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• gene therapy news
• Posted: 2008-04-27 17:26:32 By julia b
• http://news.bbc.co.uk/1/hi/health/7369740.stm
  just to forward what is being said about it over here,
  Julia.B

• Re: gene therapy news
• Posted: 2008-04-27 18:47:14 By Nikki s
• i see the trial are going on in philadelphia, but the age only goes up to 26. Now i am wondering if this treatment if and when available will obly be offered to young adults and not to those in their 30's and up??

• Re: gene therapy news
• Posted: 2008-04-27 19:04:48 By Michael Z
• I am very happy for those with LCA - has anyone heard any gene tharepy with those with the recessive form of RP. The last convention I attended, hardly ane genes were identifgied for the recessive form.

• Re: Re: gene therapy news
• Posted: 2008-04-27 19:38:26 By Carol C
• Michael, are you asking because you have recessive RP? Has the mutation been identified? I ask because I have read that experts are finding that many males with RP, especially more than one brother with RP that appear to be the only ones in the family, actually have X-linked RP. My brother would have been diagnosed recessive, if we didn't happen to know a lot of 3rd and 4th cousins with this. It came to him from our mother's mother's mother's mother's mother, with no other effected amles all the way down since a g-g-uncle. Since we knew it was X-linked, a genetic clinic helped us locate our mutation. A large number of mutations are showing up on the RPGR gene, in the ORF15 section, and sure enough, it only took 3 months to find his mutation there. You could have yours examined as well.It cost $350 plus the cost of the genetic clinic visit.The wonderful part of this is if you have sisters/ female relatives that are at risk of being carriers, they can have the test as well and know for sure. Of course, you run the risk of wasting the money if yours doesn't happen to be there, but if it is X-linked, there is a good chance it is. Knowing the exact mutation could benefit you re: particiption in future research, or in keeping up with the incredible knowledge gained every year- maybe they will learn why particular mutations have this effect, and how to stop it! You can search for "RPGR, ORF15", and read a lot about this. My brother is in the CNTF implant study, and experiencing a lot of vision improvement, but not everyone is. Maybe this is due to his particular mutation. Carol

• Re: Re: Re: gene therapy news
• Posted: 2008-04-27 20:23:20 By Michael Z
• Hi Carol-
  Im the only one with RP in my family. I am 33 and have an older brother. My parents , cousins, and generations of family as far back as we can go never had RP. My doctors all thought it was recessive. Diagnosed in 83 in right eye, only have light perception. Diagnosed in 98 in left eye, have no peripheral or night vision with 20/40 best corrected vision
  Wouldn't X-linked have beeen more of a severe case at an earlier age?

• Re: Re: Re: Re: gene therapy news
• Posted: 2008-04-27 21:24:44 By Carol C
• Michael, is the vision in your eyes really as different as it sounded to me ( only light perception in one eye, and 20/40 acuity in the other?) I've never heard of RP being so different in each eye, although one eye can be a little better than the other. Anyway, only light perception at 33 Is severe. My brother is considered late stage ( diagnosed age 34, having lost 75% vision by this time). We were shocked at his diagnosis, he was so functional. He had only about 10 degrees central vision, best corrected vision 20/80, with some islands of clear vision around the periphery. He has cone-rod dystrophy "inverse RP", where central vision and acuity are the first symptoms, with night vision problems developing later with progression. Yet, at least 2 relatives with the same mutation have typical RP symptoms. I have a relative, 58, only light perception, and his brother, 63, no vision at all. Carol

• Re: Re: Re: Re: gene therapy news
• Posted: 2008-04-28 10:29:03 By Darran Z
• Michael,
  
  Just chiming in here. There are over 100 genes responsible for RP and they are finding new mutations of both recessive and dominant forms.
  
  What Carol was talking about, there are two places where you can test for X-linked and Dominant form of RP. Although, they do not test all dominant or X-linked, I beleive they only test the common or most frequent form found.
  
  However, if you know where to go, you can test for all forms of RP and this is generally done by research. My ophthalmologist's colleague at the Moran Eye Center does this, for free. I know the NEI also does this as well. So testing is available. Both of the places I mentioned are FFB funded sites for genetic testing.
  
  Darran

• Re: Re: Re: Re: Re: gene therapy news
• Posted: 2008-04-30 15:05:48 By Carol C
• Darren, is it true, though, that you can't get your results when it's done through research? That's what happened for us- Paul had his blood drawn more than 2 years, and the research testing hadn't been done yet. It was only when we pushed for clinical testing, which we had to pay for, that we were able to actually get the results. Research results are also not available to family memebers to use for their testing, all because of privacy concerns, I think. You have a chance of your insurance covering clinical testing as well. Maybe things are changing, but I think research "free" testing is still dependent on often not-available funding, or having the available grad students to do the work. Carol

• Re: Re: Re: Re: Re: Re: gene therapy news
• Posted: 2008-04-30 15:25:06 By Darran Z
• Carol, It depends on the research. Not all of them will disclose findings but many do. For example, I submitted blood 21 years ago to Boystown to research on my Usher gene mutation, but to this date, none has been isolated. I submitted blood to my ophthalmologist who is doing RP testing and I wanted to test against RP only, and that project was closed and would not disclose findings. But Boystown does once they isolate it. So does. Dr. Heidi Rehm at Harvard. The NEI does alot of DNA analysis and often will tell you. So it depends.
  
  Darran

• Re: Re: Re: Re: Re: gene therapy news
• Posted: 2008-05-05 20:23:51 By Natalie C
• Darran,
  If you have an inside contact for someone at Moran, please let me know who and how to reach them. My mom and I both sent in blood in Dec. 2006 for 'testing' as part of a research project by Dr. Khang Zang and never received word back even though they said we would. I tried to follow up several times, but the research assistant never called back and I finally gave up. You can use my personal email if you'd like...I think you still have it. Thanks.
  Natalie C.

• Re: Re: Re: Re: Re: Re: gene therapy news
• Posted: 2008-05-06 18:41:53 By Darran Z
• I sent you an e-mail last night. Did you get it? If not, send me one and I'll respond.
  
  Darran

• Re: gene therapy news
• Posted: 2008-04-28 10:07:54 By Kent H
• Anyone that can tune in NPR, they are broadcasting a story about the success in Britain.