Inherited + acquired genetic disease: Mendelian disorders / chromosomal abnormalities / pharmacogenomics / cancer genomics / genetic counseling / newborn screening / GWAS.
Medical Genetics And Genomics
Mendelian disorders + OMIM
OMIM ~16000 genetic-conditions catalogued. Autosomal-dominant / recessive / X-linked / mitochondrial. Examples: Huntington /…
Chromosomal abnormality + aneuploidy
Trisomy-21 (Down) / 18 / 13; Turner XO / Klinefelter XXY. Karyotype + FISH + chromosomal-microarray-analysis (CMA). NIPT…
Pharmacogenomics (CYP / warfarin)
CYP2D6 / CYP2C19 / CYP3A polymorphisms drive drug-metabolism variation. Warfarin (CYP2C9 + VKORC1) / clopidogrel (CYP2C19). PharmGKB + CPIC…
Cancer genomics (TCGA / ICGC)
TCGA 2006-2018 / ICGC 2008-2018 / ICGC-Argo present. ~33 cancer-types sequenced. Driver vs passenger mutations. Mutation-signatures…
Genetic counseling (Bayesian risk)
Bayesian risk-modification using prior + likelihood from family-history + carrier-test results. Pedigree-construction + recurrence-risk for…
Newborn screening (PKU / CF / SCID)
Guthrie-card 1962 PKU; modern: 30+ conditions screened MS/MS + genetic-test. SCID 2010 added (national consensus). HRSA Recommended Uniform…
GWAS + polygenic risk scores
Manolio 2009 / Khera 2018 PRS for CAD / T2D / breast-cancer. SNP-association studies on 100k-1M individuals. UK Biobank + All of Us.…
Rare disease (Orphanet / 100k Genomes)
~7000 rare-diseases (each <1/2000); collectively ~1 in 17. UK 100k Genomes 2018; Genomics-England. Diagnostic-odyssey reduction via WGS.…
CRISPR gene therapy (clinical)
Casgevy 2023 (FDA) sickle-cell + β-thalassemia first-approved CRISPR therapy. Vertex-CRISPR + bluebird Skysona / Zynteglo.…
Epigenetic disease + imprinting disorders
Prader-Willi / Angelman / Beckwith-Wiedemann / Silver-Russell syndromes — UPD or imprinting-defect. DNA-methylation / histone-mods.…
Metabolomics (clinical / newborn)
Targeted MS/MS for ~100 inborn-errors-of-metabolism (PKU / MSUD / OAs / FAOs). Untargeted-metabolomics for novel-biomarker discovery.…
Genetic discrimination + GINA
US GINA 2008 prohibits genetic-info-discrimination in health-insurance + employment (not life / disability). EU GDPR + national-laws vary.…
Inborn errors (Garrod 1908)
A Garrod 1908 'Inborn Errors of Metabolism' alkaptonuria + 4 disorders; foundational text in human-genetics.
OMIM (McKusick 1966)
V McKusick 1966 founded OMIM; modern 25000+ Mendelian phenotypes catalogued; foundation of clinical-genetics.
GWAS (Hindorff 2009)
Hindorff-Manolio 2009 + GWAS Catalog; modern 600000+ SNP-disease associations; PRS polygenic-risk-score clinical adoption.
Clinical exome (Yang 2013)
Yang 2013 + Lee 2014 clinical exome-sequencing 25-50% diagnostic-yield; modern WGS + RNA-seq + long-read; rare-disease 2025 first-line.
NGS revolution (Bentley 2008)
Bentley 2008 Solexa/Illumina; modern $200/genome 2024 + UK 100K-Genomes + All-of-Us; transformed medical-genomics.
Casgevy (FDA 2023)
Vertex-CRISPR Casgevy FDA 2023 first-approved CRISPR-therapy for sickle-cell; modern in-vivo PCSK9 + ATTR Verve 2024.