Publications by authors named "A van den Wijngaard"
Article Synopsis
- Systemic immune-mediated diseases (SIDs) may contribute to dilated cardiomyopathy (DCM), and this study aimed to explore the genetic predispositions present in DCM patients with SIDs.
- The research involved 183 DCM-SID patients, identifying a significantly higher prevalence of pathogenic genetic variants in these individuals compared to healthy controls and DCM patients without SIDs.
- Findings suggest that about 17-20% of DCM patients with SIDs have pathogenic variants, particularly truncating variants like TTN, indicating the importance of genetic testing for understanding the causes of immune-related DCM.
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or mitochondrial DNA from single or few-cells biopsied from in vitro fertilised (IVF) embryos is challenging. PGT aims to select IVF embryos without genetic abnormalities.
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- The study looks at how the endometrium (the inner lining of the uterus) changes as women get older and whether these changes affect their ability to have babies.
- It was found that older women (over 45) have different endometrial cells and gene activity compared to younger women, which could make it harder for embryos to implant.
- The research included 44 women undergoing hormone treatment and examined biopsies to see how ready their endometrium was for pregnancy at different ages.
Background: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking.
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- Genetic laboratories currently use diverse workflows to diagnose hereditary and congenital diseases, and this study assesses the potential of genome sequencing (GS) to streamline these processes.
- The researchers tested GS on 1,000 cases with known genetic variants to evaluate its effectiveness compared to existing methods, finding that GS detected 95% of variants across different categories.
- The results suggest that adopting a GS-first approach could replace multiple workflows in around 85% of clinical cases, allowing for more efficient and comprehensive diagnostics for rare genetic diseases.