Category: Uncategorized
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Hemophilia is a classic example of a monogenic disorder, making it a cornerstone for the application and advancement of molecular genetic testing. It is an X-linked recessive bleeding disorder primarily affecting males, defined at the molecular level by mutations in one of two genes on the X chromosome. Mutations in the F8 gene cause Hemophilia…
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Modern genomics employs a diverse toolkit to identify the complex relationship between genes, environment, and phenotype. Two recent studies, focused on different organisms and traits, demonstrate the complementary nature of modern research strategies. One study represents a bottom-up functional genomics approach, where a specific gene is identified and its mechanism is validated through direct genetic…
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Rapid advancements in human genetics and genomics have introduced an era of unprecedented potential for understanding disease and improving diagnostics. However, this progress brings ethical challenges, particularly concerning the privacy of genetic information and the potential for discrimination. Completing the Human Genome Project marked a turning point, transforming biology and medicine by providing a comprehensive…
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The field of neurodevelopmental genetics is tasked with unraveling the biological underpinnings of conditions that are defined by behavior but have their roots in the genome. Among these, Autism Spectrum Disorder (ASD) presents one of the most formidable challenges due to its profound clinical and etiological heterogeneity. The diagnostic journey for a family with a…
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Genetic testing has expanded from clinical settings into the commercial sphere, offering insights into ancestry, health risks, and diagnoses. The rapid proliferation raises questions about the accuracy of these tests and their practical value (Wakefield et al., 2019). Determining whether a genetic test is valid and useful requires careful evaluation of its analytical performance, ability…
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The advent of non-invasive prenatal testing (NIPT) has revolutionized prenatal care, offering pregnant individuals a highly accurate method for screening for common fetal chromosomal abnormalities. This helps parents determine prevention measures or treatments for specific genetic disorders, such as trisomy 21 (Down Syndrome). Non-invasive prenatal testing is a screening method that analyzes cell-free DNA (cfDNA)…
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Epigenetics offers a framework for understanding how gene expression can be modified without altering the underlying DNA sequence (Gibney & Nolan, 2010). This concept is fundamental because nearly all cells within an organism contain the exact genetic blueprint, yet specialized cells activate only the subset of genes necessary for their specific identity and function. While…
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The legal regulation of marriage between close relatives, known as consanguinity laws, has deep historical roots in the United States. These laws draw from a mixture of English common law, religious doctrine, and social customs. While prohibitions on incest have ancient origins, the specific state laws banning cousin marriage in the U.S. began to appear…
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The study by Teng et al (2017) provides a detailed population genomic analysis of the Brown Norway rat and its sibling species, Rattus nitidus, to reconstruct their evolutionary history. The main findings reveal that the speciation event separating the two rat species likely occurred during the drastic climatic changes of the Middle Pleistocene. Following this…
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Our laboratory seeks to answer the following question: Is plastic pollution driving an evolutionary response in green sea turtles (Chelonia mydas) by selecting for genes that help them differentiate between their natural prey and plastic debris? This study will investigate whether populations in high-pollution areas show genomic signatures of recent natural selection. Green sea turtles…
Nicholas Holmes Scientific Portfolio 