Publications by authors named "M Gabbett"
The mainstreaming of genomics across healthcare specialties necessitates that all nurses and midwives have a high literacy in genomics. We aimed to design, develop, implement and evaluate a genomics education workshop for nurses and midwives using action research principles. Registered nurses and midwives completed an online survey regarding genomics confidence and learning needs (n = 274).
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- GJB2 gene mutations were initially linked to severe hearing loss but are now also connected to mild and moderate forms of hearing impairment, highlighting the need for understanding these genetic variations.
- In a study of 127 Australian children with hearing loss, about two-thirds carried specific GJB2 or GJB6 gene variants, with the most common variant being c.109 G>A, which was associated with milder hearing loss outcomes.
- The findings suggest that different GJB2 variants lead to varying degrees of hearing loss, thereby enhancing the accuracy of genetic counseling for affected families.
Article Synopsis
- The study focuses on a specific genetic deficiency related to ZNFX1, which is crucial for regulating antiviral immune responses to viral nucleic acids.
- Researchers examined 15 patients from 8 families who showed severe reactions to both RNA and DNA viral infections, including chronic inflammation and organ issues.
- The findings revealed harmful genetic variants in ZNFX1 among patients, leading to unbalanced interferon-stimulated gene expression and difficulties in clearing viral infections.
Article Synopsis
- - Parents of children diagnosed with Rubinstein-Taybi syndrome (RTS) shared their experiences through interviews, revealing the emotional challenges linked to receiving a diagnosis for a rare genetic condition.
- - The timing of the diagnosis was crucial; parents felt that the best time for a diagnosis should occur after initial bonding but before significant parental concerns arise, allowing for emotional balance.
- - While parents sought a diagnosis to alleviate uncertainty, they found that new concerns emerged after diagnosis, emphasizing the importance of a label in improving social acceptance and access to necessary resources.
Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results.
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