My Research Proposal
Read my mock research proposal, Deciphering the Role of Frataxin. It was written to partially fulfill the first qualifying exam of my PhD program. In it I propose experiments that could help identify a function for frataxin, the protein known to cause the devastating effects of the disease, give background info, and discuss specific experimental methods.

Friedreich's ataxia links
Muscular Dystrophy Association of Australia--Friedreich's Ataxia
Describes many features of the disease. Correction note: lab tests to detect carriers are available as the exact genetic cause of the disease is now known.

International Network of Ataxia Friends
Find out more about the disease, the latest research announcements, and support information.

Note: National Ataxia Foundation links have been buggy lately!

National Ataxia Foundation--Genetic research uncovers gene that causes Friedreich's ataxia.
Tells about the discovery of the gene involved in Friedreich's ataxia.

National Ataxia Foundation--Friedreich's ataxia: frataxin and iron accumulation in the mitochondria.
This article gives a clear and understandable explanation about the role iron may play in the disease.

National Institutes of Health News Release
June 12, 1997--Gives some background information on Friedreich's ataxia, and it describes briefly the hypothesis that iron build-up may actually cause the symptoms seen in the disease.

Shawn's Zinedom
Excellent description of the disease.

Current Friedreich's Ataxia Research
While my project is now over, I still have an ongoing interest in current research. Since my PhD research is also in human genetics, I occasionally get to attend scientific conferences and see some of the research in progress in addition to reading scientific journals. So, what is happening now?

• Mouse models
  Although some people object to the use of animals in research, for a disease like Friedreich's Ataxia, it can really help scientists and doctors understand the disease and hopefully treat it. Researchers are in the stages of making a mouse with a defective form of the frataxin gene. If they are successful, I would expect to hear more about it later this year (2000).

• Treatment Research
  I noticed someone asked about current treatment in my guestbook. Unfortunately, so little is known about exactly how frataxin functions that there really is no good treatment. Doctors currently treat the resulting problems rather than the underlying cause. Some have suggested trying iron chelation therapy, but at this time and point, most doctors are not recommending this because there could be adverse effects (no one wants to make anyone with the disease even worse). It does seem that cells die as a result of oxidative damage that could result from a toxic buildup of iron. I have to stress could; there could be more involved that we don't know about yet.
  
  Since supplementation was brought up in the guestbook comment, I thought I would add my thoughts. I must preface my comments with the fact that I am not an MD, and I don't even have my PhD yet. However, If I had Friedreich's Ataxia, I would really try to have a healthy diet. I would not go crazy taking all kinds of supplements, but I might take a supplement that provided anti-oxidants. I definitely would not want to have a high level of iron intake, but I would not try to be extreme about lowering iron intake because without iron I'd be anemic. I would also try to eat vegetables that provide many of the anti-oxidants naturally. Other than that, until more is know about the function of frataxin, I'd just wait and hope.

  
  
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