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Rare Womens Lung Disease May Yield Insights Into Common Diseases

For many decades, medical research studies focused primarily on men and the results of countless studies were then applied to women. But we now know that the biological sex and gender differences between men and women are more than skin deep. Beginning in 1990, the Society for Womens Health Research, a Washington, D.C., based advocacy organization, conveyed to a national audience the need for including women in biomedical research studies. Today, research on women is robust.

Biomedical research can make an enormous difference in the lives of women. Take Dr. Elizabeth Petri Henske, M.D., the recipient of the 2007 Society for Womens Health Research Medtronic Prize for Scientific Contributions to Womens Health. The prize was established to recognize a women scientist or engineer for her contributions to womens health and encourage women to work on issues uniquely related to womens health.

Henske is an oncologist at the Fox Chase Cancer Center in Philadelphia, Pa. Her work focuses on the genetic and cellular mechanisms leading to two diseases not well-known to the public: tuberous sclerosis complex (TSC) and lymphangioleiomyomatosis (LAM).

LAM is a lung disease that almost exclusively affects young women. LAM has a stronger female predisposition than lupus or breast cancer, and may have the strongest biological sex predisposition of any human disease, except for diseases of the genital organs, and it is often fatal. Scientists estimate that there could be as many as 250,000 LAM patients worldwide.

LAM affects young women, and can strike suddenly during pregnancy, Henske said. LAM causes the lungs to fill with abnormal cells. As a result, cysts or holes can develop in the lung, causing it to collapse. The disease takes a major toll on the body, making even mundane tasks difficult. Women with LAM often need oxygen, are continuously short of breath, and are unable care for their children or walk up a flight of stairs , Henske said. Many women with LAM die prematurely.

As part of her work, Henske discovered that mutations in the tuberous sclerosis gene, which triggers TSC, a genetic disorder that causes tumors to form in many different organs, including the brain, eyes, heart, kidney, skin and lungs, plays a role in the cause of LAM. Her current work involves looking into the role female hormones play in the growth and metastasis of LAM cells.

Her tireless efforts have shed light on the connection between two diseases, provided understanding of the underlying mechanisms and hopefully will one day lead to a cure. By studying LAM we hope to develop treatments to eradicate LAM cells, and also learn more about how hormones cause abnormal cells to grow and metastasize, Henske said.

Henskes work may also benefit research on common diseases because the cellular pathways that are activated in tuberous sclerosis and LAM are also activated in many forms of cancer, and in diabetes and obesity. What is learned about LAM may help us understand more common diseases in which hormones play an important role, such as breast cancer. The impact of LAM research could spread to other diseases that are not hormonally dependent, she points out.

Despite the current advances being made by researchers like Henske, there is still an enormous amount that we do not yet understand about sex and gender differences in health and disease, ground that will hopefully be covered by researchers in the future.


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