Statistics
Famous Mutations
One in a Million
Not Rare, But...
Diseases in Media
100

Approximately how many Americans live with a rare disease?

What is 25 to 30 million?

100
This disease is caused by trisomy of the 21st chromosome.

What is Down Syndrome?

100

This percentage of rare diseases affect fewer than one in every one million individuals. 

What is 85?

100
This disease is the most common form of dementia.

What is Alzheimer's?

100

This month is recognized a Rare Disease Month.

What is February?

200

According to the National Organization for Rare Disorders, there are more than this many distinct known rare diseases.

What is 10,000?

200

Mutations in the CFTR gene on chromosome 7 are associated with this disease.

What is cystic fibrosis?

200

Fatal Familial Insomnia is a rare neurodegenerative disease that causes this to occur.

What is death by due to severe insomnia?

200

Familial Hypercholesterolemia causes high levels of this lipid.

What is cholesterol?

200

This day is recognized as Rare Disease Day.

What is February 28?

300
This percentage of cancers are considered to be rare.

What is 20?

300

Mutations in the MDM gene on the X chromosome are associated with what muscular disorder?

What is Duchenne Muscular Dystrophy?

300

Fibrodysplasia Ossificans Progressiva (FOP), better known as Stone Man Syndrome, causes this to occur.

What is muscle turning into bone? 

300

This disorder is caused by an XXY mutation.

What is Klinefelter Syndrome?

300

Auggie, the main character in Wonder, lives with this disorder.

What is Treacher Collins Syndrome?

400
This percentage of all rare disorders are considered to be genetic.

What is 80?

400

This gene that shares its name with a famous childhood cartoon plays a role in development, and when abnormally activated, can lead to cancer.

What is the Sonic Hedgehog gene?

400

Creutzfeldt–Jakob Disease, a prion disease causing rapid dementia, is similar to this more famous disease.

What is Mad-Cow Disease?

400

Mutations in the BRKA1 and BRKA2 genes are associated with this common disease.

What is breast cancer?

400

The main characters in Five Feet Apart both live with this disorder.

What is cystic fibrosis?

500
This percentage of all rare genetic disorders start in childhood.

What is 70?

500
This gene mutation can cause legs to grow out of eyes in fruit flies.

What is hox genes?

500

This disorder, caused by mutations in the LMNA gene, causes accelerated aging in children.

What is Hutchinson-Gilford Progeria Syndrome?

500

This disorder, which affects your skin and nervous system, is abrievated as NF1.

What is Neurofibromatosis type 1?

500

Less than this percentage of rare diseases have been represented in media.

What is two?