Medical Genetics

6.

Specific Areas in Medical Genetics

6.1.

Cancer Genetics

6.1.1.

6.1.1.1.

Mechanisms of Activation

6.1.1.1.1.

Point Mutations

6.1.1.1.2.

Gene Amplification

6.1.1.1.3.

Chromosomal Translocations

6.1.1.2.

Examples of Oncogenes

6.1.1.2.1.

6.1.1.2.2.

6.1.1.2.3.

6.1.1.2.4.

6.1.2.

Tumor Suppressor Genes

6.1.2.1.

Mechanisms of Inactivation

6.1.2.1.1.

Loss of Heterozygosity

6.1.2.1.2.

Point Mutations

6.1.2.1.3.

Promoter Methylation

6.1.2.2.

Examples of Tumor Suppressor Genes

6.1.2.2.1.

6.1.2.2.2.

6.1.2.2.3.

6.1.2.2.4.

BRCA1 and BRCA2

6.1.3.

The Two-Hit Hypothesis

6.1.3.1.

Knudson's Model

6.1.3.2.

Germline vs. Somatic Mutations

6.1.3.3.

Loss of Function Requirement

6.1.4.

Hereditary Cancer Syndromes

6.1.4.1.

Hereditary Breast and Ovarian Cancer

6.1.4.1.1.

BRCA1 and BRCA2 Mutations

6.1.4.1.2.

6.1.4.1.3.

Management Options

6.1.4.1.4.

Prophylactic Surgery

6.1.4.2.

6.1.4.2.1.

Mismatch Repair Genes

6.1.4.2.2.

Colorectal Cancer Risk

6.1.4.2.3.

Extracolonic Cancers

6.1.4.2.4.

Surveillance Protocols

6.1.4.3.

Familial Adenomatous Polyposis

6.1.4.3.1.

APC Gene Mutations

6.1.4.3.2.

Colorectal Polyps

6.1.4.3.3.

Prophylactic Colectomy

6.1.4.3.4.

Extracolonic Features

6.1.4.4.

Li-Fraumeni Syndrome

6.1.4.4.1.

6.1.4.4.2.

Multiple Cancer Types

6.1.4.4.3.

Early Onset Cancers

6.1.4.4.4.

Surveillance Challenges

6.1.5.

Somatic vs. Germline Mutations in Cancer

6.1.5.1.

Acquired Mutations

6.1.5.2.

Inherited Predisposition

6.1.5.3.

Tumor Development

6.1.5.4.

Therapeutic Implications

6.1.6.

Genomic Profiling of Tumors for Targeted Therapy

6.1.6.1.

Companion Diagnostics

6.1.6.1.1.

Biomarker Testing

6.1.6.1.2.

Treatment Selection

6.1.6.1.3.

6.1.6.2.

6.1.6.2.1.

Circulating Tumor DNA

6.1.6.2.2.

Minimal Invasive Testing

6.1.6.2.3.

Treatment Monitoring

6.2.

Pharmacogenomics and Pharmacogenetics

6.2.1.

Genetic Variation in Drug Metabolism

6.2.1.1.

Cytochrome P450 Enzymes

6.2.1.1.1.

CYP2D6 Polymorphisms

6.2.1.1.2.

CYP2C19 Polymorphisms

6.2.1.1.3.

CYP3A4 Variations

6.2.1.2.

Phase I and Phase II Enzymes

6.2.1.2.1.

Oxidation Reactions

6.2.1.2.2.

Conjugation Reactions

6.2.1.2.3.

Genetic Polymorphisms

6.2.2.

Genetic Variation in Drug Targets

6.2.2.1.

Receptor Polymorphisms

6.2.2.2.

Transporter Variations

6.2.2.3.

Drug Efficacy Impact

6.2.3.

Clinical Applications

6.2.3.1.

Warfarin Dosing

6.2.3.1.1.

CYP2C9 Genotype

6.2.3.1.2.

VKORC1 Genotype

6.2.3.1.3.

Dosing Algorithms

6.2.3.2.

Clopidogrel Response

6.2.3.2.1.

CYP2C19 Genotype

6.2.3.2.2.

Active Metabolite Formation

6.2.3.2.3.

Alternative Therapies

6.2.3.3.

Thiopurine Toxicity

6.2.3.3.1.

TPMT Deficiency

6.2.3.3.2.

6.2.3.3.3.

Alternative Medications

6.2.3.4.

Carbamazepine Hypersensitivity

6.2.3.4.1.

HLA-B*5701 Association

6.2.3.4.2.

Stevens-Johnson Syndrome

6.2.3.4.3.

Pre-treatment Testing

6.2.4.

Implementation in Clinical Practice

6.2.4.1.

Clinical Decision Support

6.2.4.2.

Electronic Health Records

6.2.4.3.

Provider Education

6.2.4.4.

Cost-Effectiveness

6.3.

6.3.1.

Monogenic Neurological Disorders

6.3.1.1.

Huntington's Disease

6.3.1.1.1.

HTT Gene Mutations

6.3.1.1.2.

CAG Repeat Expansion

6.3.1.1.3.

Anticipation Phenomenon

6.3.1.1.4.

Predictive Testing

6.3.1.2.

Spinal Muscular Atrophy

6.3.1.2.1.

SMN1 Gene Deletions

6.3.1.2.2.

SMN2 Copy Number

6.3.1.2.3.

Severity Correlation

6.3.1.2.4.

6.3.2.

Genetics of Neurodevelopmental Disorders

6.3.2.1.

Autism Spectrum Disorder

6.3.2.1.1.

