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CASE STUDY: CONGENITAL ANOMALIES, RARE DISEASES AND INHERITED DISORDERS 🎗

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“Genomic medicine has the potential to transform the diagnosis and treatment of rare diseases.” - Dr. Eric D. Green 🧬 Congenital anomalies, rare diseases and inherited disorders are central to human genetics because they reveal how genomic, chromosomal and environmental factors influence development and lifelong health. Congenital anomalies may arise from genetic variants, chromosomal abnormalities, infections, nutritional factors or gene-environment interactions. Although individual rare diseases are uncommon, collectively they affect millions worldwide. 🔹 Down syndrome is most commonly caused by trisomy 21 and hints the importance of cytogenetics, prenatal screening, diagnostic testing and genetic counselling. Non-invasive prenatal testing (NIPT) has substantially improved screening accuracy, although positive screening results require diagnostic confirmation. Importantly, genomic information should support (not define) expectations about an individual's abilities, health or qu...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "THE YEAR OF THE FLOOD" By Margaret Atwood   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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CHORIONIC VILLUS SAMPLING AND AMNIOCENTESIS 🎗

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"Prenatal diagnosis has transformed the practice of medical genetics.” - Dr. Aubrey Milunsky 🧬 Chorionic villus sampling (CVS) and amniocentesis remain two epitomic invasive procedures in prenatal genetic diagnosis. Unlike screening approaches such as ultrasound and cell-free DNA testing, they provide diagnostic fetal-derived material for chromosomal and molecular analysis.      🔹 Chorionic villus sampling (CVS) is generally performed at 10–13 weeks of gestation. Chorionic villi are obtained from the placenta through a transabdominal or transcervical approach under ultrasound guidance. The sample can support karyotyping, chromosomal microarray, and targeted molecular testing, enabling relatively early diagnosis of conditions such as trisomy 21, 18 and 13, as well as selected single-gene disorders.       🔹 Amniocentesis is typically performed from 15 weeks onward. A small volume of amniotic fluid is collected transabdominally under ultrasound ...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "CHILDREN OF TIME By Adrian Tchaikovsky    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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REPRODUCTIVE GENETICS: GAMETOGENESIS, MEIOSIS, FERTILIZATION AND GENETIC VARIATION 🎗️

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“Every independently conceived person is biologically and genetically different.” Professor Kenneth K. Kidd 🧬 Reproductive genetics examines how genetic information is transmitted and reshuffled during human reproduction. Gametogenesis, meiosis, fertilization and genetic variation are interconnected processes that generate genetically distinct offspring while maintaining the chromosome complement of the species. 🔹 Gametogenesis produces haploid gametes from germ cells. Spermatogenesis generates spermatozoa in the testes, whereas oogenesis produces mature oocytes in the ovaries. Through these processes, human gametes normally acquire 23 chromosomes, preparing them for the restoration of diploidy at fertilization. 🔹 Meiosis is the specialized cell division underlying gamete formation. After one round of DNA replication, meiosis I separates homologous chromosomes and meiosis II separates sister chromatids. During prophase I, homologous chromosomes undergo recombination a...
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WEEKEND READS 📚

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Recommended book of the weekend: 🍃 ☕ ➡️ "BLOOD MUSIC" By Greg Bear   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
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DNA METHYLATION & EPIGENETIC REGULATION: CPG ISLANDS, DNMTS, TET ENZYMES & METHYLATION PATTERNS 🎗

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“DNA methylation is an epigenetic mark” involved in regulating transcription and maintaining cellular identity. -Dr. Peter A. Jones 🧬 DNA methylation is an epigenetic mechanism regulating gene activity without changing the DNA sequence. Most commonly, a methyl group is added to the 5-carbon of cytosine within 5′-CpG-3′ dinucleotides, forming 5-methylcytosine (5mC). It contributes to transcriptional regulation, cellular differentiation, genomic stability, development, genomic imprinting and cell identity. 🔹 CpG islands are GC- and CpG-rich regions, often near gene promoters. Many promoter-associated CpG islands remain unmethylated when genes are active, whereas aberrant promoter methylation can contribute to transcriptional repression through altered regulatory-factor binding and recruitment of chromatin-remodelling proteins. Importantly, methylation is context-dependent: its effects vary across promoters, enhancers, gene bodies and repetitive elements. 🔹 DNMTs are the pr...
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