Rare Disease Day 2024

What's a Rare disease ?

• condition that is common in the population.

• condition that's generally affecting 1 person in 2,000 people.

• it's one of the 20,000 discovered diseases.

• All of the above.

Rare Diseases definition varies from country to country:

• in USA, it's 1 in 200K

• in the UK & Japan it's 1 in 50K.

• In Bahrain, we'll know inshallah upon establishing our Rare Disease Registry.

• all of the above

Rare Disease :

• 70% presents in childhood age.

• average years for reaching a diagnosis is 1-2 years .

• all cancers are rare.

• all rare conditions has a known genetic mutation.

Treatment of Rare Disease :

• Could have a possible Gene therapy.

• Enzyme replacement therapy.

• Surgeries.

• It depends on the affected organ/s and the availability of treatment, but most disease have no definitive cure.

Tags

NGSS.HS-ETS1-3

Which of the following is a Rare Disease ?

• Hypertension

• Diabetes Millitus

• Neurofibromatosis Type 1

• Measles

Why do we celebrate Rare Disease Day ?

• Genetic literacy

• Raise awareness

• show solidarity to those who face a rare condition

• Support research, fund for genetic testing and gene therapy accessibility

When do we celebrate Rare Disease Day ?

• 29 Feb annually.

• 28 Feb annually.

• Last day of February.

• 1st Day of March.

If you suspect that your colleague has a Rare Condition, what advice will you give?

• Search and read on Google.

• Go for Genetic counseling.

• Post on Ask Bahrain page on Instagram.

• Ask the pharmacist in the neibourhood, he will provide guidance for anything.

Genetic testing :

• just like blood sugar test, immediate results.

• takes 4-8 weeks and requires genetic counseling.

• easily accessed.

• very cheap.

The National Genome Centre has some projects, that includes :

• 50K Samples collection for the Bahraini BioBank

• Bahraini Genome Program that sequence and analyze 6K at phase 1.

• Genetic screening for newborns at GH.

• all of the above and more are coming.

Tags

NGSS.HS-LS3-2