1. Biochemical & Genetic abnormalities 2. The Symptoms of Mitochondrial Disease 3. LHON 4. MERRF 5. MELAS 6. Kearns-Sayre Syndrome 7.Mitochondrial Disease Treatment 8. The Prognosis 9. Future Goals

2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components

1. factors inducing chromosome aberration 2. chromosomal aberrations

1. Mitochondrial DNA 2. mtDNA replication 3. Mitochondrial Inheritance

1. REGRESSION TO THE MEAN 2. POLYGENIC INHERITANCE 3. THE MULTIFACTORIAL MODEL 4. THRESHOLD MODEL OF DISEASE 5. SEVERITY OF DISEASE AND RECURRENCE RISK 6. MULTIPLE AFFECTED OFFSPRING AND 7. CONSANGUINITY 8. HALLMARKS OF MULTIFACTORIAL INHERITANCE

1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects

1. Gene Chemistry 2. Gene Structure 3. DNA replication 4. Gene Expression

Introduction Genetic Defects Neural Tube Defect Mouth/facial defects Limb defects Congenital Heart Defects Summary

1. Genetic Counselors 2. Who Should See One 3. What to Expect During a Visit 4. After Counseling

A. Historical background B. Phenotypes in populations C.Genes in populations D.Mapping disease genes E. Complex disorders