Publications by authors named "Yam Amir"
The Druze are a distinct group known for their close community, traditions, and consanguineous marriages, dating back to the eleventh century. This practice has led to unique genetic variations, impacting both pathology and gene-associated phenotypes. Some Druze clans, particularly those with exceptional long-lived family heads (ELLI), attracted attention.
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- Rapid trio genome sequencing (rtGS) is being implemented in Israeli neonatal intensive care units (NICUs) to provide advanced care for critically ill newborns suspected of having genetic issues.
- A study conducted from October 2021 to December 2022 involved 130 neonates, leading to a diagnostic rate of 50% for disease-causing genetic variants and 11% for variants of unknown significance (VUS).
- Results showed a mean turnaround time for rapid reports of 7 days, with high engagement from medical staff regarding the clinical utility of the results (82% response rate to questionnaires).
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- Two siblings both exhibited serious heart conditions including cardiomyopathy, hypertension, and arrhythmia, linked to a genetic mutation affecting a specific enzyme related to heart function.
- One sibling's plasma analysis revealed the absence of important proteins, while levels of BNP and a marker for heart tissue damage were elevated, indicating a dysfunctional heart response.
- The findings suggest that BNP cannot replace the role of the ANP pathway, highlighting the essential role of corin in maintaining heart function and overall cardiovascular health.
Psychiatric disorders affect millions of individuals and their families worldwide, and the costs to society are substantial and are expected to rise due to a lack of effective treatments. Personalized medicine-customized treatment tailored to the individual-offers a solution. Although most mental diseases are influenced by genetic and environmental factors, finding genetic biomarkers that predict treatment efficacy has been challenging.
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- Epigenetics involves how genes are influenced by the environment, mainly through changes in gene expression regulation, with stress known to cause such changes.
- This study explored the effects of juvenile and adult stress on glutamic acid decarboxylase genes in rats, analyzing DNA methylation and RNA expression in different brain regions.
- Results showed juvenile stress led to lower methylation in the amygdala but higher methylation in another brain region, with RNA levels decreasing in the juvenile stress group—indicating that stress may have both beneficial and harmful effects depending on the timing and context.
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- Research suggests that both dietary and pharmacologic strategies can help delay aging and its diseases, highlighting the need for simple, effective whole food options for better health as we age.
- Observational studies indicate that nut consumption, particularly walnuts, may reduce mortality risk due to their beneficial components like n-3 fatty acids, fiber, and antioxidants.
- In a study with mice, walnut consumption alongside a high-fat diet showed some health benefits, such as improved glucose levels and exercise capacity, although it did not significantly impact inflammation, antioxidant capacity, or overall survival.
Sea urchins are a minor class of marine invertebrates that share genetic similarities with humans. For example, the sea urchin species is estimated to have 23,300 genes in which the majority of vertebrate gene families are enveloped. Some of the sea urchin species can demonstrate extreme longevity, such as , living for well over 100 years.
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