Publications by authors named "R Sachdev"
Navigating an Uninformative Genomic Test Result: A Practical Guide.
J Paediatr Child Health
March 2025
Background: Although genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result.
Aim: To provide a practical guide for paediatricians on how to approach an uninformative genomic test result, and the pathways which may be available to uncover a genetic diagnosis for their patients.
Methods: Input from multiple genetics healthcare professionals including genetic counsellors, the literature, and a general paediatrician were used to construct this guide.
Article Synopsis
- ARID1A and ARID1B duplications are linked to Coffin-Siris syndrome, but ARID1B duplications have not been previously associated with a specific clinical phenotype until now.
- A study analyzed 16 cases of ARID1A and 13 cases of ARID1B duplications, revealing that ARID1A duplications resulted in more severe symptoms, including intellectual disabilities and growth delays, while both groups displayed similar features.
- The research identified unique DNA methylation patterns in ARID1A duplication patients, which differ from those with loss-of-function variants, suggesting the presence of a distinct clinical phenotype for both ARID1A and ARID1B duplications, indicating a new type of
Article Synopsis
- - Accurate assessment of post-stroke deficits is essential for research, and advances in machine learning help quantify rodent motor behavior, but identifying specific upper extremity deficits remains unclear.
- - The study utilized techniques like proximal middle cerebral artery occlusion (MCAO) and cortical photothrombosis (PT) in mice, using tests and advanced imaging to analyze how stroke affects motor skills, particularly focusing on the forepaw's movement.
- - Findings showed that while general stroke volume didn't predict motor issues, specific patterns like forepaw slips and reaching success related directly to the size of cortical lesions, highlighting the importance of in-depth behavioral assessments in understanding stroke effects in preclinical research.
Article Synopsis
- * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
- * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
The G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is a major risk factor for the development of Parkinson's disease (PD). LRRK2, although ubiquitously expressed, is highly abundant in cells of the innate immune system. Given the importance of central and peripheral immune cells in the development of PD, we sought to investigate the consequences of the G2019S mutation on microglial and monocyte transcriptome and function.
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