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Roadmap to advance therapeutics for -related disorder: a patient organization perspective from SynGAP Research Fund.
Ther Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFVirseqimprover: an integrated pipeline for viral contig error correction, extension, and annotation.
PeerJ
January 2025
Department of Computer Science, Virginia Polytechnic Institute and State University (Virginia Tech), Blacksburg, VA, United States of America.
Despite the recent surge of viral metagenomic studies, it remains a significant challenge to recover complete virus genomes from metagenomic data. The majority of viral contigs generated from de novo assembly programs are highly fragmented, presenting significant challenges to downstream analysis and inference. To address this issue, we have developed Virseqimprover, a computational pipeline that can extend assembled contigs to complete or nearly complete genomes while maintaining extension quality.
View Article and Find Full Text PDFObjectives: Chronic pain treatment engagement is dominated by pharmaceutical methods, while previous research has assessed barriers to uptake of non-pharmaceutical treatments, there has not been research one step earlier in the treatment development pipeline; assessing barriers to take part in research that develops non-pharmaceutical chronic pain treatment methods.
Design: A two-phase approach was used to assess barriers and facilitators to research participation for people living with chronic pain. Online focus groups were run in phase 1, generating qualitative data, while phase 2 used the themes identified within phase 1 to assess agreement and disagreement.
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Clin Genet
January 2025
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.
View Article and Find Full Text PDFPipeline for development of acylated peptide based CGRP receptor antagonist with extended half-life for migraine treatment.
Sci Rep
January 2025
Gubra ApS, Hørsholm Kongevej 11B, DK-2970, Hørsholm, Denmark.
Migraine is a debilitating headache disorder. The disease has neurovascular origin and migraine attacks can be elicited by vasodilative neuropeptides such as alpha calcitonin gene-related peptide (αCGRP). Antagonizing CGRP actions in migraine patients has proven clinically efficient.
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