Corporate Banner
Satellite Banner
Stem Cells, Cellular Therapy & Biobanking
>
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Cells from Skin Create Model of Blinding Eye Disease

Published: Monday, November 12, 2012
Last Updated: Monday, November 12, 2012
Bookmark and Share
For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.

Dr. David Gamm, director of the University of Wisconsin-Madison's McPherson Eye Research Institute, said that while Best disease is relatively rare, having a patient-specific model of the eye disease, which destroys the macula of the retina, could lead to a greater understanding of more common eye disorders such as age-related macular degeneration.

“This model gives us a chance to understand the biological effects of human gene mutations in a relatively expeditious manner,” says Gamm, associate professor of ophthalmology and visual sciences and pediatrics at the UW School of Medicine and Public Health. “Ultimately, we hope the model will help us craft treatments to slow or reverse the course of Best disease.”

Gamm and lead researchers Dr. Ruchira Singh and Dr. Wei Shen, all members of UW-Madison's Waisman Center, took skin samples from members of two Chicago-area families with Best disease. Children in those families have a 50-percent chance of inheriting the gene that causes the disease, which begins destroying the macula as early as age three.

Using samples of affected and unaffected siblings, they turned the skin into stem cells, then into retinal pigment epithelium, the cells of the eye that are affected by the disease.

In the laboratory dish, they were able to track the changes that underlie a lesion on the retina that resembles “egg yolk,” and progresses to a stage called “scrambled egg,” which destroys the central vision.

The UW-Madison model revealed some of the cellular processes causing the disease. The models of the Best disease patients showed a buildup of fluid and old photoreceptor cells, indicating something gone wrong with the ability to degrade and remove debris such as dead cells. On a molecular level, the Best cells were slow to degrade rhodopsin, a biological pigment in photoreceptor cells, and had differences in calcium signaling and oxidative stress.

“These results give us some ideas where to look for therapies that would allow us to interfere with the disease process,” says Gamm. “And the stem cell model gives us a chance to test those therapies before trying them on patients.”
 
Even more important, on a human level, is how excited some of the family members were to participate in understanding and eventually treating a disease that has plagued generations of their families.

“These family members know they’re not getting treated directly as a result of this study, but they’re doing it out of concern for the next generation,” Gamm said. “That brings peace to them, to know that they’re not passive victims of this disease, but instead, active players in the discovery process.”

The chief research officer of the Foundation Fighting Blindness, which helped fund the Best disease project, says the method holds promise for a number of retinal conditions.

“We are delighted by the highly innovative research of Dr. Gamm and his lab in harnessing stem cells to better understand complex retinal diseases and move us closer to vision-saving treatments and cures,” says Dr. Stephen Rose. “His techniques can be used to help characterize and overcome the entire spectrum of inherited retinal conditions."

The study on a model for Best disease is being published online today in the journal Human Molecular Genetics.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

In Directing Stem Cells, Context Matters
The surface cells are grown on has a profound effect on differentiation.
Tuesday, September 09, 2014
Wisconsin Scientists Find Genetic Recipe to Turn Stem Cells to Blood
The ability to reliably and safely make in the laboratory all of the different types of cells in human blood is one key step closer to reality.
Monday, July 14, 2014
New Gene Repair Technique Promises Advances in Regenerative Medicine
Using human iPSC’s and DNA-cutting protein from meningitis bacteria, researchers have created an efficient way to target and repair defective genes.
Thursday, August 15, 2013
Adult Cells Transformed into Early-Stage Nerve Cells, Bypassing the Pluripotent Stem Cell Stage
A UW-Madison research group has converted skin cells from people and monkeys into a cell that can form a wide variety of nervous-system cells.
Tuesday, May 07, 2013
Stem Cell Symposium to Address Brain, Nervous System
Seventh Symposium will focus on the mechanisms of neural development, modeling neural disorders, and harnessing the potential of neural regeneration.
Thursday, April 12, 2012
Study Reveals Critical Similarity Between Two Types of Do-it-All Stem Cells
Researchers at the University of Wisconsin-Madison report the first full measurement of the proteins made by both types of stem cells.
Monday, September 12, 2011
Study Shows Patient's Own Cells May Hold Therapeutic Promise After Reprogramming, Gene Correction
Scientists from the Morgridge Institute for Research, the University of Wisconsin-Madison, the University of California and the WiCell Research Institute moved gene therapy one step closer to reality.
Tuesday, April 26, 2011
Study Shows Patient’s Own Cells may Hold Therapeutic Promise After Reprogramming, Gene Correction
Scientists determine that the process of correcting a genetic defect does not substantially increase the number of potentially cancer-causing mutations in induced pluripotent stem cells.
Wednesday, April 13, 2011
Scientific News
The Mending Tissue - Cellular Instructions for Tissue Repair
NUS-led collaborative study identifies universal mechanism that explains how tissue shape regulates physiological processes such as wound healing and embryo development.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
iPS Cells Discover Drug Target for Muscle Disease
Researchers have designed a model that reprograms fibroblasts to the early stages of their differentiation into intact muscle cells in a step towards a therapeutic for Duchenne muscular dystrophy.
Engineered Hot Fat Implants Reduce Weight Gain
Scientists at UC Berkeley have developed a novel way to engineer the growth and expansion of energy-burning “good” fat, and then found that this fat helped reduce weight gain and lower blood glucose levels in mice.
Transplanted Stem Cells Can Benefit Retinal Disease Sufferers
Tests on animal models show that MSCs secrete growth factors that suppress causes of diabetic retinopathy and macular degeneration.
MRI Scanners Can Steer Therapeutics to Specific Target Sites
Scientists from the University of Sheffield have discovered MRI scanners, normally used to produce images, can steer cell-based, tumour busting therapies to specific target sites in the body.
Team Finds Early Inflammatory Response Paralyzes T Cells
Findings could have enormous implications for immunotherapy, autoimmune disorders, transplants and other aspects of immunity.
Early Detection of Lung Cancer
The University of Manchester has signed a collaboration agreement with Abcodia to perform proteomics studies on a cohort of non-small cell lung cancer cases from the UKCTOCS biobank, with the aim of discovering new blood-based biomarkers for earlier detection of the disease.
Researchers Identify Drug Candidate for Skin, Hair Regeneration
Formerly undiscovered role of protein may lead to the development of new medications that stimulate hair and skin regeneration in trauma or burn victims.
Basis for New Treatment Options for a Fatal Leukemia in Children Revealed
Detailed molecular analyses allow new insights into the function of tumour cells and options for new treatments.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!