1. The Cell: Structure and Function
Organelle Disorders

2. The Cell is the basic unit of life.
It is important to understand the parts within the cell (called organelles) and the specific jobs that they do.
The following slides show Genetic disorders (caused by gene mutations) that disrupt the functioning of a particular cell organelle.

3. Genetic Conditions that Affect the Golgi Apparatus
Alzheimer’s Disease Hailey Hailey Disease

4. Genetic Conditions that Affect the Nucleolus
Treacher Collins Syndrome
Survival Motor neuron spinal muscular atrophy

5. Genetic Conditions that Affect the Nuclear Envelope
Emery-Dreifuss Muscular Dystrophy
Progeria

6. Genetic Conditions that Affect the Mitochondria
Barth Disease
Luft Disease

7. Genetic Conditions that Affect the Ribosomes
Diamond- Blackfan Anemia
Shwachman-Diamond
Syndrome

8. Genetic Conditions that Affect the Cell Membrane
Hyaline Membrane Disease
Cystic Fibrosis
(ER and cell membrane)

9. Genetic Conditions that Affect the Centrioles
Meckel-Gruber Syndrome

10. Genetic Conditions that Affect the Cytoskeleton
Sickle Cell Anemia
Duchenne MD

11. Genetic Conditions that Affect the Lysosomes
Fabry Disease
Tay Sachs Disease
Gouchers
Pompe Disease