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Keratoconus Research and Genetic Factors

The research group at Cedars-Sinai has contributed significantly to the understanding and treatment of keratoconus; the group’s achievements include:

  • Developed a computer software to early detect keratoconus
  • Identified the first molecular defect in keratoconus
  • The first group to publish and demonstrate that inserting INTACS with the Intralase laser is safer and more accurate than the mechanical technique
  • The first group in Los Angeles to offer the Intralase laser for corneal transplants in patients with keratoconus

The research group at Cedars-Sinai was also the first group to present scientific evidence supporting the role of genetic factors in the development of keratoconus. These findings suggest that in order to develop a medical cure, genes contributing to the development of keratoconus will have to be identified and either replaced or suppressed. 

The Keratoconus Genetics Research Program at Cedars-Sinai is such a program. Our scientists are trying to develop a medical cure for keratoconus. The program is conducted by Yaron S. Rabinowitz, MD, Principle Investigator, Cornea Specialist and Opthalmic Geneticist. There are more ongoing clinical trials being conducted at Cedars-Sinai for the treatment and understanding of keratoconus than anywhere else in the world, including clinical trials related to:

  • The early treatment of keratoconus with INTACS and the Intralase laser
  • Identifying genes in families with keratoconus
  • PRK(photorefractive keratectomy) for keratoconus
  • Treatment of mild to moderate keratoconus with INTACS and the Intralase laser
  • Treatment of keratoconus with implantable contact lenses
  • Lamellar transplants in the treatment of keratoconus
  • Developing a molecular genetic test to diagnose keratoconus
  • Videokeratography indices for detecting early keratoconus

We are extremely optimistic that this research will ultimately lead to improved treatments and an eventual cure for keratoconus. Support from the public and private donor funding is needed to continue these ongoing research efforts. If you are interested in participating or would like to learn more about how you can become involved, please contact Jacquie Navratil at: jnavratil@eyedefectsresearch.org

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Eye Birth Defects Research

Triana Cotera, was born with sclero cornea, a rare genetic disease that clouds the corneas of both eyes, resulting in permanent blindness. Triana had several surgeries at a major university, which resulted in the loss of one of her eyes. When her mother consulted Dr. Rabinowitz at the Foundation about the possibility of surgery on her remaining eye, he suggested that since the eye was functional and Triana could distinguish between light and dark, they should wait for further research advances in order to ensure that a cornea transplant would succeed. Doctors at the Foundation are conducting state-of-the-art research for children like Triana, in order to provide a surface for a cornea transplant that will succeed.

Megan Bolton, was born with Fraser’s syndrome. Both of her eyelids were fused closed, although the eyes under the lids had some function. In a complex surgery, Dr. Rabinowitz and his associates separated the lids from the corneas so her eyes would look normal. However, it is impossible to do a cornea transplant at this time because her tissue would reject the new corneas. With your support of our research we hope Megan will one day be able to receive cornea transplants.

HOW OUR RESEARCHERS WILL TRY TO SOLVE EYE BIRTH DEFECTS IN CHILDREN

With your support, researchers at The Eye Defects Research Foundation hope to someday restore sight to Triana and Megan, and to the many other children awaiting cornea transplants. Our research goals include:

  • Fully equip and staff two molecular genetics laboratories dedicated to combating blinding eye disease in children
  • Creation of an endowment to purchase equipment and support the researchers
  • Establish a Clinical Eye Research Center

We are extremely optimistic that this research will ultimately lead to improving and restoring sight caused by these diseases. Support from the public and private donor funding is needed to continue these ongoing research efforts. To learn more about how you can become involved in curing eye birth defects, please email Jacquie Navratil at: jnavratil@eyedefectsresearch.org

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Macular Degeneration Research

CEDARS-SINAI'S STEM CELL AND GENETIC THERAPY RESEARCH PROGRAM
International Conference - October 1, 2007

The Eye Defects Research Foundation, in collaboration with the Cedars-Sinai Stem Cell Institute, organized an international conference of the leading retinal stem cell researchers in the world, which was held at Cedars-Sinai Medical Center on October 1, 2007, in order to identify the best approach and synthesize the latest developments in stem cell therapy for macular degeneration.

