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What Exactly Is Gene Therapy?

Gene therapy is one of the most promising areas of research in the drive to save and restore vision for people with inherited retinal diseases. Thanks to years of critical Foundation funding, gene therapies in clinical trials are restoring vision in children and young adults with Leber congenital amaurosis, and about a dozen gene therapy clinical trials have been launched recently for a variety of conditions, including Stargardt disease, Usher syndrome, choroideremia, retinitis pigmentosa, and age-related macular degeneration.

Admittedly, gene therapy can be a difficult concept to wrap one’s head around. It was for me when I was first introduced to it. So, what exactly is gene therapy, and how does it work?

What follows is a two-part answer. The first part is a basic description of gene therapy, the second a video clip of William Hauswirth, Ph.D., a Foundation-funded researcher at the University Florida. He is also one of the world’s most prolific developers of gene delivery systems for retinal conditions and a recent recipient of the Foundation’s most prestigious research honor, the Llura Liggett Gund Award.

Part 1: Basic Description of Gene Therapy

Virtually every cell in our bodies carries a complete set of an estimated 20,000 genes. Genes are like our body’s instruction manual. They instruct our cells which proteins to make. These proteins are essential to the health and functioning of all cells.

Most inherited retinal degenerative diseases are caused by a small variation, or mutation, in a single gene. These variations are like misspellings in our instruction manual. Even a minor one can cause the wrong protein or amount of protein to be made. That can lead to serious consequences, like degeneration of the retinal cells that enable us to see.

Scientists are developing gene therapies to deliver copies of new, corrective genes, without the misspellings, to the cells in our retina, enabling them to make the right proteins, and stay healthy and function properly. Specially designed viruses are commonly used to deliver the corrective gene copies to the cells. The viruses are said to “transfect” — or penetrate — the cells with their therapeutic genetic cargo.

Gene therapy is administered by injecting a tiny drop of liquid — which contains the virus and new gene copies — underneath or near the retina. The solution is absorbed into the retina over a period of hours.

The elegance of gene therapy is that one treatment can potentially be effective for several years or perhaps a lifetime.

What’s just been described is known as replacement or corrective gene therapy. Gene therapies are also being developed to preserve retinal cells, independent of the underlying genetic defect causing disease. In addition, optogenetic therapies can bring light sensitivity (i.e., visual function) to retinal cells that are normally not light sensitive, but survive in advanced retinal diseases

Part 2: Gene Therapy Explained by Dr. Hauswirth


44 Responses to 'What Exactly Is Gene Therapy?'

  1. Dipeesh says:

    Sir keep up this research

  2. patricia oliveri says:

    i have startgardes and am wondering if your can treat it ??

    • EyeOnTheCure says:

      Patricia, thanks for your comment.

      We would like to point you to a few places on our website that will provide some useful information on Stargardt Disease. Be sure to visit our section on this disease:
      http://www.blindness.org/index.php?option=com_content&view=article&id=53&Itemid=74

      There is a section on this page that discusses research advancements. While there is no cure for RP, much research is being done.

      We often report on new research advancements and so we encourage you to check out our Stargardts news articles information for the latest.
      http://www.blindness.org/index.php?option=com_content&view=category&id=66&Itemid=122

      You may also be interested in being a volunteer for a clinical trial study?

      If so, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  3. Gale W. Wallace says:

    I have know since I was in my 30’s that I had RP. I lead a productive life and retired for Lucent after 35 years. However, I am currently 67 years old and abou 10 years ago I decided not to drive anymore due to my condition. My left eye has always been worse and I could not see much out of it for as long as I can remember. My right eye would be corrected with glasses to about 20-50, I started wearing glasses when I was in the 2nd grad.
    Well, when I read this article, I was amazed. Who can be a part of the trial? How would I go about looking into this. I still function, but more and more it is becoming more difficult. Any help or direction you might give would be appreciated.
    Thank you,
    Gale W. Wallace
    324 Canton St
    Alpharetta, Ga. 3009

    • EyeOnTheCure says:

      Gale, thanks for your comment and for sharing your story with us.

      While gene therapy is a very promising are of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates. We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  4. Jay says:

    I’d be interested to know the source of the corrective genes.

    • jblasco says:

      Hi Jay,

      Virtually every cell in the body has a complete set of DNA, so it is very easy to get human DNA from a small biological tissue or blood sample. It is also easy for researchers to replicate or clone the DNA strand, so that they have multiple copies for a gene therapy. The DNA is then inserted into a virus or other delivery system to get the DNA into the cells of the recipient.

  5. Shubha Silwal says:

    Hi, I am 23 years old (Male) from Asia,(Nepal). I have been diagnosed to have RP at the age of 9. Since childhood i have very poor night vision and at present i am night blindness. At good light condition my vision is okay. Here at Nepal we don’t have proper diagnosis and support for RP. Most of them don’t even have a slightest idea what RP is. So i want to know, Can i hope that i may be cured at near future? Because Gene therapy seems to be promising. Where can i have this treatment and how much does it cost? It seems to be silly question but i just want to get rid of this disease so badly.
    Thankyou !!!