Genetic Heterogeneity

6.3.2.1.2.

Copy Number Variants

6.3.2.1.3.

Syndromic Forms

6.3.2.1.4.

Environmental Factors

6.3.2.2.

Intellectual Disability

6.3.2.2.1.

X-Linked Causes

6.3.2.2.2.

Autosomal Causes

6.3.2.2.3.

Chromosomal Abnormalities

6.3.2.2.4.

Metabolic Disorders

6.3.3.

Genetics of Neurodegenerative Disorders

6.3.3.1.

Alzheimer's Disease

6.3.3.1.1.

Early-Onset Forms

6.3.3.1.2.

Late-Onset Risk Factors

6.3.3.1.3.

6.3.3.1.4.

6.3.3.2.

Parkinson's Disease

6.3.3.2.1.

Monogenic Forms

6.3.3.2.2.

Risk Factor Genes

6.3.3.2.3.

Environmental Interactions

6.3.3.2.4.

Clinical Heterogeneity

6.3.3.3.

Amyotrophic Lateral Sclerosis

6.3.3.3.1.

6.3.3.3.2.

6.3.3.3.3.

C9orf72 Expansions

6.3.3.3.4.

6.4.

Cardiovascular Genetics

6.4.1.

Inherited Cardiomyopathies

6.4.1.1.

Hypertrophic Cardiomyopathy

6.4.1.1.1.

Sarcomere Gene Mutations

6.4.1.1.2.

Clinical Presentation

6.4.1.1.3.

Sudden Death Risk

6.4.1.1.4.

Family Screening

6.4.1.2.

Dilated Cardiomyopathy

6.4.1.2.1.

6.4.1.2.2.

Clinical Management

6.4.1.2.3.

6.4.1.2.4.

Transplantation

6.4.2.

Inherited Arrhythmias

6.4.2.1.

Long QT Syndrome

6.4.2.1.1.

Ion Channel Mutations

6.4.2.1.2.

QT Prolongation

6.4.2.1.3.

Torsades de Pointes

6.4.2.1.4.

Lifestyle Modifications

6.4.2.2.

Brugada Syndrome

6.4.2.2.1.

SCN5A Mutations

6.4.2.2.2.

ST Elevation Pattern

6.4.2.2.3.

Sudden Death Risk

6.4.2.2.4.

ICD Implantation

6.4.3.

Familial Hypercholesterolemia

6.4.3.1.

LDLR Gene Mutations

6.4.3.2.

Cholesterol Levels

6.4.3.3.

Cardiovascular Risk

6.4.3.4.

Treatment Options

6.4.4.

Genetics of Congenital Heart Defects

6.4.4.1.

Chromosomal Causes

6.4.4.2.

Single Gene Disorders

6.4.4.3.

Environmental Factors

6.4.4.4.

Recurrence Risks

6.5.

Inborn Errors of Metabolism

6.5.1.

Classification of Metabolic Disorders

6.5.1.1.

Amino Acid Disorders

6.5.1.1.1.

Phenylketonuria

6.5.1.1.2.

Maple Syrup Urine Disease

6.5.1.1.3.

6.5.1.2.

Carbohydrate Disorders

6.5.1.2.1.

6.5.1.2.2.

Glycogen Storage Diseases

6.5.1.2.3.

Fructose Intolerance

6.5.1.3.

Lysosomal Storage Diseases

6.5.1.3.1.

Enzyme Deficiencies

6.5.1.3.2.

Substrate Accumulation

6.5.1.3.3.

Progressive Symptoms

6.5.1.4.

Urea Cycle Disorders

6.5.1.4.1.

Ammonia Detoxification

6.5.1.4.2.

6.5.1.4.3.

Neurological Damage

6.5.2.

Phenylketonuria

6.5.2.1.

Pathophysiology

6.5.2.1.1.

PAH Gene Mutations

6.5.2.1.2.

Phenylalanine Accumulation

6.5.2.1.3.

Tyrosine Deficiency

6.5.2.2.

Diagnosis and Management

6.5.2.2.1.

Newborn Screening

6.5.2.2.2.

Dietary Restriction

6.5.2.2.3.

Monitoring Requirements

6.5.2.2.4.

Pregnancy Management

6.5.3.

6.5.3.1.

GALT Gene Mutations

6.5.3.2.

Galactose Metabolism

6.5.3.3.

Clinical Complications

6.5.3.4.

Dietary Management

6.5.4.

Lysosomal Storage Diseases

6.5.4.1.

Gaucher Disease

6.5.4.1.1.

GBA Gene Mutations

6.5.4.1.2.

Glucocerebrosidase Deficiency

6.5.4.1.3.

6.5.4.1.4.

Enzyme Replacement Therapy

6.5.4.2.

Tay-Sachs Disease

6.5.4.2.1.

HEXA Gene Mutations

6.5.4.2.2.

Hexosaminidase A Deficiency

6.5.4.2.3.

Neurodegeneration

6.5.4.2.4.

Carrier Screening

6.5.4.3.

6.5.4.3.1.

GAA Gene Mutations

6.5.4.3.2.

Glycogen Accumulation

6.5.4.3.3.

Muscle Weakness

6.5.4.3.4.

Enzyme Replacement Therapy

6.5.5.

Urea Cycle Disorders

6.5.5.1.

Ornithine Transcarbamylase Deficiency

6.5.5.1.1.

OTC Gene Mutations

6.5.5.1.2.

X-Linked Inheritance

6.5.5.1.3.

6.5.5.1.4.

Dietary Management

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