Research

Several of our studies aim to discover new and accurate ways to classify the disease, identify patients who are at high risk of complications such as kidney, lung, or heart involvement, and predict how patients may respond to specific treatments. This approach, often called "personalized medicine," relies on detailed evaluation of the proteins and molecules present in blood samples or in skin biopsies.

In another multi-center project, we are looking at factors that identify patients with scleroderma who might be developing pulmonary hypertension. It is thought that early recognition would allow early intervention, more effective control of symptoms, and prevention of progressive complications.

Yet other studies involve examination of your genetic structure in order to pinpoint genes or genetic regions that might be predisposing to the development of scleroderma or its specific complications. It is hoped that these studies will lead us to the discovery of patterns of proteins or genes whose presence allows your doctor to select the most effective and safest treatment for your condition.

Innovative treatments for many complications of scleroderma are evaluated in clinical trials. Current trials include treatments to prevent or control finger ulcers, skin tightening, pulmonary hypertension, lung fibrosis, and unintentional weight loss associated with scleroderma.

Much of our on-going research focuses on the discovery and validation of novel targets for the treatment of scleroderma. By analyzing skin biopsies, blood cells, serum, RNA and genetic material from scleroderma patients and healthy controls, we identify proteins and pathways that are present at abnormal levels, or show disordered function, in people with scleroderma. We then characterize these alterations, and using already-existing drugs, or novel compounds, determine if modulating these alterations is beneficial for the disease process.

These "translational" studies combine cell-based experiments with studies using models of human skin, and in normal and genetically-engineered mice. Once we gain a handle on whether such interventions can halt the disease process in "pre-clinical models", we partner with collaborators, including those from the pharma and biotech industry, to develop them into treatments for scleroderma. We aim to move our laboratory discoveries into the clinic. Seamless and efficient integration of laboratory and clinical research requires the coordinated efforts of teams of scientists with expertise in cell biology, molecular biology, genetic engineering, genetics, informatics, and clinical trials. The Northwestern Scleroderma Program brings together such individuals working toward a shared goal of improving the treatment and prevention of scleroderma.