    • EyeOnTheCure says:

      Shubha, thanks for your comment and for sharing your story with us.

      While gene therapy is a very promising are of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates.

      We would like to point you to a few places on our website that will provide some useful information on RP. Be sure to visit our section on this disease:

      http://www.blindness.org/index.php?option=com_content&view=article&id=50&Itemid=67

      There is a section on this page that discusses research advancements. While there is no cure for RP, much research is being done to find treatments and cures.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  6. Janice Musco says:

    I would like to have gene therapy test
    I am 63 year old. I wears hearing aids dont know what type of ushers also my brother have it too! But found out my father diagnosis 87 still living not sure he is carried few week ago he have macular MG generation but how could be? old ages. Do you know where I could have it done. I have medicare and medicaid want have it fdone also my father too thank you for my help

    • EyeOnTheCure says:

      Janice, thanks for your comment and for sharing your story with us.

      While gene therapy is a very promising are of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates. We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  7. Janice Musco says:

    My fad also have diabetic by pills

  8. Cassie says:

    Is this 100% safe? Any side effects to this?

    • EyeOnTheCure says:

      Cassie, thanks for your comment. Gene therapy as a potential treatment is still in the clinical trial phase, meaning that aspects like safety and possible side affects, as they pertain to human patients, are not yet know. These are some of the things our researchers hope to uncover, and we ask you to please stay tuned as the research progresses.

  9. adeel says:

    i am patient of r.p

  10. Bia Bell says:

    my son is 22 years old with Stargardt, is the gene theraphy will benefit him? if so where and when the treatments will be done, and how can we apply for that.
    thanks so much.
    Bia Bell

    • EyeOnTheCure says:

      Bia, thanks for your comment and for sharing your story with us.

      While gene therapy is a very promising are of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates.

      If you are interested in other clinical trials, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for Stargardt clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  11. melissa panek says:

    “Gene therapies are also being developed to preserve retinal cells, independent of the underlying genetic defect causing disease.” so does this mean there is treatment now that could stop the progression of retinal degeneration like in r.p.? if so, how do i get that for my children?

    • EyeOnTheCure says:

      Melissa, thanks for your comment and for sharing your story with us.

      While gene therapy is a very promising area of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates. We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  12. Philip Dwyer says:

    Our daughter in law has Stargarts and we want to learn as much as possible.
    We love her like our own daughters and pray daily for a cure.

  13. I ask God to direct your hands to find a cure for all and not just for our 43 year old son Scot. He is a father of two young children, and his desire is to be able to throw a baseball to his son and walk his daughter down the isle one day and be able to see her, at her wedding. He has sworn to never accept any kind of
    cure which might involve the destruction of an aborted
    human being. Gods blessings on all of you for your dedicated work.

  14. rdeis says:

    > Are there side effects?

    Targeted and performed correctly, no, but its very tricky business.

    A “bad” virus, like flu or something, replaces genetic coding in its target in order to kill the target and reproduce itself.

    The objective here is to create a “good” virus that uses the same sorts of mechanisms, but replaces *only* defective genes, with *corrected* ones. Keeping the virus under control so it only does what the doc wants it to do isn’t easy, nor is keeping the immune system from going after the virus and preventing its work.

    Fortunately, the eye is a relatively isolated part of the body and that helps with both.

    I remember when they announced the results of the first LCA trials with dogs several years ago. Getting this research mature enough to be used in regular treatment is really, really exciting!

  15. Jane Diaz says:

    I have Age related MD. I am 69 years old. I was diagnosed five years ago with no apparent change in the progress of the disease. At my age, am i too old for this gene therapy to be something that i may be able to take advantage of? I hope so, as my mom was blind before she died at 91 and i had two sisters with juvenile MD who are both blind. thank you so much. Jane Diaz

    • EyeOnTheCure says:

      Jane, thanks for your comment.

      While gene therapy is a very promising area of research, it has not yet moved into human clinical trials, the point at which it will be tested on humans as a treatment. If it does move into clinical trials, the safety and efficacy of gene therapy as a treatment will be determined.

      We encourage you to stay tuned to this research as time goes on. Definitely check back here on the blog and on our main news website at http://www.fightblindness.org for updates. We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  16. habib says:

    hello..my little boy aged 11 months…he have LCA…..what can he see….? can he see something or no? how can i know??plz is there any treatement or any hope..tx..

    • jblasco says:

      Hi Habib,

      A retinal specialist familiar with inherited retinal diseases can perform tests to determine what vision your child has. LCA is normally a severe disease, so he likely has severe vision loss. If you live in the U.S. or Europe, we can help put you in touch with the appropriate physician. We might be able to help if you find a doctor if you are outside of these countries, depending on where you live and where you can travel to. E-mail info@fightblindness.org for more information.

      Yes, there are treatments, including gene therapy, that are being developed for LCA. There is hope. Genetic testing will help determine which emerging treatments are best for your son. A doctor familiar with retinal diseases can order those tests.

  17. Farris Muhammad says:

    Do you all need people for trials or are you finished with trials? I know someone who like to participate in trials.

    Where can someone be screened for treatment?

