⭐ Featured Case · Now Playing
The Child Who Keeps Falling
A 4-year-old with hypotonia, delayed milestones, and a constellation that most primary care physicians miss — until it's been 4 years. Can you shorten the odyssey?
⭐ New Case · AADC Deficiency
The Baby Who Wouldn't Stop Rolling Her Eyes
A 4-month-old with oculogyric crises, profound hypotonia, and autonomic dysfunction. Normal MRI. Normal EEG. And a primary care pediatrician who almost called it cerebral palsy. FDA-approved gene therapy — 2024.
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Genetics Reasoning — Foundations to Advanced
Complete in order for maximum pattern-building, or jump to any topic
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Unit 1 — Pattern Recognition: When to Think Genetically
Dysmorphic features, family history red flags, and the phenotypic fingerprint approach
+96 XP
4 cases
2
Unit 2 — Chromosomal Disorders & Microarray Interpretation
Trisomies, deletions, duplications — when to order CMA vs karyotype vs FISH
+120 XP
4 cases
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Unit 3 — Single-Gene Disorders & Mendelian Reasoning
Autosomal dominant, recessive, X-linked — interpreting pedigrees and sequencing results
+144 XP
3 cases
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Unit 4 — Allergy & Immunology Genetic Overlap
HAE, primary immunodeficiencies, atopic triad genetics, and mast cell disorders
+120 XP
3 cases
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Unit 5 — Cancer Predisposition Syndromes
BRCA, Lynch syndrome, Li-Fraumeni — when to refer, test, and counsel
+120 XP
2 cases
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Unit 6 — Pharmacogenomics in Clinical Practice
CYP450 variants, warfarin sensitivity, codeine toxicity, and actionable PGx
+96 XP
2 cases