Publications by authors named "N T Tayade"
Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.
Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.
Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.
Linseed or flaxseed, native to the Indian subcontinent, had undergone domestication, edaphic selection and evolutionary processes that may have resulted in huge genetic variability in Indian genotypes. To understand the hitherto unexplored genetic diversity for sustainable flaxseed production amid challenges of climate fluctuation and identify trait-specific high-yielding genotypes, 2576 unique linseed accessions were comprehensively evaluated for 36 traits for up to six environments representing two major agroecological zones in India. A wide range of variability was recorded for days to initiation of flowering (42.
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- Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
- This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
- The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
Article Synopsis
- Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
- Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
- The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.