Science Buddies: "Ask an Expert"

Hi,

i am doing my science fair project on the Urbach-Wiethe disease. I was wondering if there is any type of experiment that I can do related to my subject.

Thank you.

This is a very rare disease and very open-ended question. Since you most likely won't have access to human patients, what type of experiments were you planning on doing? Molecular, epidemiological, historical family tracing?

I am only in secodnary 5, and I doubt that I can have access to equipement do any molecular experiment. And what do you mean by epidemiological experiment or historical family tracing? How would I go through with that?

What types of experiments do you want to do? This is an extremely rare disease - with only a few hundred reported cases. Knowing that, what types of experiments can you think of if you can't do anything molecular? What do you know about the disease and what kind of questions can you ask about it? Why did you choose this disease in the first place? Family tracing involves finding a family with the disease and making a family tree and recording which members, alive and deceased, that been diagnosed (or if not officially diagnosed, show/ed symptoms of the disease), but that wouldn't be an entire project. Epidemiological means finding commonality between affected individuals.

Hi,

This is a fascinating topic. StephGreene has given you some good suggestions, and here are some more ideas for a project on this subject:

1. Since there have only been 300 cases of this disease reported since its discovery, you can try and do a literature search to identify researchers who would be open to doing a case study. To get started on a project like this, you would need to do a literature search and identify researchers who are working on this disease. If given permission, then you can have access to family history to try and identify the proband and family members who may have the disease. If there is enough data available, you could then make a linkage map. That would make an excellent and very unique project.

I have uploaded an example of a recent article that includes the primary author’s e-mail address. You would need to write an e-mail message and explain your objective, and hopefully receive a reply.

2. Another possibility would be to do a literature search on all of the patients with known mutations in the EMC-1 gene and look for a correlation between the severity of the disease with a specific mutation. This type of project would not require any lab work, but would be worthwhile, and I don’t believe it has been done.

3. If neither of these projects is feasible, you could select one of the following projects on the science buddies website that is related to your project. Doing one of these projects would give you a good background and help you learn specific techniques for continuing with the Urbach-Wiethe disease project sometime in the future.

https://www.sciencebuddies.org/science- ... p001.shtml

https://www.sciencebuddies.org/science- ... p028.shtml

https://www.sciencebuddies.org/science- ... p009.shtml

https://www.sciencebuddies.org/science- ... p017.shtml

https://www.sciencebuddies.org/science- ... p013.shtml

https://www.sciencebuddies.org/science- ... p015.shtml

https://www.sciencebuddies.org/science- ... ?from=Home

Donna Hardy

thank you!