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CONGENITAL DISORDERS AND DEVELOPMENTAL PATHWAYS πŸŽ—

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“The dream of every cell is to become two cells.” - FranΓ§ois Jacob 🧬 Congenital disorders are structural, functional, metabolic, or developmental abnormalities that originate during intrauterine development and may be detected before birth, at delivery, or later in life. They can arise from genetic variants, chromosomal abnormalities, maternal conditions, environmental exposures, or interactions among these factors. Developmental pathways coordinate cell proliferation, differentiation, migration, signalling, and organ formation. Disruption of these tightly regulated processes can alter normal embryogenesis and produce characteristic clinical phenotypes. πŸ”Ή Chromosomal abnormalities, single-gene variants, and changes in gene regulation can disrupt developmental processes. The Sonic Hedgehog (SHH), WNT, Notch, and transforming growth factor-beta (TGF-Ξ²) pathways regulate essential events in embryonic patterning and organogenesis. For example, impaired SHH signalling is associated with h...
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WEEKEND READS πŸ“š

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Recommended book of the weekend: πŸƒ ☕ ➡️ "THE SPEED OF DARK" By Elizabeth Moon   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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GENETIC EPIDEMIOLOGY AND POPULATION STRATIFICATION πŸŽ—

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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. πŸ”Ή 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). πŸ”Ή Evolutionary & demographic influences shape the distribution of genetic variants across p...
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WEEKEND READS πŸ“š

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Recommended book of the weekend: πŸƒ ☕ ➡️ "PROBABILITY MOON" By Nancy Kress   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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HEREDITARY CANCER SYNDROMES AND GENETIC RISK πŸŽ—

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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. πŸ”Ή 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 πŸ“š

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Recommended book of the weekend: πŸƒ ☕ ➡️ "THE TERMINAL MAN" By Michael Crichton    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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CONGENITAL ANOMALIES AND DEVELOPMENTAL GENETICS πŸŽ—

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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. πŸ”Ή 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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