Supporting those affected by Scleroderma

Spotlight on Advocacy, Research and Legislation
Scientists Identify New Genetic Region Associated with Scleroderma
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
January 2011

New research supported, in part, by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has identified a new genetic link to systemic sclerosis (also known as systemic scleroderma) and confirmed three previously discovered links to the disease, which can cause thickening of the skin, narrowing of blood vessels and scarring of internal organs.

The study, which used a technique called genome-wide association to compare the genes of 2,296 people with systemic scleroderma to 5,171 without the disease, directed the scientists to a region of the genome not previously associated with the disease known as CD247. These findings, reported in the journal Nature Genetics, were confirmed during a second study involving 2,753 people with systemic scleroderma and 4,569 without the disease. The genetic material from the patients was collected through a collaboration of medical centers in the United States, Spain, Germany and the Netherlands. 

The House of Representatives passed the Scleroderma Research and Awareness Act (H.R. 2408) by a unanimous voice-vote before adjourning for the November 2010 elections.  Your help is needed in getting the Act passed in the Senate, so that it can become law.

Please contact your Senator and encourage them to pass the Act.  Some tips for communicating with congressional offices:

  • Identify yourself as a constituent and ask to speak with the legislator’s Health Care Legislative Assistant.
  • Tell the aide that you are calling to encourage the Senator to help pass the Scleroderma Research and Awareness Act (H.R. 2408) in the Senate. It will be important emphasize that the bill has already passed the House.
  • Briefly explain what scleroderma is.
  • Briefly tell them your personal story about scleroderma.
  • Explain that H.R. 2408 will increase federal support for scleroderma research at the NIH and establish, for the first time, a public awareness campaign on scleroderma at the Centers for Disease Control and Prevention.
  • Give the aide your contact information and ask to be informed about the actions of the senator on this key issue.

If you do not know who your senators are, please go to www.senate.gov and select your state from the drop-down box in the upper right corner. Phone numbers for all congressional offices are also listed on www.senate.gov. Calling works best, but if you prefer to communicate via e-mail, you can do so through www.senate.gov.

The “Scleroderma Research and Awareness Act” will:
Direct the National Institutes of Health to intensify and coordinate activities relating
to scleroderma, including:
  • Research on etiology and the development of new treatments
  • Evaluate new treatments through clinical trials
  • Research on the relationship between scleroderma and secondary conditions, including: pulmonary hypertension, gastroparesis, Raynaud’s phenomenon and Sjorgen’s syndrome.
  • Support for the training of new investigators
  • Direct the Centers for Disease Control and Prevention to establish a scleroderma public awareness campaign highlighting disease symptoms, prevalence, related conditions, and the importance of early diagnosis.
Overcoming Odds

UMSL (University of Missouri at St. Louis) graduate overcomes disease to earn PhD 

Nicole White earned a doctoral degree in criminology and criminal justice from UMSL. She participated in commencement on Saturday. In 2005, White was diagnosed with a rare disease, which caused her to be hospitalized more than 30 times and lose sight in one eye and mobility.  MORE

UMSL Daily, 9/5/2011
By PR Newswire 05/30/12 - 02:53 PM EDT

Promising New Research May Have Impact on Scleroderma Population
Key Peptide that Blocks Skin, Lung Fibrosis Could Improve Mortality Rates

DANVERS, MASS. (May 30, 2012) – A member of the Scleroderma Foundation’s Board of Directors has led a team of researchers who have identified a peptide that can block fibrosis of the skin and lungs, according to a report published today. “Lung fibrosis currently is the number one cause of death in patients with scleroderma,” said the report’s senior author Carol A. Feghali-Bostwick, Ph.D. “Identifying a way to stop this process from happening could have enormous impact on mortality and quality of life.” Dr. Feghali-Bostwick is vice chair of the Scleroderma Foundation’s Board of Directors and chair of the Foundation’s Research Committee.