Curriculum

Neurogenetics

10 one-hour blocks covering the molecular genetics of the nervous system — from foundational concepts to clinical variant interpretation.

Test Your Knowledge

Pre-curriculum baseline and post-curriculum comprehensive assessments

1

Foundations of Genetics

60 min

Introduction to Neurogenetics

An entry point to the field of neurogenetics — how inherited and de novo genetic variants cause neurological disease, the spectrum of neurogenetic disorders, and the clinical framework for evaluating a patient with a suspected genetic neurological condition.

20 min5 sectionsBeginner

Central Dogma & Molecular Genetics

A focused review of molecular genetics for child neurology — emphasizing trinucleotide repeats, tissue-specific splicing, and the molecular consequences of variant types on gene function.

15 min5 sectionsBeginner

Human Chromosome Nomenclature (ISCN)

Master the International System for Human Cytogenomic Nomenclature — the universal language for describing karyotypes, structural rearrangements, and array-based copy number findings.

25 min5 sectionsIntermediate

2

Epigenetics & Mosaicism

55 min

Epigenetics & Methylation in Neurological Disease

A comprehensive exploration of epigenetic mechanisms — DNA methylation, histone modifications, and chromatin remodeling — and their roles in neurological disease. Covers genomic imprinting disorders, X-chromosome inactivation, methylation-based clinical diagnostics, Alzheimer's disease epigenomics, and emerging epigenetic therapies.

30 min5 sectionsAdvanced

Mosaicism in Neurogenetics

A clinical and molecular analysis of mosaicism — the presence of two or more genetically distinct cell populations in a single individual. Covers somatic and germline mosaicism, diagnostic strategies, and the profound implications for recurrence risk counseling in families with apparent de novo conditions.

25 min5 sectionsAdvanced

3

Variant Interpretation

60 min

Variant Interpretation & ACMG Classification

A practical guide to reading and interpreting genetic testing reports in child neurology. Walks through the ACMG/AMP variant classification system using two realistic clinical report examples — an epilepsy gene panel and a WES trio — with step-by-step evidence evaluation. Designed for PGY3–PGY4 child neurology residents who will encounter these reports on service.

30 min6 sectionsAdvanced

CNV Interpretation

A clinical framework for classifying copy number variants — from detection technologies to the ACMG/ClinGen scoring system — with an emphasis on recurrent genomic disorders in neurogenetics.

30 min5 sectionsIntermediate

4

Counseling, Test Selection & Archetypal Neurogenetic Disorders (~70 min)

70 min

Genetic Counseling & Ethics in Neurogenetics

A comprehensive overview of the genetic counseling process, predictive and presymptomatic testing, pediatric considerations, reproductive options, and ethical frameworks — with emphasis on neurogenetic conditions and clinical decision-making.

20 min5 sectionsIntermediate

Diagnostic Yields Across Phenotypes

A quantitative framework for selecting genomic tests in pediatric neurology. Covers CMA, WES, and WGS yields across epilepsy, neurodevelopmental, movement, and white-matter phenotypes — with real numbers from meta-analyses and large cohort studies, and the clinical reasoning behind test selection.

20 min6 sectionsAdvanced

Classic Neurodevelopmental Genetic Disorders

A comprehensive overview of three classic neurodevelopmental genetic disorders — Tuberous Sclerosis Complex (TSC), Fragile X Syndrome, and Rett Syndrome — covering molecular pathogenesis, clinical recognition, targeted therapies, and genetic testing strategies for each condition.

30 min6 sectionsIntermediate

5

Epilepsy & Pharmacogenomics

50 min

Genetic Epilepsies

An introduction to the genetics of epilepsy — from neonatal-onset epileptic encephalopathies and ion channelopathies to inborn errors of metabolism causing seizures, with a practical focus on genetic diagnosis and treatment implications.

30 min5 sectionsIntermediate

Pharmacogenetics in Neurology

An applied guide to pharmacogenetics for the practicing neurologist — covering CYP450 enzyme genetics, drug-gene interactions relevant to antiepileptic and neuropsychiatric drug therapy, HLA-associated hypersensitivity reactions, and the clinical implementation of pharmacogenetic testing.

