Dr. Malfait said that, so far, she hasn’t found many whole-genome or whole-exome sequencing studies for rheumatic diseases. “However, I am convinced that in the coming years, … novel disease genes will be identified through these studies,” she said.
Tracking Protein Fingerprints
In another presentation, Anne-Christine Bay-Jensen, MSc, PhD, the head of Rheumatology for Nordic Bioscience, a biotech company in Denmark, talked about the emergence of “protein fingerprints,” a kind of biomarker that can help treatment strategies in rheumatology.
Protein fingerprints end up in the serum as a result of downstream inflammatory signaling—pathological enzymes are generated, causing the release of small but tissue-specific protein fragments that can be used as biochemical markers, Dr. Bay-Jensen said.
Use of these markers might help make up for deficiencies in the use of more traditional biomarkers, such as cytokines. Cytokines can often be nonspecific and can cause changes that are due to the total load of many types of cytokines, rather than due to a specific type.
Research has found correlations between these protein fingerprints and efficacy of treatment. In one study, they looked at a combination of protein fingerprints—C3M, CRPM, MMP3, C1M, and C2M—in RA patients on tocilizumab to try to identify responders and nonresponders (Bay-Jensen et al, submitted for publication).
Once the patient population was retailored, based on the protein fingerprints, the response rate for the group rose from 27% to 54%.
“This is what we want to know,” Dr. Bay-Jensen said. “We want to select the right treatment for the right patient.”
Thomas Collins is a freelance medical writer based in Florida.
