Fast Breaking Comment by Margaret Pericak-Vance

Margaret Pericak-Vance answers a few questions about this month's fast breaking paper in Multidisciplinary field.

From •>>February 2006

Field: Multidisciplinary
Article Title: Complement factor H variant increases the risk of age-related macular degeneration
Authors: Haines, JL;Hauser, MA;Schmidt, S;Scott, WK;Olson, LM;Gallins, P;Spencer, KL;Kwan, SY;Noureddine, M;Gilbert, JR;Schnetz-Boutaud, N;Agarwal, A;Postel, EA;Pericak-Vance, MA
Journal: SCIENCE
Volume: 308
Issue: 5720
Page: 419-421
Year: APR 15 2005
* Duke Univ, Med Ctr, Ctr Human Genet, DUMC Box 3445,595 LaSalle St, Durham, NC 27710 USA.
* Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA.
* Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA.
* Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN 37232 USA.
* Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Nashville, TN 37232 USA.
* Duke Univ, Med Ctr, Duke Univ Eye Ctr, Durham, NC 27710 USA.
* Duke Univ, Med Ctr, Dept Ophthalmol, Durham, NC 27710 USA.

Why do you think your paper is highly cited?

“Macular degeneration is an important cause of vision impairment and legal blindness in older adults...”

View pictures of Vanderbilt and Duke groups.

It is highly cited for several reasons. The first is that age-related macular degeneration (AMD) is an important disease that has a significant impact on older adults. Efforts to gain insight into the causes of AMD are important. The second reason is that the tools used in the analysis of the data were the direct result and product of the Human Genome Initiative. Finally, AMD is a complex genetic disease involving both genetic and environmental risk factors. Successful identification of these risk factors, given the underlying complexity of the etiology of AMD, serves as a paradigm for other complex, common disorders.

Does it describe a new discovery or a new methodology that's useful to others?

Yes. Our collaborating teams at Duke University Medical Center and Vanderbilt University Medical Center have pinpointed the first major gene that contributes to an individual’s risk for developing AMD. This chronic, progressive disease—which affects as many as 15 million people in the United States—is the leading cause of visual impairment and legal blindness in older adults. A common variant of the newly identified gene, complement factor H (CFH), explains approximately 43% of the risk of AMD among older adults.

Could you summarize the significance of your paper in layman's terms?

Macular degeneration is an important cause of vision impairment and legal blindness in older adults, and a primary cause of loss of independence in older adults. This gene opens the door to a new understanding of the factors that contribute to this disease. It may ultimately lead to new methods for identifying those at high risk for macular degeneration and suggest new treatments and preventative therapies.

How did you become involved in this research, and were there successes or failures along the way?

We became involved in the research because of our interest in the genetics of eye disease. We were especially intrigued by AMD because we realized that although unraveling the genetic causes of AMD would be a difficult, our success could eventually have a lasting impact on prevention and treatment.

If applicable, what are the social or political implications of your research?

Our study illustrates the benefits that are beginning to be realized from the public investment in the Human Genome Project.

Margaret A. Pericak-Vance, Ph.D.
Director
Center for Human Genetics
James B. Duke Professor of Medicine
Chief of the Section of Medical Genetics
Duke University Medical Center
Durham, NC, USA

ESI Special Topics, February 2006
Citing URL - http://www.esi-topics.com/fbp/2006/february06-MargaretPericak-Vance.html