GENETIC DISEASES

ACHONDROPLASIA

What is it?

What type of gene controls the inheritance of achondroplasia?

Can parents who do not have achondroplasia have a child with the disease?

List some symptoms

Watch the two video segments below on Achondroplasia

Achondroplasia: Genetic Causes
Achondroplasia Genetics Project

ALBINISM

What is it?

List some symptoms

What are some possible complications?

Does albinism affect lifespan?

CYSTIC FIBROSIS

What is it?

What 2 body parts are affected by Cystic Fibrosis?

What substance does the body over produce when a person has Cystic Fibrosis?

HOw does a person inherit cystic fibrosis?

Watch the 2 video segments on cystic fibrosis below.

What is Cystic Fibrosis?

DUCHENNE MUSCULAR DYSTROPHY

What is it?

Who is most affected?

Between what ages is the disease usually diagnosed?

What happens to muscles over time?

Watch the video segment below on muscular dystrophy

BrainPOP animation about Duchenne Muscular Dystrophy

HUNTINGTON'S DISEASE

What is it?

What type of gene controls the inheritance of Huntington's Disease? (dominant, recessive, sex-linked, etc)

Between what ages is the on set of Huntington's Disease most common?

what are some symptoms?

Click on the link below...information is provided as well as a video segment when you scroll further down the page

Watch the video segment below on Huntington's Disease

CBS Special on Huntington's Disease/Chris Furbee

PHENYLKETONURIA (PKU)

What is it?

What are some symptoms?

Describe how PKU is treated.

What does the buildup of phenylalanine cause

Watch the video segment below on PKU

Phenylketonuria or PKU

SICKLE CELL ANEMIA

What is it?

What are some symptoms?

What cells are affected?

What protein is affected in Sickle Cell Anemia?

Click on the two links below for animation and video on sickle cell anemia

TAY SACHS

What is it?

What are the symptoms?

When are symptoms first seen?

What is the lifespan of someone with Tay Sachs?

Watch the two video segments below on Tay Sachs Disease

Nathan's Story; Tay-Sachs Disease in the Irish Population
Tay Sachs - A Deadly Disorder

HEMOPHILIA

What is it?

What are some symptoms?

What is usually the cause of bleeding in hemophiliacs

How is hemophilia treated

Watch video below on hemophilia

Hemophilia Presentation

RICKETS

What is it?

What are some symptoms?

How is Rickets inherited?

How is RICKETS treated

In what population is Rickets more common?

Rickets Disease