Click here for details of the conference and the curriculum vitae of the participants.

The symposium identified three promising areas of research to try and identify the underlying causes and develop a cure for patients with macular degeneration. These promising areas of research are: 1) molecular genetic studies to find gene defects and develop treatments by means of gene therapy, as has recently been demonstrated in animal models with retinal degeneration; 2) developing retinal stem cells from the cornea, which can be implanted into the retina to replace areas of the retina damaged by macular degeneration, and; 3) stimulating the eyes of patients with macular degeneration, using their own stem cells in their retinas, to repair areas damaged by disease.

In collaboration with the members of the Medical Genetics Institute and the International Stem Cell Institute at Cedars-Sinai Medical Center, we plan to pursue and support research in these three promising areas, to try and develop a cure for macular degeneration.

In order to transform these research efforts into treatments, therapies, and drugs, support from the public and private donor funding is needed to turn this research at Cedars-Sinai Medical Center into a patient-curing reality. If you are interested in participating in these efforts and/or would like to learn how you can become involved, please contact Jacquie Navratil at: jnavratil@eyedefectsresearch.org

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Join Cure KC

Cure KC

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Your generous donation in ophthalmology research ensures that pioneering advances are made possible and for treatments and cures to be realized for the millions who suffer from blinding eye diseases.

Outgoing Grants

Keratoconus Genetics and Molecular Genetics Research Program

Macular Degeneration Research and Stem Cell Symposium

Pediatric Corneal Transplant and Medication Program

Diabetes Research

Herpetic Eye Research

Cedars-Sinai Research Fellow

UCLA Jules Stein Eye Institute Optometric Scientist Chair

Incoming Grants

2007-2012
National Eye Institutes of Health R01 (Renewal) | Genes for Keratoconus

2005-2008
Skirball Foundation | Identifying Genes in Keratoconus

2001-2007
National Eye Institutes of Health R01 | Genes for Keratoconus

2000-2005
National Institutes of Health Mentor: K08 | Mapping Ocular Genes in Down Syndrome

1999
March of Dimes | Support for Genetic Disease and the Eye Conference

1996-2000
National Eye Institutes of Health R01 Award (Renewal) | Genetic Factors in Keratoconus

1993-1996
National Eye Institutes of Health R01 Award | Genetic Factors in Keratoconus

1993
Cedars-Sinai Biomedical Research Institute | Young Investigator's Award

1991
Schoellerman Trust Fund | Research in Ophthalmology Award

1989
Fight for Sight: Research to Prevent Blindness | Research Fellowship Award

1989
Knights Templar Eye Foundation | Research Award

1989
National Keratoconus Foundation | Research Award

2010
The Lincy Foundation |
Pediatric Corneal Transplantation Program

2010
Allergan |
Pediatric Corneal Transplant Program

2007
The Alcon Foundation |
Pediatric Corneal Transplantion Program

2008
California Community Foundation |
Keratoconus Research

2007
The Lincy Foundation |
Macular Degeneration Research

2006
The Alcon Foundation |
Pediatric Corneal Transplant Program

Research Cost

$1,500,000 | Molecular Genetics Laboratory for Corneal Genetic Research

$1,500,000 | Stem Cell Laboratory

$500,000 | High Output Genetics Sequencer

$ 100,000 | Research Laboratory Equipment

$80,000 | Ph.D. Support for Molecular Genetic Research

$75,000 | Clinical Research Fellow for Epidemiologic Studies

$50,000 | Infant Corneal Transplant

$50,000 | Research Fellowship

$25,000 | Research Symposia

$5,000 | NTACS for Keratoconus Surgery

$5,000 | Artificial Cornea

$5,000 | Corneal Tissue

$2,200 | 1 Yr. Supply of Medication

$25,000 | Clinical Trials