Publications by authors named "B Holly Broadbent"
encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.
View Article and Find Full Text PDFA roadmap to cure CHD2-related disorders.
Ther Adv Rare Dis
October 2024
Article Synopsis
- The Coalition to Cure CHD2 (CCC) is a patient advocacy group focused on enhancing the lives of individuals affected by CHD2-related disorders through education, community building, and research.
- CHD2 is a gene linked to neurological conditions like epilepsy and developmental delays, with no current treatments available, and new findings suggest related genes could be potential therapeutic targets.
- CCC has laid out a comprehensive plan to find a cure, involving patient identification, model development, therapy testing, and ongoing community engagement, despite facing challenges in the research process.
Article Synopsis
- Long non-coding RNAs (lncRNAs) make up a significant part of the human genome, but findings show that a specific lncRNA, located near a coding gene, is linked to severe developmental disorders and epilepsy through harmful mutations.
- Researchers found three individuals with a rare deletion affecting this lncRNA, displaying similar symptoms such as developmental delays and distinct facial features, differing from typical haploinsufficiency effects.
- The study revealed that this deletion leads to altered mRNA and protein levels in patients, demonstrating that structural variants can cause neurodevelopmental disorders and emphasizing the importance of further evaluating lncRNAs in relation to genetic diseases.
Novel approaches toward understanding the evolution of disease can lead to the discovery of biomarkers that will enable better management of disease progression and improve prognostic evaluation. Raman spectroscopy is a promising investigative and diagnostic tool that can assist in uncovering the molecular basis of disease and provide objective, quantifiable molecular information for diagnosis and treatment evaluation. This technique probes molecular vibrations/rotations associated with chemical bonds in a sample to obtain information on molecular structure, composition, and intermolecular interactions.
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