Genetic Disorders

Keywords

Diseases, disorder, condition, genetics, genes, cystic fibrosis, Turner syndrome, Klinefelter syndrome, Patau's syndrome, Down's syndome, generations, mutations.

Introduction

A genetic disease, or disorder, is a disease that can happen to someone later in life because of a genetic trait (such as Huntingdon's Disease), or that someone is born with (such as Down's Syndrome). What they have in common are that they are types of genetic disease or disorder.

Mutations

So, a genetic disease is a mutation of someone's genes, and they are passed down through generations. So if your father had a genetic disorder, he can pass it on to you, and so on with your children, and your children's children. The same goes for it back through the family tree.

It can also skip a generation. That's right, if your father didn't have a genetic disorder, but your grandfather did, then you could effectively have this disorder.

There are also different types of disorder, as follows:

• Single-gene diseases: caused by a mutation in one of your genes. They are currently a major focus of gene therapy research.
• Chromosomal diseases: this is where chromosomes are missing are altered.
• Autosomal dominant diseases: people who carry a single mutated copy of a gene in a each cell will be affected. This means that one side of your family tree will have this disease.
• Autosomal recessive diseases: people who carry this, must have 2 mutated copies in order for it to be passed down.
• Mitochondrial diseases: only the female will pass this type of disease down to younger generations.
• X-Linked dominant diseases: these are more common in females than in males.
• X-Linked recessive diseases: these are more common in males than females.

Interesting fact: a 7-year-old girl named Olivia is the only known case of Chromosome 6 deletion. She does not feel hunger, pain or need to sleep. In 2016, she was hit by a car and dragged nearly 100 feet, but felt no pain and emerged with only minor injuries.

Common Genetic Diseases

Some common genetic diseases include:

• Cystic Fibrosis
• Turner Syndrome
• Crohn's Disease
• Klinefelter Syndrome
• Patau's Syndrome
• Down's Syndrome
• Edward's Syndrome