Research Program

The best way to help people living with scleroderma is to fund the most promising research aimed at improved therapies and a cure.

Research is the cornerstone of the Scleroderma Research Foundation’s existence. Only from continued investment in top quality medical research will discoveries be made to help people living with scleroderma and improve their quality of life. To that end, we press forward with finding, funding and facilitating the most promising research projects at institutions around the world.

The Scleroderma Research Foundation (SRF) funds research aimed at understanding scleroderma pathogenesis (disease development), identifying markers for disease progression, developing new and more relevant animal models for scleroderma and developing new therapies. Through generous donations, the SRF awards research grants totaling more than $1,000,000 annually and is the largest nonprofit source of funds for scleroderma research.

Our core projects are aimed at understanding how the immune system and vasculature malfunction, how fibrosis begins and progresses as well as the interrelationships among these facets of the disease. Research relating to disease mechanisms provides a basis for identifying new therapeutic targets and the SRF actively promotes the exploration of new therapies.

The Foundation continues to focus significant energy on developing animal models that mimic aspects of scleroderma. These models will allow researchers to ask questions that cannot be asked in human studies and will complement experiments done with human tissue. Additionally, the SRF funds research aimed at identifying scleroderma biomarkers. Effective biomarkers could be used for early diagnosis, predicting and monitoring disease progression and assessing response to therapies.

The Scleroderma Research Foundation is dedicated to fostering the creation and continued success of Scleroderma Clinical Centers of Excellence. At these Centers, physicians representing many different specialties, such as rheumatology, pulmonology, cardiology, gastroenterology and dermatology are dedicated to clinical research and the care of scleroderma patients. Patients receive integrated care at the Centers and because all of the specialists are present and work closely together, standards of scleroderma care can be advanced. The Centers are also critical for training the next generation of scleroderma physicians and clinical investigators. Physicians and clinical investigators at the Centers play an integral role in other research projects funded by the SRF by providing vital clinical expertise.

With the expert guidance of our esteemed Scientific Advisory Board, our research projects are evaluated annually at the SRF Scientific Workshop, where intensive review and discussion of the next critical steps take place. The workshop is a forum for leading scientists from inside and outside the SRF program to provide new perspectives on the search for a cure, while promoting synergy among investigators and advancing the growing understanding of scleroderma.

Understanding of scleroderma at the cellular and molecular level is increasing thanks in part to partnerships the SRF has facilitated. Increasingly, SRF-funded scientists are exploring new opportunities that will translate laboratory advances into effective therapies to help patients live longer, fuller lives.

The Scleroderma Research Foundation is leading the scleroderma research effort by:

  • Promoting collaboration and cross-institutional cooperation among scientists in a variety of disciplines, through a strategic, integrated program.
  • Attracting promising new scientists to scleroderma research, through its Postdoctoral Fellowship Program.
  • Promoting and maintaining Scleroderma Centers of Excellence, such as the Scleroderma Center at Johns Hopkins University.
  • Bringing new experts, technology and forward thinking to the field of scleroderma research.
 
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Research News

The role of genetics and epigenetics in the pathogenesis of systemic sclerosis

Author: Jasper C. A. Broen, Timothy R. D. J. Radstake & Marzia Rossato
Date Published: August-2014
Source: Nature Reviews Rheumatology

Systemic sclerosis (SSc) is a complex autoimmune disease of unclear aetiology. A multitude of genetic studies, ranging from candidate-gene studies to genome-wide association studies, have identified a large number of genetic susceptibility factors for SSc and its clinical phenotypes, but the contribution of these factors to disease susceptibility is only modest. However, in an endeavour to explore how the environment might affect genetic susceptibility, epigenetic research into SSc is rapidly expanding. Orchestrated by environmental factors, epigenetic modifications can drive genetically predisposed individuals to develop autoimmunity, and are thought to represent the crossroads between the environment and genetics in SSc.

New Study Pinpoints Complex Genetic Origins for Autoimmune Diseases

Author: Jeffrey Norris
Date Published: October-2014
Source: UCSF

Scores of autoimmune diseases afflicting one in 12 Americans — ranging from type 1 diabetes, to multiple sclerosis (MS), to rheumatoid arthritis, to asthma — mysteriously cause the immune system to harm tissues within our own bodies. Now, a new study pinpoints the complex genetic origins for many of these diseases, a discovery that may lead to better diagnosis and ultimately to improved treatments. A team of scientists from UC San Francisco, the Broad Institute of MIT and Harvard, and Yale School of Medicine developed a new mathematical tool to more deeply probe existing DNA databases. In so doing they discovered how certain DNA variations, when inherited, are likely to contribute to disease.

