Abubakar Abubakar

Recommended book of the weekend: 🍃 ☕ ➡️ "PROBABILITY MOON" By Nancy Kress   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "THE TERMINAL MAN" By Michael Crichton    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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 ...

Recommended book of the weekend: 🍃 ☕ ➡️ "MY SISTER'S KEEPER" By Jodi Picoult   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "MADDADDAM" By Margaret Atwood    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "EON" By Greg Bear   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“The study of gene expression is central to understanding biological processes.” - Professor Victor H. Velculescu 🧬 Functional genomics investigates the biological functions, regulation, and interactions of genes and their products. Unlike traditional genomics, by integrating high-throughput technologies with computational biology, it enables genome-wide investigation of biological systems. Gene-expression analysis is central to this field because changes in transcription can reveal cellular states, developmental processes, environmental responses, and disease mechanisms. 🔹 Gene-expression analysis measures RNA activity, particularly messenger RNA (mRNA), within cells or tissues. Major approaches include RT-qPCR, microarrays, and RNA-seq. RT-qPCR provides sensitive measurement of selected transcripts; microarrays enable parallel analysis of thousands of known transcripts; while RNA-seq offers broader characterization of transcripts, alternative splicing, and previously unannotated RN...

Recommended book of the weekend: 🍃 ☕ ➡️ "PREY" By Michael Crichton 🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "THE YEAR OF THE FLOOD" By Margaret Atwood   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

"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 ...

Recommended book of the weekend: 🍃 ☕ ➡️ "CHILDREN OF TIME By Adrian Tchaikovsky    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "BLOOD MUSIC" By Greg Bear   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "NEXUS" By Yuval Noah Harari   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

"The genome is the software of life." - J. Craig Venter 🧬 The Human Genome Project (HGP) was one of the most transformative achievements in modern biology. Launched in 1990 and completed in 2003, this international collaboration produced the first human reference genome (3.2 billion base pairs), transforming biomedical research. It accelerated next-generation sequencing, bioinformatics, precision medicine, and our understanding of inherited diseases, cancer, infectious diseases, and human evolution.      🔹 Despite its success, the HGP had important limitations. The original reference genome was derived from a limited number of individuals and could not fully represent global human genetic diversity. Highly repetitive regions, structural variants, centromeres, telomeres, and population-specific sequences remained incomplete. In 2022, the Telomere-to-Telomere (T2T) Consortium generated the first essentially complete human genome, demonstrating that a single li...