6. Please be very respectful when
viewing the following photos and
videos. These are real life
We should be all very grateful for
being healthy, for being who we
are, and having what we have.
Human Diseases
14. Huntington's disease (HD)
is an inherited,
degenerative brain disorder
which results in an eventual
loss of both mental and
physical control. The
disease is also known as
Huntington's chorea.
Chorea means "dance-like
movements" and refers to
the uncontrolled motions
often associated with the
disease.
16. Disease in which the body does
not produce or properly use
insulin.
Insulin is a hormone that is needed to
convert sugar, starches, and other food
into energy needed for daily life.
Genetic mutation can lead to Type
1 diabetes, but no one sure if
relative to a specific gene
17. Cause: x-linked
recessive
1/10 males have, 1/100
females have. Why the
difference?
Individuals are unable
to distinguish shades of
red-green.
Are you color blind?
18. Patients are unable to produce skin
or eye pigments, and thus are
light-sensitive
Autosomal recessive
Therefore, is it monogenic or
chromosomal?
19. Monogenic, autosomal
*Carriers express genes, therefore, is it
dominant or recessive?
*There is also a disease called gigantism
(Andre the Giant)
20. One or both feet can be
affected
Affects 1 out of every 100
births
Risk factors: family history
of disorder and being
male
21. Literally means “bone that is
imperfectly made from the
beginning of life”
Also called “brittle bone
disease”
Most cases caused by
dominant genetic defect or
spontaneous mutation
1 in 20,000 births
22. 1 in 700 children will be
born with a cleft-related
birth defect
Most are boys
If a person has a cleft
defect, there is a 50%
possibility of passing gene
to an offspring
23. Rare, fatal genetic disorder
Name comes from greek
meaning “prematurely old”
Mutation in gene called LMNA
Children usually die of heart
disease by age 8-13
100 cases since 1886