Category: Uncategorized
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Pharmacogenomics studies how our genome influences medication responses, affecting both drug effectiveness and the likelihood of adverse reactions (Gurwitz & Motulsky, 2007). Observing occurrences of adverse drug reactions (ADRs) at different rates in diverse populations can provide evidence for a genetic component to variability. These observations often originate from differences in the frequencies of specific…
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Rett syndrome is a rare disorder with a classic presentation, as well as several variants with differing symptoms. It is generally caused by a random mutation in the MECP2 gene and causes a developmental regression in children, in which they begin to lose fine motor skills and other acquired skills within the first 7-18 months…
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Thiopurine S-methyltransferase is encoded by the TPMT gene. It performs an important function in metabolizing the commonly used thiopurine medication family including azathioprine, 6-mercaptopurine, and 6-thioguanine (Dean & Kane, Mercaptopurine Therapy and TPMT and NUDT15 Genotype, 2020). Thiopurine drugs are used to treat conditions like acute lymphoblastic leukemia, autoimmune disorders, and organ transplant rejection (Relling,…
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The TPMT (thiopurine S-methyltransferase) gene is essential for metabolizing thiopurine drugs, which include 6-mercaptopurine (6-MP), 6-thioguanine (6-TG), and azathioprine. These drugs are primarily used to suppress the immune system in treating autoimmune disorders like Crohn’s disease and rheumatoid arthritis, certain cancers, and to prevent organ rejection for transplant patients. The TPMT enzyme facilitates the S-methylation…
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Human genetics and public health are increasingly intertwined disciplines. Historical breakthroughs in genetics have provided unprecedented insights into the biological basis of health and disease, leading to modernized public health strategies (Mikail, 2008). As our understanding of the human genome expands, so does the potential to prevent disease. Modern genomics study has led to the…
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Abstract: Herpes simplex virus 1 (HSV-1) is a virus that infect a large portion of the population. The virus begins with a primary infection to the epithelial mucosa, then it migrates into neural cells where it lies dormant until stress, dietary changes, or a compromised immune system cause a resurgent infection. The most effective…
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SPAGHETTI was a program designed to generate simulations of genetic populations with specific segregating molecular markers, incorporating realistic complications such as duplicated loci and segregation distortion (Tinker, 2010). It generated output compatible with standard genetic mapping software and facilitated the testing and demonstrating linkage map construction methods. The software, source code, sample files, and instructions…
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Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting women, caused mainly by mutations located on the MECP2 gene found on the X chromosome (Merritt, 2020). MECP2 is a gene that encodes the methyl-CpG binding protein 2 (MeCP2), a regulator of gene expression in the brain. MeCP2 binds to methylated DNA sequences, impacting the activity…
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Landscape genomics is an interdisciplinary field that merges population genetics, landscape ecology, and spatial statistics. The goal of landscape genomics is to understand how environmental factors affect the genetic makeup of populations. The field seeks to uncover the genetic basis of adaptation by linking specific genetic variants to ecological pressures. This can provide powerful insights…
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Nicholas Holmes#, Patrick Muller*, Rishi Patel%, Anisha Tehim&, Atharva Imamdar&, Saachi Yadav&, Sharon Alex&, Vibha Narasayya& and Vinayak Mathur# # Department of Science, Cabrini University, Radnor, PA 19087*Eurofins, Chester Springs, PA 19425 %University of Pennsylvania, Philadelphia, PA 19104 &Penn Summer Prep Program, Philadelphia, PA 19104 Abstract Horizontal gene transfer (HGT) plays a beneficial role in…
Nicholas Holmes Scientific Portfolio 