Publications by authors named "A Hingorani"

Article Synopsis
  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
  • Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
  • The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
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Article Synopsis
  • - Epilepsy is a widespread neurological disorder, with many patients suffering from drug-resistant forms where seizures persist despite medication, prompting a review of recent surgical methods for better management of the condition.
  • - The review highlighted various surgical interventions like anterior temporal lobectomy and minimally invasive techniques, which show promise in reducing seizures, as well as neuromodulation strategies for patients not eligible for traditional surgery.
  • - Despite advancements, epilepsy surgery remains underused due to challenges like inconsistent referral practices and socioeconomic barriers, emphasizing the need for better education and equitable access to improve patient outcomes.
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Background: Despite the growing interest in the use of human genomic data for drug target identification and validation, the extent to which the spectrum of human disease has been addressed by genome-wide association studies (GWAS), or by drug development, and the degree to which these efforts overlap remain unclear.

Methods: In this study we harmonize and integrate different data sources to create a sample space of all the human drug targets and diseases and identify points of convergence or divergence of GWAS and drug development efforts.

Results: We show that only 612 of 11,158 diseases listed in Human Disease Ontology have an approved drug treatment in at least one region of the world.

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Article Synopsis
  • * We found 17 genetic loci associated with sleep duration impacting lipid levels, with 10 of them being newly identified and linked to sleep-related disturbances in lipid metabolism.
  • * The research points to potential drug targets that could lead to new treatments for lipid-related issues in individuals with sleep problems, highlighting the connection between sleep patterns and cardiovascular health.
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Background: The minimally invasive procedures of venous ablation and iliac vein stenting are evolving treatment options for venous insufficiency. Yet, there are no studies directly comparing the outcome of these procedures. We performed a survey on patients who had both procedures, to determine if either procedure helped more and if there is any other clinical factor related to the outcome.

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