Disorders

Age-Related Macular Degeneration (AMD)

• AMD Research Review
  • CHG Researchers Identify First Major Gene for Age-Related Macular Degeneration
  • Ordered Subset Linkage Analysis Supports a Susceptibility Locus for Age-Related Macular Degeneration on Chromosome 16p12
• AMD Newsletter
• AMD Study Participation
  
• CHG AMD Publications
  
• Additional AMD Information
  

AMD Research Review

Age-related macular degeneration (AMD) is the most common cause of legal blindness in people over the age of 55 in the US. The cause of AMD has not been determined, but it is clearly a complex disease with multiple environmental and genetic risk factors.

AMD research focuses on the identification and evaluation of genetic risk factors and the interactions of these risk factors with environmental influences. Our hypothesis is that genetic risk factors are critical to the development of AMD. These genetic risk factors then interact with environmental factors (diet, smoking, etc.) to trigger the development of the disease as well as to determine how fast the disease progresses. Identification of these genetic and environmental risk factors is the first step towards earlier detection, prevention, and in the future, better treatments.

February 2006
CHG publication named ``Fast Breaking'' by Essential Science Indicators

The organization, Essential Science Indicators (ESI) monitors trends in science through quantitative analysis of more than 11,000 scientific journals worldwide and named ``Complement facto H variant increases the risk of age-related macular degeneration'' (described below) the most frequently cited paper in the multidisciplinary field. The paper was published in the journal Science by researchers from the Duke CHG and the Duke University Eye Center along with their collaborators at Vanderbilt University.

March 2005
CHG Researchers Identify First Major Gene for Age-Related Macular Degeneration

Researchers have worked with partners from the Vanderbilt Center for Human Genetics Research to uncover genetic factors related to AMD. The implicated gene is called complement factor H (CFH). There are several different forms (variants) of the CFH gene, and every individual inherits one form from their mother and one from their father. Research estimates indicate that having one particular form of this gene explains approximately 43 percent of AMD cases ...more...

July 2004
Ordered Subset Linkage Analysis Supports a Susceptibility Locus for Age-Related Macular Degeneration on Chromosome 16p12

Our results suggest that a susceptibility gene on chromosome 16p12 may predispose to AMD, particularly to the neovascular form, and that further research into the previously suggested association of neovascular AMD and systemic hypertension is warranted...more...

AMD research at the Duke University Medical Center is a collaborative effort between researchers at the Duke Center for Human Genetics, Duke University Eye Center and Vanderbilt University Medical Center (VUMC).

Duke AMD Study Team

Eric Postel, MD		Principal Investigator
Silke Schmidt, PhD		Co-Investigator
Mike Hauser, PhD		Co-Investigator
Jennifer Caldwell, COA		Clinical Coordinator
Vanderbilt AMD Study Team
Jonathan Haines, PhD		Principal Investigator
Anita Agarwal, MD		Co-Investigator

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AMD Newsletter

News about AMD Research, Spring 2005.

To obtain a print copy, contact:

Jennifer Caldwell
AMD Clinical Coordinator
Phone: (toll-free) (877) 385-3263
E-mail: caldw018@mc.duke.edu

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AMD Study Participation

We identify genetic risk factors by studying patients with AMD and their families, and comparing them to a control group of individuals without AMD.

We need the following individuals to participate:

• Individuals with AMD who are 55 years of age or older with no other retinal disease.
  
• Family members (including spouses) with or without AMD who are 55 years or older.
  
• Individuals within the general population without AMD who are 75 years of age or older.
  

Participation includes giving a blood sample, completing family history and environmental risk factor questionnaires and undergoing a thorough eye examination including eye photographs at Duke University Eye Center. If travel to Duke is impossible, arrangements can be made for participation through an ophthalmologist who specializes in diseases of the retina near the patient's and family member's home. All costs of the study are covered by DUMC. There are no charges to participants.

Once this part of the study is complete, we extract the genetic material (DNA) from the blood sample. We then compare the DNA of affected and unaffected individuals and family members. From there, we can investigate DNA areas where genes contributing to the risk of AMD may reside and try to identify the specific genes involved. Once we identify genes that play a role in causing AMD, we can determine the mechanism of the disease and how to both treat and prevent it.

All information is confidential and not shared with other family members or personnel outside of the CHG AMD research group without permission of the participant. Blood samples and clinical information are assigned an anonymous sample number upon entry to the study. Names and other personal identities are not used. The more families that participate, the faster the research will progress.

Patient and family members interested in participating or who want additional information, should contact the AMD clinical coordinators.

Duke:
Jennifer Caldwell, COA
Clinical Coordinator
Duke University Medical Center
Wadsworth Bldg.
Box 3802
Durham, NC 27710
Phone: (toll-free) (877) 385-3263
E-mail: caldw018@mc.duke.edu

Vanderbilt:
Kelly A. Taylor, MS, CGC
Certified Genetic Counselor
Family Ascertainment Core Manager
Center for Human Genetics Research
Vanderbilt University Medical Center
1207 17th Ave Suite 100
Nashville, TN 37212-2838
Phone: (615) 322-7195
Fax: (615) 322-2242
E-mail: ktaylor@chgr.mc.vanderbilt.edu

This research is supported by NIH National Eye Institute grant #EY12118.

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CHG AMD Publications

As CHG researchers and collaborators continue to define the genetic causes of AMD, they publish their findings in leading academic journals and share their knowledge with colleagues at meetings and conferences.

AMD Research Publications

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Additional AMD Information

AMD Support Groups and Information Sources

American Academy of Ophthalmology EyeOrbit

American Health Assistance Foundation Macular Degeneration Research
22512 Gateway Center Drive
Clarksburg, MD 20871
Phone: (toll free) (800) 437-2423
Phone: (301) 948-3244

Macular Degeneration Foundation
PO Box 9752
San Jose, CA 95157
Phone: (toll free) (888) 633-3937
Phone: (408) 260-1335

The Macular Degeneration Partnership
8733 Beverly Boulevard, Suite 201
Los Angeles, CA 90048
Phone: (310) 423-6455

Macular Degeneration Awareness
Education Support Group Against All Odds, Inc.
Contact: Morton Bond
700 South Hollybrook Drive #210
Pembroke Pines, FL 33025
Phone: (305) 431-3111

National Eye Health Education Program
National Eye Institute
2020 Vision Place
Bethesda, MD 20892-3655

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