Scientists from the University of California, Berkeley and Lawrence Berkeley National Laboratory, along with those of University of Pennsylvania, have demonstrated restoration of visual function in animal models that can help restore sight in blind patients afflicted by diseases such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA).
Retina India is a not-for-profit organization, registered with the Charity Commissioner, Mumbai, India, established for empowering people with retinal disorders, and bringing them and their families on a common platform with physicians, researchers, counselors, low vision and mobility experts and other specialists.
Showing posts with label Leber's. Show all posts
Showing posts with label Leber's. Show all posts
Thursday, December 11, 2014
Thursday, September 25, 2014
Gene therapy for childhood blindness
Genzyme has announced the establishment of a research collaboration with the University of Florida (UF) and the University of Pennsylvania to develop gene therapy for the treatment for Leber congenital amaurosis type 1 (LCA-1), which is usually diagnosed in children who are less than a year old, and patients remain severely visually impaired for the rest of their lives. This disease, which is the most common cause of childhood
blindness, is a group of degenerative diseases of the retina caused by
genetic mutations in one of 19 genes currently associated with the
disorder. These genes encode proteins that play a variety of roles in
the development and function of the retina, and a mutation in any one of
them can cause visual impairment.
Friday, March 22, 2013
Being the person, not the 'blind' person...
"...The accompanist’s rapidly moving hands on the keyboard spark curiosity about the source of the prominent piano line. But curiosity may linger for those that notice he is not using sheet music. The pianist is Shane Dittmar, a freshman music education major, accompanying the Department of Performing Arts’ production “It Gets Better” last October. For more than four hours, Dittmar played an entirely memorized piano part in the back-to-back productions."
from The Pendulum, Elon University's Student News Organization
And for 18 years, Dittmar has been living with a disability. Dittmar is blind. Diagnosed with a genetic disease called Leber Congenital Amaurosis (LCA), Dittmar and his twin brother Derek have been blind since birth. Just like Dittmar had to memorize music measures for “It Gets Better,” he has had to memorize innumerable daily methods in order to adjust to life being blind.
|
Shane has also been trying out musical theatre.
| from The North Raleigh News
With a flash of casting instinct from the mind of a high school theater director, Shane Dittmar has claimed his home on stage - the musical theater stage, that is.
That's not necessarily an unusual thing for a high school sophomore who is a perfect-pitch tenor with a charismatic personality - punctuated by an enviable wit and outstanding student achievement honors.
Difference here: Shane is blind. |
Some of Shane's videos...enjoy his voice, his music and his wit!
Wednesday, November 16, 2011
Success in clinical trial brings researchers closer to cure for blindness
Researchers at Hadassah Hospital in Israel, led by Dr. Eyal Banin, have completed a clinical trial that tested the use of gene therapy to restore sight to patients suffering from Leber's Congenital Amaurosis (LCA). Dana and Yossi, two participants in this study, suffer from Leber's Congenital Amaurosis (LCA), the most severe form of all inherited retinal dystrophies causing congenital blindness. Like others affected, they have experienced severe visual impairment since birth. LCA sufferers experience poor night vision, low visual acuity and a constricted visual field. This low vision continues to deteriorate, leading to total blindness. Other symptoms may include crossed eyes, roving eye movements, unusual sensitivity to light, and/or cataracts. LCA is usually inherited as an autosomal recessive genetic condition. Those with LCA suffer in darkness, without sight and without hope. Until now.
Dr. Eyal Banin, MD, Ph.D., at the Center for Retinal and Macular Degeneration at Hadassah University Medical Center, in collaboration with leading researchers in the United States and Great Britain, performed a clinical trial that has successfully demonstrated the efficacy of gene therapy in the treatment of LCA. LCA is caused by a mutation in the RPE65 gene. In this clinical trial, a normal RPE65 gene was injected into the retina to replace the damaged gene and renew protein production. Participants Dana and Yossi were treated with this gene therapy in just part of the retina of one eye, with dramatic results. Shortly after treatment, both participants noted a substantial improvement in their vision.
When asked about the results of this treatment, Yossi said, "I felt the real change, the real revolution, after 21 days. It was amazing because today I see things that I have never seen before. I'm very proud to be a part of this research." Dana said, "Learning of new treatment was a life-changing event. I'm experiencing a real change. I was surprised to see real improvement in my vision."
Yossi and Dana's self-reporting of visual improvement is corroborated by objective, quantitative measurements of the treated area that also show significant improvement. With the continuation of this research, these scientists will be able to develop gene therapy to treat additional retinal degeneration diseases and make it possible to treat many more patients.
To watch a just-released video with more information about this clinical trial, its researchers and study participants, please visit http://www.mvrf.org/news.php.
Dr. Banin says: "You cannot imagine what an effect this has had not only on the treated patients, their families and on us, but also on the wider population of patients with retinal and macular degenerations here in Israel, who suddenly feel some glimmer of hope.."
Keith A. Lampman, Executive Director of MVRF, says, "We are extremely excited about the results of this study and feel confident that, in close collaboration with our partners across the globe, we are closer than ever to a cure for retinal diseases."
Saturday, November 20, 2010
Stem cell treatment shows promise for Leber's Congenital Amaurosis (LCA) in animal trials
Approximately 200,000 children across the globe (and 12,500 in India) seem to be suffering from a kind of inherited childhood blindness known as Leber Congenital Amaurosis (LCA). It is assumed that light sensitive photoreceptor cells in the retina are forced to die in this disease which further leads to loss of vision. University College London Investigators have introduced a stem cell treatment that may replace diseased parts of the retina. This discovery can possibly promise future treatment for retinal diseases affecting several kids.
Scientists claim to have successfully implanted cells from healthy mice into mice with LCA. The implanted gene is believed to express a gene called Crx, vital for making healthy cone and rod photoreceptors. Having successfully merged with the retina, cells seemingly became new cone photoreceptors. Cone photoreceptors are key components for reading vision and colour vision.
This is the first time that researchers have demonstrated the possibility of transplanting new cone photoreceptors into mature retina. Recent research has shown that embryonic stem cells capable of self-renewal could provide an equivalent source of human cells that express the Crx 'photoreceptor-creating' gene and could be grown in the lab before being transplanted in the retina.
The research highlights that it may be possible to treat a disease such as LCA by photoreceptor cell transplantation via use of stem cells. It may also be possible for treatment intervention at various stages of the disease, which increases the chances of treatment for more number of patients.
LCA has been a disease of focus as one of the only two diseases in medicine that has shown significant improvement with gene therapy treatment. This study demonstrates success for treatment of LCA in animal trials. But more studies will need to be performed, since stem cell derived cells need to demonstrate that they have lost the capability of further division and differentiation. Further investigations are needed to demonstrate possibilities of restoring sight with this newly developed treatment.
Scientists claim to have successfully implanted cells from healthy mice into mice with LCA. The implanted gene is believed to express a gene called Crx, vital for making healthy cone and rod photoreceptors. Having successfully merged with the retina, cells seemingly became new cone photoreceptors. Cone photoreceptors are key components for reading vision and colour vision.
This is the first time that researchers have demonstrated the possibility of transplanting new cone photoreceptors into mature retina. Recent research has shown that embryonic stem cells capable of self-renewal could provide an equivalent source of human cells that express the Crx 'photoreceptor-creating' gene and could be grown in the lab before being transplanted in the retina.
The research highlights that it may be possible to treat a disease such as LCA by photoreceptor cell transplantation via use of stem cells. It may also be possible for treatment intervention at various stages of the disease, which increases the chances of treatment for more number of patients.
LCA has been a disease of focus as one of the only two diseases in medicine that has shown significant improvement with gene therapy treatment. This study demonstrates success for treatment of LCA in animal trials. But more studies will need to be performed, since stem cell derived cells need to demonstrate that they have lost the capability of further division and differentiation. Further investigations are needed to demonstrate possibilities of restoring sight with this newly developed treatment.
Welcome to Retina India
Retina India is a not-for-profit organization, registered with the Charity Commissioner, Mumbai, India, established for empowering people with retinal disorders, and bringing them and their families on a common platform with physicians, researchers, counselors, low vision and mobility experts and other specialists.
Why do we need another not-for-profit organization?
India is home to approximately 24 million blind people, the largest in the world. Additionally, there are another 52 million visually impaired in the country. It is thought that if this trend is allowed to continue, the number of blind people would increase to 31.6 million by 2020.
The blindness-prevention programs that are sponsored by governmental agencies and by non governmental organizations (NGOs) usually focus on "avoidable" or "preventable" blindness that commonly includes cataract and corneal problems. Even though patients with preventable blindness in India are significant, the prevalence of retinal ailments, such as retinitis pigmentosa and allied disorders, macular degeneration, diabetic retinopathy, etc. is gradually increasing. Some of these diseases do not even have a cure at this time, and usually leave the affected people with permanent visual impairment for a lifetime. There has been no singular effort in India to unite the efforts in the fields of medical research, education, rehabilitation and welfare of people with retinal disorders.
It is this void that Retina India aims to fill.
Retina India is focused on spreading awareness amongst society, the NGOs and the Governmental agencies about people with retinal ailments and the specific issues they and their families face. We also wish to help them make a difference to their own lives, and to the lives of people around them.
Our Vision
To empower patients and families of patients with retinal ailments, and help them make a significant contribution to their own lives, and to the lives of people around them.
Our Mission
To increase awareness of retinal diseases and champion the cause of people who get affected by them, and to induce increased research efforts towards treatment for such diseases.
Our people
Simply said, Retina India is a movement, It is a movement that includes all of you. It is our strong belief that when people come together, and work towards a common cause, a lot can get done.
