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Your Gene is Their Business

Dr. Stephen Daiger (standing, left) and Dr. Rose speak with a Foundation member after the session. Most everyone with an inherited retinal degenerative condition eventually asks the questions, “How do I find out what gene is causing my disease, and how can that information help me today?”

During the closing Saturday session on genetic testing at VISIONS 2012, those questions were answered superbly by Dr. Stephen Daiger, one of the world’s top genetic researchers for retinal diseases, and Karmen Trzupek, a genetic counselor who works with patients affected by these conditions. You’d be hard-pressed to find professionals more knowledgeable about this complex research field.

Both speakers were excited to report that the genetic testing process — which can still be challenging for patients, doctors and researchers — has made tremendous strides over the last decade. “The tests we have available today would have seemed like science fiction just 10 years ago,” said Dr. Daiger.

He noted that identifying the disease-causing gene — which can be done in roughly 50 percent of all cases — will confirm the diagnosis and help people better understand how their diseases will affect them, family members and future children. It can also help identify which emerging treatments or clinical trials are appropriate.

He said that it is “really cool” that he is now referring some of his patients to relevant clinical trials as a result of finding their culprit gene. At the same time, Dr. Daiger acknowledged that the process can sometimes be cumbersome, “but we and the Foundation are working hard to improve upon it.”

Navigating the process is where the services of someone like Karmen come in. Armed with a thorough clinical report from a doctor familiar with retinal degenerations, genetic counselors like her can help patients determine: 1) where a blood sample should be sent; 2) the chances of getting a positive result; and 3) what the result means to the individual and the family.

Both Karmen and Dr. Daiger recommended that a patient visit one of the clinical research centers supported by the Foundation, if possible, to get a clinical work-up and genetic counseling. These facilities have highly qualified doctors and counseling professionals. (For information on a center near you, call 1-800-683-5555 during regular business hours and ask for the Foundation’s information and referral department.)

If visiting one of these centers isn’t convenient, Karmen provides telephone- and web-based counseling services through the company InformedDNA. She works with patients and families to determine if testing is appropriate, which clinical center or physician should be seen and where a blood sample can be sent.

For people who were genetically tested several years ago and didn’t get a result, it is important that they follow up with the testing center or the physician who ordered the test. It may be time for their blood sample to be retested or for a new sample to be submitted. In some cases, it may make sense to start the process anew, and contacting Karmen can be a good place to start.

– Dr. Steve Rose

Pictured above: Dr. Stephen Daiger (standing, left) and Dr. Rose speak with a Foundation member after the session. 

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9 Responses to 'Your Gene is Their Business'

  1. jason Bateman says:

    Hi,is this an American based team? Im from Australia and have retinitispigmentosa,if any trials are available im more than willing to participate,thanx j

    • EyeOnTheCure says:

      Hi Jason, thanks for your message. We are based in the US but support worldwide retinal disease research. You can search for all available clinical trials at – You can search by your disease to find what is available. Thanks again

    • Jim says:

      Jason, No trials in Oz, nor anywhere else yet, but a few International companies say they are getting closer. I’m interested in how you get news & whether you have been tested. My son is blind,& waiting results of genetic testing. I find that Oz news is very old & limited, especially for RP. There are exciting things being done in laboratories around the world, with most focus on faults in rhodopsin genes causing autosomal dominant RP. Thats not a big one in Oz, but is in Europe & USA, so more money. Oz is trying to invent a bionic eye system like 2 others already in Germany & USA. Seems a waste really for AU$43M ! Contact me on I’m in Adelaide. Jim.

  2. Jody Tadder says:

    I love to read these presentations from Visions2012 !

    However, you must remember that your audience has a wide variety of visual difficulties…..and this gray print font on white paper is impossible for many.

    Please tell your web person about visual difficulties.

    Wish I could have been there this year in person….

    Jody Tadder, San Diego

    • EyeOnTheCure says:

      Hi Jody, thanks for your feedback. You may have already discovered some of our accessibility features but one that may suit you is located on each page in the top right corner. If you select to view the basic style of the blog from the dropdown list, all text content will appear in black on a white background. Hopefully you are able to take advantage of this feature. Thanks again – and we missed you at VISIONS and hope that next year you can join us in Baltimore!

  3. Our daughter 53, was born with retina blastoma, had her eye removed at age 12 months. We have no history of this kind of cancer on either side.

    Our daughter has a daughter 23, who had Leukemia at age seven (7).

    Jan and Richard Hanson

  4. pl says:

    My perfectly healthy 6.5, 28 year old son, a loving father of a 3 year old son is said to have a form of cone tld dystrophy . Was told this 3months ago ! Any help would be a God send! Thank you and God Bless!

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