Diane-Michel.com

Resource: American Medical Association 
For immediate release
Oct. 26, 2009

CHICAGO -  As the nation continues to debate health reform, the American Medical Association (AMA) continues to advocate for reforms that will make the health care system work better for America’s patients and physicians. A new full-page advertisement under the headline, “A Healthier Tomorrow Depends on What We Do Today,” will run Tuesday in the Wall Street Journal’s special report “Fixing Healthcare.”

“Through reform our health care system can be improved for America’s patients and the physicians who dedicate their lives to caring for them,” said AMA President J. James Rohack, MD. “This new ad reiterates the AMA’s role in the reform debate as an advocate for patients and physicians, and shows that we will continue to be actively engaged until meaningful health reform is a reality.”

This ad is another piece of the AMA’s campaign to make health reform a reality. To view all AMA activity related to health reform, visit www.hsreform.org.

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Media contact:

Lisa Lecas
American Medical Association
(312) 464-5980

Resource:  National Institutes of Health

People with mutant forms of the gene that causes the rare disorder Gaucher disease are 5 times more likely to develop Parkinson’s disease than the general public, according to a new study. The finding may lead to new insights into developing novel therapeutic strategies for these disorders.

Parkinson’s disease is a neurodegenerative disorder that affects about 1.5 million Americans. The likelihood of developing the disorder increases with age and involves a combination of environmental risk factors and genetic susceptibility.

Earlier research by scientists at NIH’s National Human Genome Research Institute (NHGRI) and elsewhere found evidence that people with alterations in the GBA gene, which is responsible for Gaucher disease, may also be at increased risk for Parkinson’s disease. But the studies weren’t large enough to make a definitive link.

Gaucher disease arises when people inherit 2 defective copies of the GBA gene, which codes for the enzyme glucocerebrosidase. When defective, the enzyme can’t perform its normal duty of breaking down fatty molecules for disposal. The fatty molecules build up and engorge cells. Ultimately, this buildup can damage the spleen, liver, lungs, bone marrow and, in some cases, the brain.

To clarify the relationship between GBA and Parkinson’s disease, scientists from 16 research centers around the world pooled their genetic data on 5,691 Parkinson’s patients. The group included 780 Ashkenazi Jews, a population in which a particular type of Gaucher disease is more prevalent. These data were matched against a control group of 4,898 unaffected volunteers, including 387 Ashkenazi Jews. The study was supported in part by NHGRI and several other NIH components.

In the October 22, 2009, issue of the New England Journal of Medicine, the scientists reported that more than 3% of the Parkinson’s patients—but only 0.6% of controls—had at least 1 of 2 common GBA alterations. Among Ashkenazi subjects, 15.3% of those with Parkinson’s disease carried one of these GBA alterations compared to 3.4% of controls.

In addition to screening for the 2 common alterations, the entire GBA gene was sequenced in a subset of non-Ashkenazi volunteers—1,883 with Parkinson’s disease and 1,611 controls. This more thorough analysis linked several more mutations to Parkinson’s disease. Overall, 7% of the Parkinson’s patients were found to have the GBA alterations. Those Parkinson’s patients with the GBA alterations also had an earlier disease onset.

“This analysis illustrates how studying a rare but important disorder, like Gaucher disease, can provide powerful clues about more common disorders, such as Parkinson’s disease,” said NHGRI Scientific Director Dr. Eric Green. “Understanding the genetic basis of rare conditions can thus provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies.”

These mutations are among the most significant risk factors found to date for Parkinson’s disease. However, many GBA mutation carriers, as well as patients with Gaucher disease, never develop Parkinson’s disease. Other risk factors are clearly involved in the development of the disease.

Reference:
National Institutes of Science (October 26, 2009) Rare disease gene linked to Parkinson’s disease.  Retrieved October 26, 2009 from http://www.nih.gov/researchmatters/october2009/10262009parkinsons.htm

Resource:  National Cancer Institute

October is National Breast Cancer Awareness Month. As the federal government’s leading funder of breast cancer research, the National Cancer Institute supports a wide range of research to improve prevention, detection, and treatment of breast cancer. NCI also funds research on follow-up care for the growing number of breast cancer survivors. Take a look at some recent advances and selected resources, including a video.

