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GENETIC EPIDEMIOLOGY AND POPULATION STRATIFICATION 🎗

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“Population structure can lead to spurious associations between a candidate marker and a phenotype.” - Professor Jonathan K. Pritchard 🧬 Genetic epidemiology investigates how genetic variation, environmental exposures, & lifestyle factors influence disease occurrence & susceptibility across populations. By integrating genetics, epidemiology, statistics, & public health, it supports the discovery of disease-associated variants, risk prediction, & precision medicine. However, population structure must be considered to ensure valid genetic associations. 🔹 Population stratification occurs when a study population contains subgroups with different genetic ancestry & allele frequencies. Influenced by migration, geographical isolation, genetic drift, founder effects, endogamy, & admixture, these differences can complicate genome-wide association studies (GWAS). 🔹 Evolutionary & demographic influences shape the distribution of genetic variants across p...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "PROBABILITY MOON" By Nancy Kress   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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HEREDITARY CANCER SYNDROMES AND GENETIC RISK 🎗

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“Hereditary cancer is not rare, but the diagnosis of hereditary cancer is.” -Dr. Henry T. Lynch 🧬 Hereditary cancer syndromes are genetic conditions that increase susceptibility to particular cancers. Unlike most cancers, which largely result from acquired genetic alterations, hereditary cancer predisposition can result from a pathogenic germline variant inherited from a parent. These variants may affect DNA repair, cell-cycle regulation, or tumour-suppressor pathways. Important examples include hereditary breast & ovarian cancer syndrome, commonly associated with BRCA1/BRCA2, and Lynch syndrome, associated with pathogenic variants in DNA mismatch-repair genes. 🔹 Genetic risk refers to an increased probability of disease associated with inherited genetic factors. A pathogenic variant does not mean that cancer is inevitable; risk varies according to the gene, variant, sex, age, family history, & other genetic and environmental factors. Some syndromes also predispos...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "THE TERMINAL MAN" By Michael Crichton    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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CONGENITAL ANOMALIES AND DEVELOPMENTAL GENETICS 🎗

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“It's not the number of genes but the control regions that matter.” - Prof. (Emeritus) Lewis Wolpert 🧬 Congenital anomalies are structural or functional abnormalities arising during embryonic or fetal development. They may be detected prenatally, at birth, or later in life. Their causes include chromosomal & single-gene abnormalities, copy-number & regulatory variants, environmental exposures, & interactions between genetic & environmental factors. 🔹 Developmental genetics examines how genes & regulatory networks control embryonic growth & differentiation. Precisely timed processes (including cell proliferation, migration, differentiation, patterning, & organogenesis) depend on pathways such as HOX, PAX, SHH, WNT, & FGF. Importantly, developmental biology is not determined by coding genes alone: enhancers & other regulatory elements control where, when, & how strongly genes are expressed. Disruption of these regulatory networks ...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "MY SISTER'S KEEPER" By Jodi Picoult   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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PRECISION MEDICINE AND POLYGENIC RISK 🎗

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“We’ve known for a long time that there are people out there at high risk for disease based just on their overall genetic variation.” - Dr. Sekar Kathiresan 🧬 Precision medicine aims to shape disease prevention, diagnosis, and treatment to individual characteristics, including genetics, environment, lifestyle, and other biological factors. Advances in genomics have made it possible to identify genetic variants associated with disease susceptibility and treatment response, supporting more individualized approaches to conditions such as cardiovascular disease, cancer, diabetes, infertility, and other complex disorders. 🔹 Polygenic risk is an important component of precision medicine. Many common diseases arise from the combined effects of numerous genetic variants, each contributing a small amount to overall risk. A polygenic risk score (PRS) aggregates these effects to estimate an individual's inherited susceptibility to a particular disease or trait. 🔹 PRSs may support earlie...
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