An Immunochip based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

Author: Jane Zochling, Felicity Newell, Jac C Charlesworth, et al
Date Published: October-2014
Source: Arthritis Research & Therapy

Introduction: The aim of the study was to interrogate the genetic architecture and autoimmune pleiotropy of scleroderma susceptibility in the Australian population. Methods: We genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single nucleotide polymorphisms (SNPs) at immune loci. Controls were taken from the 1958 British Birth Cohort.

The Tsk2/+ Mouse Fibrotic Phenotype is Due to a Gain-of-Function Mutation in the PIIINP Segment of the Col3a1 Gene

Author: Kristen B Long, Zhenghui Li, Chelsea M Burgwin, et al
Date Published: October-2014
Source: Journal of Investigative Dermatology

Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight skin and excessive deposition of dermal ECM proteins. By linkage analysis, we mapped the Tsk2 gene mutation to less than 3 megabases on chromosome 1.

Scleroderma: the role of serum autoantibodies in defining specific clinical phenotypes and organ system involvement.

Author: Robyn Domsic
Date Published: September-2014
Source: Current Opinion in Rheumatology

Purpose of review: To discuss recent advances in serologic testing for systemic sclerosis (SSc)-associated antibodies with respect to the diagnosis and prognosis of the disease. Recent findings: The importance of SSc antibodies for diagnosis has become increasingly recognized, as evidenced by incorporation into the 2013 American College of Rheumatology/the European League Against Rheumatism clinical classification criteria for SSc.

News for Patients

New Study Pinpoints Complex Genetic Origins for Autoimmune Diseases

Author: Jeffrey Norris
Date Published: October-2014
Source: UCSF

Scores of autoimmune diseases afflicting one in 12 Americans — ranging from type 1 diabetes, to multiple sclerosis (MS), to rheumatoid arthritis, to asthma — mysteriously cause the immune system to harm tissues within our own bodies. Now, a new study pinpoints the complex genetic origins for many of these diseases, a discovery that may lead to better diagnosis and ultimately to improved treatments. A team of scientists from UC San Francisco, the Broad Institute of MIT and Harvard, and Yale School of Medicine developed a new mathematical tool to more deeply probe existing DNA databases. In so doing they discovered how certain DNA variations, when inherited, are likely to contribute to disease.

Prognosis in Scleroderma: Sex and the Joints

Author: Nancy Walsh
Date Published: October-2014
Source: MedPage Today

Creation of the European League Against Rheumatism (EULAR)'s scleroderma registry -- the largest in the world -- has permitted researchers to examine risk factors for disease progression and outcomes, including the effects of male sex and early clinical signs in two recent reports. Scleroderma's Gender Gap Men affected with systemic sclerosis (SSc) have a strikingly worse disease phenotype than women, European researchers reported online in Annals of the Rheumatic Diseases.

Interstitial Pneumonia? Rheumatic Disease Has Better Odds Than Idiopathic

Author: Rita Baron-Faust
Date Published: October-2014
Source: Rheumatology Network

Patients who have connective tissue disease (CTD) survive longer with interstitial pneumonia than those with idiopathic pulmonary fibrosis (IPF), according to new research, although declines in pulmonary function over time appear similar in both groups. Researchers from the National Jewish Health center in Denver speculate that the worse outcome in IPF patients is due to a higher rate of fatal acute exacerbations of pulmonary fibrosis than among CTD patients with “usual” interstitial pneumonia.

Extra Help With Medicare Prescription Drug Plan Costs

Author: Social Security Administration
Date Published: October-2014
Source: Social Security Administration

Welcome! The Medicare Prescription Drug program gives you a choice of prescription plans that offer various types of coverage. You may be able to get extra help to pay for the monthly premiums, annual deductibles, and co-payments related to the Medicare Prescription Drug program. However, you must be enrolled in a Medicare Prescription Drug plan to get this extra help.

Scientists make important breakthrough in fight against debilitating autoimmune diseases

Author: University of Bristol
Date Published: September-2014
Source: News Medical

cientists have made an important breakthrough in the fight against debilitating autoimmune diseases such as multiple sclerosis by revealing how to stop cells attacking healthy body tissue. Rather than the body's immune system destroying its own tissue by mistake, researchers at the University of Bristol have discovered how cells convert from being aggressive to actually protecting against disease.

Ways to Give

There are many ways that you can support the work of the Scleroderma Research Foundation. We are grateful for your commitment to helping the SRF fund research that will result in improved therapies and, ultimately, a cure.

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