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Sarcoidosis

Genetic testing for patients with sarcoidosis

05/04/2009

Question:

I am a 51 year old male and have been diagnosed with this dreaded disease by biopsy several times over the many years(20+)I have had this. It continues to affect more parts of my body and I am at my limit with these problems. My quality of life is being degraded to where I can`t stand it anymore. I need to do everything possible to find any and all avenues to address this problem. My brother has also been diagnosed with this condition via biopsy as well.

My question is there any studies that are starting to look into genetic makeup or dna sequencing of patients with this disease? This could lead to better understanding or bring to light genetic defects or commonalities that exist.

If there are no current studies available to participate in, where could someone go to have their DNA sequenced without having to pay an astronomical fee? Science will have the answer, we just have to turn over all the stones.... Sincerely Desperate!

Answer:

Dear Sir- As you suggest, we currently lack sufficient information to understand who will develop sarcoidosis, how to individualize treatment for each person, and what therapies might work more effectively.

I also agree that genetics provides the best chance to advance our understanding of sarcoidosis. However, individual testing is unlikely to produce any helpful information. We first have to describe the genetic characteristics of those with severe forms of sarcoidosis (compared to those who have less severe disease or no disease at all) and try to better understand why some people have progression of disease despite the available treatments. Hopefully, such studies will provide insights into the cause of the disease and will lead to new and more effective treatments.

At some point in the future we may be able to screen you for specific genetic characteristics that would allow us to select the most effective therapy, but we are not there yet.

For more information:

Go to the Sarcoidosis health topic, where you can:

Response by:

Elliott D Crouser, MD Elliott D Crouser, MD
Associate Professor of Pulmonary, Allergy, Critical Care & Sleep Medicine
College of Medicine
The Ohio State University