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What causes CDG?

Most CDG are autosomal recessive diseases which means that a person only has the condition if he/she has two faulty copies of a gene. Note that, for every single gene (and humans have approximately 25 000), we inherit one copy from our mother and one from our father. So, if you only have one altered gene you won’t live with CDG. You will be a carrier. Basically, you can pass down the faulty gene copy to your children. If you (or your child) have a CDG , before having children you should consult with a genetic counsellor and/or geneticist.

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HNEkidshealth has released the following video that describes autosomal recessive inheritance where healthy carrier parents have a 25% chance of having a child affected with a particular genetic condition.

For further learning:

Check out the following video below where Hank and his brother John discuss heredity:

 

Watch the following video to learn more about the genome, and discover how differences in your DNA sequence can have a big effect on how your body works.

Medline Plus explains here what are the different ways a genetic condition can be inherited.

Finally, the Centre for Genetics Education provides information about different inheritance patterns:

Additional information about inheritance patterns is available from The Merck Manual.

“It is of extreme importance that every person in the CDG community becomes one united voice and takes every conquest in a specific CDG as a victory for the whole community. It is important to keep this in mind because CDG are all connected and a new finding regarding one of them will give tools to improve basic and therapeutic research in the others.” By Vanessa Ferreira, sister to Princess Liliana who lives with CDG.

The therapeutic pipeline of potential treatments for CDG has never been so full of promise!

Secure that you are up to date about basic and therapeutic CDG advances, and join our mailing list:

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For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

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Authors

Vanessa Ferreira and Rita Francisco (CDG & Allies, World CDG organisation and Portuguese Association for CDG), Alice Neves from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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Page modified at Friday, June 24, 2022 - 15:05