Dahyun week6
Genetic disorders problems in human
Albinism
- Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes.
- Albinism occurs in all racial and ethnic groups throughout the world.
- Some children with albinism are born with pinkish-white skin, white hair and their eyes are usually light grey, blue or hazel.
- People with albinism usually have poor vision.
- Albinism does not affect general health, intelligence, or lifespan.
Angelman syndrome
- Angelman syndrome is a genetic condition that occurs if a gene called UBE3A is missing or faulty.
- People with Angelman syndrome have severe intellectual disability and delayed development, speak very little and often laugh and smile for no apparent reason.
- Angelman syndrome is usually diagnosed using a genetic test called DNA microarray testing.
- Angelman syndrome can't be cured, but there is a range of therapies that can improve the quality of life of those affected.
Apert syndrome
- Apert syndrome is a rare genetic disorder that affects around 1 in every 65,000 newborn babies. Usually neither parent has the condition, and the gene mutation has come about by chance.
- The mutation, usually evident at birth, causes the bones of the skull to fuse together much earlier than usual, before the brain is fully grown. Pressure from the brain as it grows pushes the bones of the head and face out of shape. This brain compression can affect a child’s intellectual development.
- Apert syndrome also affects the hands and feet and a range of internal body organs.
Fabry disease
- Fabry disease is a genetic disorder that belongs to a group of diseases known as lysosomal storage diseases.
- If you have Fabry disease, you don't have enough of an enzyme that’s needed to break down a certain type of fat in your cells. (An enzyme is a chemical, produced within the body, that helps this process to occur.) As a result, the fat builds up in your body, causing a range of symptoms.
- Fabry disease is an 'X-linked' condition that is usually inherited meaning that it may be passed down from your mother and/or father via an X chromosome. Very rarely, someone may not inherit Fabry disease but instead they may have a spontaneous genetic mutation that causes them to have the condition. Although both sexes can get Fabry disease, males tend to be affected more severely than females.