Retina India includes patients with retinal disorders and their families. It also includes retinal specialists and other ophthalmologists with an interest in retinal diseases, low vision experts, mobility experts, counselors, and others. We invite people with a social spirit, who have an inherent desire to do something good for others, and make a difference in someone's life, to volunteer and be a part of this movement. We also invite young adults, school and college students, to gain experience in working on a project for Retina India .
Our Key Objectives:
Patient Alliance: The alliance brings together patients with retinal disorders, along with their families and friends, to work for mutual benefit.
Medical Research and Treatments: Retina India highlights, coordinates and sponsors research in retinal treatment in India, while also informing the patients and their families about the current on-going research in India and around the world.
Clinical trials in India: We act as a channel to bring new treatments and technologies to India (Gene Therapy, Artificial Retina, Stem-Cell treatment, etc.) for Indian patients with retinal disorders.
Patient Registry: Retina India maintains databases (or registries) of patients with specific retinal diseases. Such registries will help inform patients likely to benefit from new treatments, such that they are not left to wonder whether a new treatment is beneficial to them or not, and in the process, spend a lot of time, effort and money in finding that out. Registries for Retinitis Pigmentosa, Macular Degeneration, Retinopathy of Prematurity, Leber's Congenital Amaurosis, etc. are already functional.
Education, Counseling & Advocacy: Activities range from encouraging beneficiaries to pursue their lives productively, counseling them about education, employment, marriage and family issues, to rehabilitation, independence training and mobility skills via associations with other organizations in the country. We are also commited to advocacy about the concerns of people with retinal ailments.
We welcome you to make a difference in your own life, and in the lives of people around you.
Why do we need another not-for-profit organization?
India is home to approximately 24 million blind people, the largest in the world. Additionally, there are another 52 million visually impaired in the country. It is thought that if this trend is allowed to continue, the number of blind people would increase to 31.6 million by 2020.
The blindness-prevention programs that are sponsored by governmental agencies and by non governmental organizations (NGOs) usually focus on "avoidable" or "preventable" blindness that commonly includes cataract and corneal problems. Even though patients with preventable blindness in India are significant, the prevalence of retinal ailments, such as retinitis pigmentosa and allied disorders, macular degeneration, diabetic retinopathy, etc. is gradually increasing. Some of these diseases do not even have a cure at this time, and usually leave the affected people with permanent visual impairment for a lifetime. There has been no singular effort in India to unite the efforts in the fields of medical research, education, rehabilitation and welfare of people with retinal disorders.
It is this void that Retina India aims to fill.
Retina India is focused on spreading awareness amongst society, the NGOs and the Governmental agencies about people with retinal ailments and the specific issues they and their families face. We also wish to help them make a difference to their own lives, and to the lives of people around them.
Our Vision
To empower patients and families of patients with retinal ailments, and help them make a significant contribution to their own lives, and to the lives of people around them.
Our Mission
To increase awareness of retinal diseases and champion the cause of people who get affected by them, and to induce increased research efforts towards treatment for such diseases.
Our people
Simply said, Retina India is a movement, It is a movement that includes all of you. It is our strong belief that when people come together, and work towards a common cause, a lot can get done.
Retina India includes patients with retinal disorders and their families. It also includes retinal specialists and other ophthalmologists with an interest in retinal diseases, low vision experts, mobility experts, counselors, and others. We invite people with a social spirit, who have an inherent desire to do something good for others, and make a difference in someone's life, to volunteer and be a part of this movement. We also invite young adults, school and college students, to gain experience in working on a project for Retina India .
Our Key Objectives:
Patient Alliance: The alliance brings together patients with retinal disorders, along with their families and friends, to work for mutual benefit.
Medical Research and Treatments: Retina India highlights, coordinates and sponsors research in retinal treatment in India, while also informing the patients and their families about the current on-going research in India and around the world.
Clinical trials in India: We act as a channel to bring new treatments and technologies to India (Gene Therapy, Artificial Retina, Stem-Cell treatment, etc.) for Indian patients with retinal disorders.
Patient Registry: Retina India maintains databases (or registries) of patients with specific retinal diseases. Such registries will help inform patients likely to benefit from new treatments, such that they are not left to wonder whether a new treatment is beneficial to them or not, and in the process, spend a lot of time, effort and money in finding that out. Registries for Retinitis Pigmentosa, Macular Degeneration, Retinopathy of Prematurity, Leber's Congenital Amaurosis, etc. are already functional.
Education, Counseling & Advocacy: Activities range from encouraging beneficiaries to pursue their lives productively, counseling them about education, employment, marriage and family issues, to rehabilitation, independence training and mobility skills via associations with other organizations in the country. We are also commited to advocacy about the concerns of people with retinal ailments.
We welcome you to make a difference in your own life, and in the lives of people around you.
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