    • EyeOnTheCure says:

      Farris, we would recommend that your friend visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for clinical trials by searching based on your condition. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  18. Sara says:

    My 23 month old daughter was diagnosed with bilateral retinal detachments at 6 weeks old, she is legally blind, she did have vitrectomy procedures like 3 times, does not seem to be successful, would gene therapy be helpful for her condition?, she did have genetic testing done to explain why she had bilateral retinal detachment, they all came negative.

    • jblasco says:

      Hi Sara,

      It is not clear from your description if your daughter has a genetic disease, though it does sound like your doctor suspected her condition might be genetic. That is why he/she ordered genetic testing. To benefit from corrective gene therapy, you have to know what gene is linked to her disease. We strongly encourage you to talk to your doctor, and a genetic counselor, if possible, to see if additional genetic testing is warranted.

      There are some emerging gene therapies that work independent from the disease-causing gene. These therapies are designed to slow degeneration and keep the retina healthy. They are still in development, so they aren’t available yet, but our researchers are working diligently to move them into clinical trials.

  19. Carolyn L Walchlw says:

    I’m 79 basically healthy except RP with 5% sight left. Can read- type watch TV and its getting difficult especially night vision. My husband is healthy 80 and still drives hunts fishes. Willing to travel anywhere to get some help help.
    to get a trial gene therapy to not lose any more vision.
    Any suggestions or comments would be appreciated. It appears they are very close. I was on the John Hopkins research in Baltimore for years and have contributed to the RP Foundation for a long time .Dave and Carolyn Walchle
    9042852880 or dandcwalchle@gmail.com

    • jblasco says:

      Hi Carolyn, thanks for your comment.

      We would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for RP clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  20. Marla Mayer says:

    My 39 year old son has RP. He believes it is from a gene mutation. How can he find out which gene and if there is a treatment? He was seen at Iowa State Univ. by Dr. Edwin Stone but he has heard no more in two years. He wants a clinical trial if possible. We live in Florida. Is the University offering clinical trials? Thank you.

    • Eye on the Cure says:

      Hi Marla, we would recommend that you visit http://www.ClinicalTrials.gov. We fund many clinical trials but do not operate the studies ourselves and so reaching out them directly may be the best way for you to find out more about where they are happening and if participating is an option.

      On http://www.ClinicalTrials.gov, which is maintained by the National Health Institute, you are able to search for RP clinical trials by searching based on your disease. Each clinical trial listing will tell you more about what the study is about and how you can contact them to see if they are recruiting and what the participant criteria may be.

      We hope this information is helpful and encourage you to contact us for additional help at info@fightblindness.org for further information if needed.

  21. Siva prasad says:

    Many thanks for the commitment and dedication for the persons involved in this innovative treatment, i am from india fighting with rp, i am hoping to see smiles in people who are sufferring. I pray god that this trails must be successful and to give strength to research persons.

  22. shabir says:

    dear sir
    my father 65 and brother 35 are suffring from RP (night blindness) plz suggest me any treatment
    shabir
    shabiretv@gmail.com
    919419016389

  23. Remya Satender says:

    My husband is 26 years old and he has been visually impaired person. He had got visually impaired due to wrong injection given to him for pneumonia while he was a child. I would like to know if this treatment would be applicable/ beneficial for him, if so where is it available.
    Thank you.

  24. I have RP have known I had the disease since my early twenties now I am 63 years old. I have very limited vision but am blessed that the vision I do have is stable at this time. I have always believed their was hope for me.I just recently found out that I also have Ushers Syndrome 2A also. Thank you for your research.

  25. Steve S says:

    Does this gene therapy help with partial blindness do to a stroke in the eye? Back in June 2012, I had both a stroke in the eye and lymes disease stage 2 and since then, I have no vision in the complete lower portion of my eye and no left perifial. Can this be fixed?

    • Dr. Tim Schoen says:

      Dear Steve, I don’t think that gene therapy will be able to help restore the vision that you lost due to a stroke. A stroke is when poor blood flow results in cell death. In your case, the stroke resulted in a loss of blood flow to your retina which resulted in the death of retinal cells and subsequent loss of vision. The ganglion cells and other retinal cells are part of the brain and they do not regenerate when they die. I am not sure how Lyme disease affected your retina but it is possible that the bacteria invaded your retina and caused inflammation that may have resulted in retinal cell death. Currently, I am not aware of technology that could help restore partial loss of vision. It is possible that in the future, scientists will be able to restore lost of partial vision using stem cells. Although not yet in human clinical trials, a stem cell researcher you might want to keep tabs on is Dr. David Gamm, at the University of Wisconsin-Madison. Here is a link to a video interview with Dr. Gamm:
      https://www.youtube.com/watch?v=3LK62FC8Flg
      Also, here is a weblink to an FFB article on Dr. Gamm:
      http://www.blindness.org/foundation-news/researchers-move-closer-developing-transplantable-retinal-tissue-stem-cells

Trackbacks/Pingbacks
  1. The Irish biopharmaceutical company Genable is on course to launch the first gene therapy clinical trial for people with an autosomal dominant retinal disease.

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