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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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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "MADDADDAM" By Margaret Atwood    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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BIOINFORMATICS: VARIANT CALLING AND ANNOTATION 🎗

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“The genome doesn't come color-coded. You have to figure out which bits matter.” - Professor Eric S. Lander 🧬 NGS can generate millions of DNA reads, but raw sequences do not immediately reveal which genetic differences are important. Variant calling identifies differences from a reference genome, while variant annotation determines their potential biological & clinical significance. They support research into inherited disease, cancer genomics, population variation, & precision medicine. 🔹 Variant calling is the computational identification of genomic variants from sequencing data. A typical workflow includes quality control, read preprocessing, alignment to a reference genome, variant detection, & quality assessment. It can identify single-nucleotide variants (SNVs), SNPs, insertions/deletions (indels), &, with appropriate methods, structural variants. Tools such as GATK, FreeBayes, and bcftools evaluate sequencing evidence & generate variant data commonly...
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