20 min5 sectionsAdvanced

6

Cerebral Palsy, Dystonia & Ataxia

60 min

Genetic Causes of Cerebral Palsy

A modern genetics perspective on cerebral palsy — challenging the traditional view of CP as purely an acquired perinatal injury and examining the growing evidence that genetic variants, chromosomal abnormalities, and brain malformations underlie a substantial proportion of cases. Covers diagnostic approach, genotype-phenotype correlations, and counseling.

20 min5 sectionsIntermediate

Genetic Dystonias

A comprehensive guide to the genetic dystonias — from clinical classification and phenomenology through the molecular genetics of the DYT disorders, dopa-responsive dystonia, and combined dystonia-parkinsonism syndromes. Covers diagnostic evaluation, deep brain stimulation, and targeted pharmacological approaches.

20 min5 sectionsAdvanced

Hereditary Ataxias

A clinical and genetic approach to the hereditary ataxias — covering the differential diagnosis of acute versus progressive ataxia, diagnostic evaluation strategies, and the molecular genetics and management of Friedreich ataxia and the spinocerebellar ataxias.

20 min5 sectionsIntermediate

7

Inborn Errors of Metabolism & Mitochondrial Disease

60 min

Inborn Errors of Metabolism in Neurology

A neurologist's guide to inborn errors of metabolism (IEM) presenting with neurological symptoms — from newborn screening detection through the biochemical basis, clinical presentations, and evolving treatments of the major neurometabolic disorders affecting the nervous system.

30 min5 sectionsAdvanced

Mitochondrial Disease

The genetics and clinical management of mitochondrial disease — covering the dual genetic origins (nuclear and mitochondrial DNA), the unique principles of mitochondrial inheritance (heteroplasmy, bottleneck effect, threshold effect), and the major mitochondrial syndromes encountered in neurogenetics.

30 min5 sectionsAdvanced

8

Stroke & Neuroimaging Pattern Recognition

50 min

Genetic Causes of Stroke

A clinical genetics approach to stroke in children and young adults — covering monogenic stroke syndromes, CADASIL, mitochondrial stroke-like episodes, hereditary coagulopathies, and the role of genetic testing in guiding diagnosis and secondary prevention.

25 min5 sectionsAdvanced

Neuroimaging Pattern Recognition in Neurogenetics

A systematic approach to recognizing MRI patterns that should trigger genetic testing in neurological disease — covering basal ganglia and deep gray matter abnormalities, white matter patterns in leukodystrophies, malformations of cortical development, posterior fossa anomalies, and stroke-like presentations with genetic underpinnings.

25 min5 sectionsIntermediate

9

Neuromuscular Disease & Gene Therapies

55 min

Genetic Neuromuscular Disorders

A genetics-focused guide to hereditary neuromuscular disorders — spanning the muscular dystrophies, spinal muscular atrophy, congenital myopathies, inherited neuropathies, and channelopathies. Emphasizes molecular diagnosis, genotype-phenotype correlations, and the rapidly evolving therapeutic landscape.

30 min5 sectionsAdvanced

Gene and Molecular Therapies in Neurogenetics

A comprehensive overview of gene therapy, antisense oligonucleotide therapy, and small-molecule precision therapies for neurological genetic diseases — covering vector biology, approved treatments, ongoing clinical trials, and the practical and ethical considerations of delivering these transformative therapies.

25 min5 sectionsAdvanced

10

Dual Diagnosis & Integrative Cases

50 min

Dual Diagnosis: Neurogenetics and Psychiatric Comorbidity

A clinical framework for understanding and managing dual diagnosis — the co-occurrence of a neurogenetic condition with behavioral, psychiatric, or intellectual disability. Covers chromosomal behavior phenotypes, psychiatric manifestations of specific neurogenetic syndromes, diagnostic evaluation, and integrated management strategies.

20 min5 sectionsIntermediate

Clinical Decision-Making

Integrative Virtual Patient Cases

Three integrative virtual patient cases that thread across multiple neurogenetics modules — neonatal seizures, progressive ataxia, and a cerebral palsy mimic. Each case challenges learners to synthesize clinical reasoning, genetic testing strategy, variant interpretation, and precision treatment in realistic clinical scenarios.

30 min6 sectionsAdvanced