Publications by authors named "A E Chudley"
Article Synopsis
- X-linked intellectual disability (XLID) is a genetic condition affecting primarily males, leading to cognitive and physical impairments and associated with genetic defects on the X chromosome.
- Researchers identified specific genetic variants in the SRPK3 gene linked to XLID in nine patients and developed a zebrafish model to study SRPK3's function.
- The study found that mutations in SRPK3 are tied to common symptoms seen in XLID, including intellectual disability and abnormal eye movement, emphasizing its critical role in neurodevelopmental disorders.
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2-5% of North Americans. FASD is induced by prenatal alcohol exposure (PAE) during pregnancy and while there is a clear genetic contribution, few genetic factors are currently identified or understood. In this study, using a candidate gene approach, we performed a genetic variant analysis of retinoic acid (RA) metabolic and developmental signaling pathway genes on whole exome sequencing data of 23 FASD-diagnosed individuals.
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- Activating mutations in the PIK3CA gene lead to a variety of disorders known as PIK3CA-related overgrowth spectrum (PROS), which includes syndromes like CLOVES and MCAP.
- The study focused on detecting mosaic variants in PIK3CA, which are challenging to identify but critical for diagnosing PROS.
- By using deep sequencing technologies, specifically the Illumina TruSight Oncology 500 panel, researchers successfully identified pathogenic mosaic variants in all patients tested, emphasizing the need for enhanced genetic screening in this area.
Article Synopsis
- Intellectual disability (ID) is a common disorder that affects cognitive and adaptive functioning, with X-linked intellectual disability (XLID) impacting 1.7 out of 1,000 males due to mutations on the X chromosome.
- Researchers identified three specific mutations in a gene related to XLID in seven patients from different families, all of whom exhibited common symptoms such as intellectual disability and abnormal eye movements.
- A zebrafish model was created to study the gene's function, revealing that knockout (KO) zebrafish had significant developmental issues, supporting the gene's role in learning and psychiatric disorders.
The information on the nutrition status of women at-risk of carrying a child with fetal alcohol spectrum disorder (FASD) is scarce, particularly in the First Nations population living on reserve. This study examined and compared nutrition status, dietary intake, and lifestyle patterns of pregnant at-risk, defined as those who consume alcoholic drink during the current pregnancy, and non-at-risk women living in northern Manitoban community. Thirty-seven pregnant, First Nations women (at-risk = 15; non-at-risk, = 22) were recruited to participate in the study.
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