose a major hurdle in ensuring widespread availability and affordability o...
Ruchita Selot,Arkasubhra Ghosh
Ruchita Selot
Inherited genetic disorders are progressive in nature and lead to organ dysfunction or death in severe cases. At present, there are no permanent treatment options for >95% of inherited disorders. Different modes of inheritance, type of gene...
Review
Journal of biosciences. 2024:49:37. DOI: 2024
Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context [0.03%]
脊髓肌萎缩症：印度背景下发病的分子机制，诊断，治疗和临床试验
Ashutosh Aasdev,Sreelekshmi R S,V Rajesh Iyer et al.
Ashutosh Aasdev et al.
Spinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 (SMN1) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is ...
Review
Journal of biosciences. 2024:49:36. DOI: 2024
Are all VapC toxins of Mycobacterium tuberculosis endowed with enigmatic RNase activity? [0.03%]
所有嗜肺分枝杆菌的VapC毒素都具有神秘的核糖核酸酶活性吗？
Sheeba Zarin,Anwar Alam,Seyed Ehtesham Hasnain et al.
Sheeba Zarin et al.
Mycobacterium tuberculosis (M. tb) employs an extensive network of more than 90 toxin-antitoxin systems, and among them, VapC toxins are the most abundant. While most VapCs function as classical RNases with toxic effects, a significant numb...
Rare genetic diseases in India: Steps toward a nationwide mission program [0.03%]
印度的罕见遗传疾病：迈向全国使命计划的步骤
Anjana Kar,Sundaravadivel P,Ashwin Dalal
Anjana Kar
Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but collectively they are a significant cause of morbidity and mortality. Till date, collectively there are more than 9,000 rare diseases documented, which impose ...
V Rajesh Iyer,Praveen P,Bhagyashree D Kaduskar et al.
V Rajesh Iyer et al.
The medical emergency of COVID-19 brought to the forefront mRNA vaccine technology where the mRNA vaccine candidates mRNA-1273 and BNT162b2 displayed superlative and more than 90% efficacy in protecting against SARS-CoV2 infections. Rare ge...
Review
Journal of biosciences. 2024:49:33. DOI: 2024
Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes [0.03%]
无需密码的线粒体解码：线粒体DNA耗竭综合征的机制见解
Ritoprova Sen,Cuckoo Teresa Jetto,Ravi Manjithaya
Ritoprova Sen
Mitochondrial DNA depletion syndromes (MDS) encompass a wide spectrum of rare genetic disorders caused by severe reduction in mitochondrial DNA (mtDNA), and exhibit heterogenous phenotypes classified as myopathic, encephalomyopathic, hepato...
Review
Journal of biosciences. 2024:49:32. DOI: 2024
Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India [0.03%]
从罕见疾病登记和分析平台框架中汲取的经验对建立印度全国性罕见疾病登记系统的作用
Pragya Chaube,Avani Lankapalli,Mohua Chakraborty Choudhury
Pragya Chaube
Rare diseases (RD) pose significant challenges for healthcare systems globally, necessitating the establishment of disease registries to facilitate research, diagnosis, and treatment. This article explores the development of a comprehensive...
Narendra Chirmule,Huije Feng,Esha Cyril et al.
Narendra Chirmule et al.
Rare diseases, also known as orphan diseases, are diseases with low occurrence in the population. Developing orphan drugs is challenging because of inadequate financial and scientific resources and insufficient subjects to run clinical tria...
Understanding pathophysiology of GNE myopathy and current progress towards drug development [0.03%]
GNE肌病的病理生理学研究进展及药物开发前景
Fluencephila Mashangva,Shagun Singh,Jyoti Oswalia et al.
Fluencephila Mashangva et al.
GNE myopathy is a rare genetic neuromuscular disease that is caused due to mutations in the GNE gene responsible for sialic acid biosynthesis. Foot drop is the most common initial symptom observed in GNE myopathy patients. There is slow pro...
Review
Journal of biosciences. 2024:49:29. DOI: 2024