On this page

Understand Your Risk

• Understanding  Breast Changes discusses common breast changes at various times of  life, types of follow-up testing, and types of biopsies. It helps women understand their screening results and emphasizes that not all breast changes mean cancer.
• Estimating Breast Cancer Risk describes the Breast Cancer Risk Assessment Tool, an online tool developed by NCI and others to help health care providers estimate a woman’s individual risk of breast cancer.
• The Breast Cancer Prevention Summary (PDQ®) provides an overview of factors that may raise or lower your risk of breast cancer. There is also information about clinical trials that study ways to lower the risk of developing breast cancer.
  • See a list of U.S. breast cancer prevention clinical trials that are open to new participants.
• Both men and women who have certain mutations in their BRCA1 or BRCA2 genes have an increased risk of breast cancer. See BRCA1 and BRCA2: Cancer Risk and Genetic Testing.

Steps Toward Better Detection and Treatment

Screening and Detection

• Women should get a mammogram every one to two years beginning at age 40 to check for breast changes.
  • See the NCI Fact Sheet about mammograms.
  • For an overview of tests commonly used to screen for breast cancer, see the Breast Cancer Screening (PDQ®) summary.
• Improving mammography is the goal of the NCI-supported Breast Cancer Surveillance Consortium (BCSC), which gathers and pools data from around the country into a centralized database on women undergoing mammography.
  • See Improving Mammography Quality, Expanding Screening Research in the NCI Cancer Bulletin.
• See a list of U.S. breast cancer screening and detection clinical trials open to new participants.

Treatment

• The Breast Cancer Treatment (PDQ®) summary provides an overview of current standard treatment options.
  • See a list of U.S. breast cancer treatment clinical trials open to new participants.
• The NCI factsheet Adjuvant and Neoadjuvant Therapy for Breast Cancer explains side effects, risks, and benefits of two different types of breast cancer therapy.  Adjuvant therapy is treatment given after primary therapy to increase the chance of long-term survival. Neoadjuvant therapy is treatment given before primary therapy.
• Weekly Paclitaxel Improves Breast Cancer Survival summarizes the results of a randomized clinical trial showing that weekly doses of the drug paclitaxel (Taxol®) after surgery and standard chemotherapy improves disease-free and overall survival in women with breast cancer.

• “Targeted Therapies for Breast Cancer” is an animated tutorial focusing on targeted therapies that have been and are being developed to treat breast cancer. It describes important molecular pathways in breast cancer cells and discusses new therapeutic agents, including small molecules and monoclonal antibodies that target these pathways.
  • Animated/Flash Version (Flash – 15.00 min.)
  • HTML/Accessible Version (For low-bandwidth connections)

Life after Breast Cancer

• Lymphedema, a condition in which lymph fluid builds up in damaged soft body tissues and causes swelling, can be a painful side effect of breast cancer treatment.
  • For information about this condition, see the Lymphedema (PDQ®) summary.

• Slowly progressive weight lifting did not aggravate limb swelling among breast cancer survivors with lymphedema, according to a randomized clinical trial (see the story).
• Cognitive changes associated with chemotherapy for breast cancer and other kinds of cancer may, in about 20 percent of survivors, persist after treatment has ended. See Delving into Possible Mechanisms for Chemobrain in the NCI Cancer Bulletin.
• Other NCI resources related to cancer survivorship include
  • Follow-Up Care After Cancer Treatment
  • Facing Forward: Life After Cancer Treatment
  • NCI’s Office of Cancer Survivorship

General Breast Cancer Information

• The Breast Cancer Home Page is NCI’s gateway Web page to information about breast cancer.
• What You Need To Know About™ Breast Cancer is a patient education booklet about the disease.
• A Snapshot of Breast Cancer provides key information about  disease incidence and mortality, NCI funding trends, relevant research activities, and recent scientific advances.