HOME >> BIOLOGY >> NEWS
Gene defects found in age-related macular degeneration

Howard Hughes Medical Institute (HHMI) researchers have identified subtle defects in a single gene that underlie a hereditary form of age-related macular degeneration, the leading cause of irreversible vision loss in the developed world.

Although the genetic mutations discovered by the researchers affect only about two percent of patients with the disorder, the findings offer important insights for researchers who seek to understand age-related macular degeneration (AMD).

"The clinical entity that we call AMD is actually as many as fifty diseases," said the study's lead author, HHMI investigator Edwin M. Stone, who is at the University of Iowa Carver College of Medicine. "They simply look so similar that clinicians call them the same thing. Because of such complexity, we don't understand the molecular mechanisms of the disease very well, and this has limited our ability to develop preventive therapy for it.

"Looking for genetic causes of AMD is potentially very meaningful because it will help us identify the mechanisms of the disease," he said. "Knowing the genetic bases of AMD would also enable us to create an animal model that could be used to test therapies. And, if we understood several of the mechanisms, we could potentially divide the patient population into clinically relevant subgroups, so that we could direct specific treatments to those most likely to benefit from them."

Stone and HHMI investigator Val C. Sheffield led the research team that published its findings in the July 22, 2004, issue of the New England Journal of Medicine (NEJM). Stone and Sheffield collaborated on the study with colleagues at the University of Iowa and the University of Southampton.

AMD is a worldwide problem, affecting some seven million people in the United States alone. Vision loss occurs when depo
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
21-Jul-2004


Page: 1 2 3

Related biology news :

1. Cigarette smoke causes breaks in DNA and defects to a cells chromosomes, Pitt study finds
2. Antioxidants during pregnancy may help prevent birth defects tied to alcohol
3. LARGE protein can overcome defects in some types of muscular dystrophy
4. Cardiofunk mutation: Probable source of congenital heart defects
5. Fat cells heal skull defects in mice, Stanford research shows
6. Missing gene a potential risk factor for birth defects
7. Cystic fibrosis gene linked to fatty acid defects
8. Researchers show absence of key oxygen-sensing molecule leads to developmental defects
9. Researchers identify second gene responsible for rare syndrome associated with skeletal defects
10. Stem cell defects are key to Hirschsprungs disease
11. Specific gene mutations responsible for congenital heart defects

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/21/2019)... ... ... Dr. David Greene , Founder and CEO of R3 Stem Cell, ... the Rescue, was produced by Award Winning filmmaker Dr. Elliott Haimoff. , In the ... safety of the procedures along with the potential for helping patients avoid potentially risky ...
(Date:5/21/2019)... , ... May 21, 2019 , ... At their May ... for Tissue Engineered Medical Products (TEMPs) of the American Society for Testing and ... . Gaining this approval was the next step in the company’s plan to ...
(Date:5/15/2019)... ... 15, 2019 , ... The conventional method for characterizing brain ... ultra-thin two-dimensional slices, placed on glass microscope slides and qualitatively evaluated after staining. ... the brain is a highly heterogenous and complex tissue that is challenging to ...
Breaking Biology News(10 mins):
(Date:4/18/2019)... ... 2019 , ... Taking a step closer to a “green” ... Worcester Polytechnic Institute (WPI) has developed a novel process using an unusual solvent ... other biofuels more economically. , Isobutanol, like ethanol, is an alcohol, but its ...
(Date:4/10/2019)... ... April 10, 2019 , ... ... have locked into multiple agreements to help companies advance their innovations to ... industry, ranging from synthetic biology companies that are gene editing therapeutic cells ...
(Date:4/8/2019)... JORDAN, Utah and BOSTON (PRWEB) , ... April ... ... in delivering cloud-based enterprise-class unified communications and collaboration solutions, announced today the launch ... provides integration to an unprecedented range of business and contact-orientated applications while using ...
(Date:3/29/2019)... ... March 28, 2019 , ... ... milestones, CARB-X has proceeded with a second stage of funding for Specific’s Reveal™ ... which is on top of the $1.7 million already awarded by CARB-X. The ...
Breaking Biology Technology:
Cached News: