The emergence of CRISPR-Cas9 technology, however, has ushered in a new era of hope in genetic therapies. CRISPR-based treatments hold the potential to precisely edit and correct disease-causing mutations, offering tailored solutions for rare genetic diseases in India. This review explores the ...
Overall, 3294 patients with 305 rare diseases were identified in the present study cohort. These were categorized into 14 disease groups based on the major organ/ organ system affected. Highest number of rare diseases (D = 149/305, 48.9%) were identified in the neuromuscular and neurodevelo...
(Lysosomal Storage Disorder Support Society India), with the goal of raising awareness and shared resources. Under his leadership, this society started observing International Rare Disease day for the first time in India on a national scale in 2010. He also started the Pompe Foundation in India,...
Rare disease (RD) management and orphan drug development in India face various hurdles regarding the implementation and adoption of comprehensive policies, lack of dedicated regulatory frameworks, and absence of epidemiological data. Current rare disease policy focuses more on strengthening the diagnostics ...
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Paget' disease fromWestern India Paget's disease in western India is rare with classical clinical, radiological and biochemical features and responds well to low dose alendronate therapy. ... SR Joshi,S Ambhore,N Butala,... - 《Journal of the Association of Physicians of India》 被引量: 94...
one must know the prevalence or count of rare disease patients in India. To accomplish this, IORD initiated a pilot project to make an approximate count of rare disease patients with the generous support of the government of Telangana, permittingAccredited Social Health ...
BREXIT provides opportunities and also poses challenges to India. India–UK relations are both wide ranging and robust, encompassing a broad vision for the future supported by a concrete and comprehensive road map for bilateral and globa... PS Chauhan 被引量: 0发表: 2021年 Brexit and trade pol...
To fully understand how decisions are made, you must understand the person behind the patient, caregiver, or healthcare provider. This is particularly true for rare disease research, where sufferers can be young, medical knowledge is often sparse, and the treatment journey is typically quite compl...
Arabia/India βs haplotype and α-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi ... AD Adekile,MZ Haider - 《Acta Haematologica》 被引量: 110发表: 1996年 α-Thalassemia in the United Arab Emirates. A neonatal screening...