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

Screening for PAH in Systemic Sclerosis: Does It Matter?

Author: Kevin Deane, MD
Date Published: February-2012
Source: Medscape Today

ulmonary arterial hypertension (PAH) is a leading cause of mortality in patients with systemic sclerosis (SSc).[1] Once commonly thought to be a late complication of SSc, support for PAH as an early manifestation of disease is growing. PAH is present within 5 years of the onset of the first non-Raynaud symptoms of SSc in approximately 50% of patients.

Stimulation of soluble guanylate cyclase reduces experimental dermal fibrosis

Author: C. Beyer, N. Reich, S. Schindler, et al
Date Published: January-2012
Source: Annals of the Rheumatic Diseases

Fibrosis and vascular disease are cardinal features of systemic sclerosis (SSc). Stimulators of soluble guanylate cyclase (sGC) are vasoactive drugs that are currently being evaluated in phase III clinical trials for pulmonary arterial hypertension.

Emerging patterns of genetic overlap across autoimmune disorders.

Author: Richard-Miceli C, Criswell LA.
Date Published: January-2012
Source: Genome Medicine

Most of the recently identified autoimmunity loci are shared among multiple autoimmune diseases. The pattern of genetic association with autoimmune phenotypes varies, suggesting that certain subgroups of autoimmune diseases are likely to share etiological similarities and underlying mechanisms of disease.

Gender and ethnicity differences in the prevalence of scleroderma-related autoantibodies.

Author: Krzyszczak ME, Li Y, Ross SJ, et al
Date Published: October-2011
Source: Journal of Cellular and Molecular Medicine

Autoantibodies to topoisomerase I (topo I), RNA polymerase III (RNAPIII), centromere, U3RNP/fibrillarin, Th, PM-Scl, and U1RNP found in scleroderma (SSc) are associated with unique clinical subsets. The effects of race and gender on autoantibody prevalence and clinical manifestations were examined.

Elevated expression of cav-1 in a subset of SSc fibroblasts contributes to constitutive Alk1/Smad1 activation.

Author: Haines P, Hant FN, Lafyatis R, Trojanowska M, Bujor AM.
Date Published: January-2012
Source: Journal of Cellular and Molecular Medicine

Previous studies have shown that the TGFβ/Alk1/Smad1 signaling pathway is constitutively activated in a subset of systemic sclerosis (SSc) fibroblasts and this pathway is a critical regulator of CCN2 gene expression. Caveolin-1 (cav-1), an integral membrane protein and the main component of caveolae, has also been implicated in SSc pathogenesis.

News for Patients

Screening for PAH in Systemic Sclerosis: Does It Matter?

Author: Kevin Deane, MD
Date Published: February-2012
Source: Medscape Today

ulmonary arterial hypertension (PAH) is a leading cause of mortality in patients with systemic sclerosis (SSc).[1] Once commonly thought to be a late complication of SSc, support for PAH as an early manifestation of disease is growing. PAH is present within 5 years of the onset of the first non-Raynaud symptoms of SSc in approximately 50% of patients.

Emerging patterns of genetic overlap across autoimmune disorders.

Author: Richard-Miceli C, Criswell LA.
Date Published: January-2012
Source: Genome Medicine

Most of the recently identified autoimmunity loci are shared among multiple autoimmune diseases. The pattern of genetic association with autoimmune phenotypes varies, suggesting that certain subgroups of autoimmune diseases are likely to share etiological similarities and underlying mechanisms of disease.

An Evaluation of Long-Term Survival From Time of Diagnosis in Pulmonary Arterial Hypertension From REVEAL.

Author: Benza RL, Miller DP, Barst RJ, et al
Date Published: January-2012
Source: Chest

The Registry to EValuate Early And Long-Term Pulmonary Arterial Hypertension Disease Management (REVEAL) was established to characterize the clinical course, treatment, and predictors of outcomes in patients with pulmonary arterial hypertension (PAH) in the US. To date, estimated survival based on time of patient enrollment has been established and reported.

Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: association with the functional IRAK1 196Phe/532Ser haplotype.

Author: Dieudé P, Bouaziz M, Guedj M, et al
Date Published: December-2011
Source: Arthritis & Rheumatism

Several autoimmune disorders, including systemic sclerosis (SSc), are characterized by a strong sex bias. To date, it is not known whether genes on the sex chromosomes influence SSc susceptibility. Recently, an IRAK1 haplotype that contains the 196Phe functional variant (rs1059702), located on Xq28, was found to confer susceptibility to systemic lupus erythematosus (SLE).

Mechanism, Potential Therapy for Scleroderma Lung Disease Uncovered

Author: NIAMS / Tourkina E, et al
Date Published: January-2012
Source: NIAMS Spotlight on Research 2012

Investigators, partially supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases, have found that a deficiency in the protein caveolin-1 (cav-1) is linked to the development of interstitial lung disease, the scarring of lung tissue that causes disability and death in people with scleroderma.

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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