Meet Dr. Steve Rose
Steve is highly respected for his expertise and tireless commitment to finding treatments and cures for vision-robbing retinal diseases.
Diving Into the Gene Pool
Each of our genes is like an instruction manual. It tells the body how to make the proteins that carry out a specific function. So when a gene is defective, the instructions for that function are missing. Defective genes are the cause of most of the retinal degenerations the Foundation targets. Over the last 40 years, the Foundation has helped to identify almost 200 of those genes, so, as you can imagine, we’re big on genetic testing; find the defective gene, and you can begin to learn how to treat the retinal degeneration. And because genes are shared by families, genetic histories are a must.
Genetic counselor Karmen Trzupek
With that in mind, one of the general sessions at the Foundation’s upcoming VISIONS 2012 national conference in Minneapolis, Minnesota, will cover both genetic testing and genetic counseling. The two go hand in hand, because those affected by retinal degenerations have tons of questions about testing, and who better to ask than a qualified genetic counselor? The session will feature experts in both areas – Dr. Stephen Daiger, a Foundation-funded researcher specializing in genetics, and Karmen Trzupek, an ophthalmic genetic counselor. In a recent Q&A, in fact, Karmen discussed some of the subjects she’ll touch on.
If you can’t make it to VISIONS, however, FFB’s website offers other resources, including an “About Genetics Testing” booklet explaining the basics and providing valuable resources; and a resource page with links to testing facilities and sources of info outside the Foundation. As always, I encourage anyone affected by a retinal degeneration to consult with his or her eye doctor before looking into genetic testing. And if you’re planning to be at VISIONS in Minneapolis this summer, I’ll see you there!
Hi!
I had one DNA test done last year, it came back inconclusive. Do you think there’s any point in getting another one at another place? I’m still not diagnosed but have some kind of retinal degeneration that causes loss of peripheral vision, they say it’s most likely some kind of RP.
Thanks for this blog!
Thanks for posting Emelie. Our Blog team is putting together a response to your question for you. We’ll post it within the next day or two!
Hi, I’m in the exact same situation. The recent genetic discoveries and clinical trials are all very exciting, but somewhat frustrating when I don’t really know what I have.
I think this topic deserves a full on blog post. Many people, including myself, don’t really know what percentage of RP is known and diagnosable, where the best and most thorough labs are, the associated costs for the level of screening you want, how long it takes, whether the lab will save samples and automatically do more screening as new test become known, etc.
Thanks for what you do!
Thanks for your comments Anthony. We agree that these are important questions to ask and we’ll highly consider discussing them more in the future here.
Emilie, for people who are undergoing genetic testing, re-testing at some point makes sense. Each case is different. I strongly encourage people to work with a genetic counselor to help them through the process, and to help determine when and if re-testing is appropriate. If you don’t have a genetic counselor, contact the National Society of Genetic Counselors, http://www.nsgc.org, to find one in your area.
Thank you! I’m not from the US though, but I will try a find a genetic counselor here in Sweden.
I am 56 and developed magula degeneration and currently am being treated for low vision.
I have heathly eyes and would be open for ant type of clinical trials. How do I get listed and invovled in looking for ways to improve my eye sight?
Tony
Hi Tony, thanks for posting. Listings for all clinical trials in the US are listed at http://www.ClinicalTrials.gov. You are able to search according to your disease and the results will show you each trial being conducted around the disease as well as its status and contact information.
I’ll pass along your contact information to a coworker who manages our patient list. She will reach out to you on being included in updates on trials. Thanks again!
Hi. I thought the first genes confirmed to cause rp were the rhodopsin gene mutations found by Dryja and Berson in the 1990s. What genes were discovered 40 years ago?
Hi Carol, We are putting together an answer to your question and will get back to you shortly. Thanks for posting!
You are in fact correct. In 1990, rhodopsin was reported as the first gene to be linked to retinitis pigmentosa. But the search for genetic causes began long before that. From the beginning, we knew that RP ran in families and that a genetic cause or factor was likely. It just took a long time before we actually found the first one. While finding these retinal disease genes is still challenging, advancing technologies is making it easier every year. And as I mentioned in the post, we’ve found more than 200 thus far.
Hi there – both my boys (ages 17 & 15) have cone-rod dystrophy. Can gene therapy help in that area?
Gene therapy for cone-rod dystrophy might be an approach for your sons at some point. Identifying the disease-causing gene is an important first step in determining what treatments might work for them. I would suggest that you explore genetic testing for them – there is some information on our Web site to get you started (http://www.blindness.org/genetic-testing) – and I strongly suggest you work with a genetic counselor to help guide you through the process.
Beth, my grandson, age 7, also has cone-rod dystrophy. You are the only other person I have seen who knows someone w/this same disease. I’m told it’s a rare defect. Are you aware if there is some sort of support group for the families affected by this disease?
Beth, I encourage you to look into our network of local chapters. Many of them do provide support and resources for those living with retinal diseases and their families. Depending on your area, you can find your chapter here: http://goo.gl/hJqO1
Hi, We live in Asia. My monther has Retinitis Pigmentosa and will like to come to U.S and do some genetic testing. Is there any chance of treatment after DNA testing for my mother.
I think it is great that your mother is getting genetically tested. That may help determine what emerging treatment(s) may be right for her. At this point, there are some options in, or moving into, clinical trials, such as valproic acid for autosomal dominant RP, and more on the way.
Also, Dr. Eliot Berson has reported that vitamin A and DHA (from oily fish) can slow the progress of RP (a broad spectrum of forms). You may want to talk to your mom’s eye doctor about this option.
Hi , i have 2 doughters with low vision becuse of gene , both cann’t see in lighting place
My quistion where is the best lab to make DNA gean idintification to know gean difective name..
Thanks ..
My e-mail: abu_leen@live.com
Hi Leen, thanks for posting. On our Foundations website, we have a few resources to help you get informed about the genetic testing process and some resources to help you get started. Please make use of them as much as you would like. (http://www.blindness.org/genetic-testing)
My grandson age 12 has R.O.P. . Blind in left eye from laser at 4 mts old . laser was done on both eyes . His right eye has low vision and has cataract in both eyes . Most concerned with right eye that he sees with . We just found this out in July 2011 . He also has calcium deposits on his good eye ( right ) . Drs at Jonhs Hopkins , say surgery is too risky on his only eye . He sees 20/40 with glasses. He is wearing a -1400 rx . His only eye is getting worst . Was doing good on the visit 1 year before 20/20 only cataract in bad eye None in right eye was . wearing a -1200 rx . . I am hoping to find any place to go with this .I need information .Can anyone help me ……..Thank You My email address is connieparrish54@yahoo.com
The comment I made above may not be in the right place I am not asking about the Gene testing .Referring to any thing or any information for trying to prevent blindness. If anyone knows anything please let me know Thank you Connie Parrish . my email address connieparrish54@yahoo.com
Hi Connie, thanks you for posting. While ROP is not a focus of the Foundation Fighting Blindness, I would like to provide you with some resources on where you may be able to find out more. There are some helpful links here off the site of the National Eye Institute: http://www.nei.nih.gov/health/resourceSearch.asp?Disp=1&strKey=Retinopathy+of+Prematurity
Recently my genetic test from the Carver Lab University of Iowa revealed that I have the defective MAK gene which caused my RP. I had this info added into the FFB database. What is next?
Researchers at the University of Iowa are now conducting studies (learn more: http://goo.gl/4dT3S) to understand why defects in the MAK gene cause RP. The knowledge they are gaining from these studies is already helping them identify potential targets treatments and cures. Stay tuned. We will report on their progress as soon as they report it to us.