- Human Biospecimens
- For Researchers
- For Biospecimen Contributors
- For Patients
May 7, 2015
For centuries, physicians had no way of knowing why the human body reacted certain ways to specific treatments. Fast forward to today and scientists are making breakthroughs every day on how specific individuals will respond to treatments through personalized medicine and research. From the discovery of biomarkers that will help predict the risk of debilitating conditions to expressions in gene arrays that help guide treatments, genetic research is a hotbed of activity that does not show any signs of slowing soon. Through cutting-edge research studying discrete individuals’ human biospecimens, we are learning more and more about how to target therapeutics based on people’s specific genetic makeups.
Check out this week’s biomarker roundup.
1. VILIP-1 in CSF an Early Predictor of Alzheimer’s
Among the cadre of age-related degenerative conditions, none may have a higher profile than Alzheimer’s disease. According to Alzheimers.net, more than 44 million people around the world live with the condition or a related dementia, with more than $226 billion allocated to Alzheimer’s care in the U.S. alone. At going rates, the source estimated that by 2050 more than 16 million Americans will have the condition as compared to 5.3 million today.
Curbing the prevalence of Alzheimer’s disease could now be in sight based on the findings of a study on Alzheimer’s-related biomarkers conducted by researchers at Washington University in St. Louis and published in JAMA Neurology. Though clinicians often have to wait until symptoms of neuronal decline present themselves in patients, the presence of a protein, VILIP-1, in cerebrospinal fluid (CSF) may help physicians identify the early warning signs of the disease before serious damage occurs.
David Holtzman, M.D., professor of neurology at the Washington University School of Medicine and lead author of the study, performed a longitudinal observation of the progression of neuronal atrophy in 23 individuals diagnosed with Alzheimer’s. Over the course of two to three years, Holtzman performed baseline and follow-up tests on the patients.
Holtzman found that in both groups, the presence of VILIP-1 in CSF was associated with neuronal damage. The authors explained that screening for biomarkers like VILIP-1 in Alzheimer’s patients may provide an earlier diagnostic method of brain atrophy than traditional measures of scanning for brain volume loss.
2. Biomarker May Help Distinguish Fibromyalgia from Types of Arthritis
Despite the incredible advances of modern medicine, there are still some diseases that continue to elude the grasp of researchers. Fibromyalgia is one of those wide-ranging conditions that cause widespread pain without a clear cause. However, the symptoms of fibromyalgia can mirror those of arthritic conditions such as rheumatoid arthritis and spondyloarthritis, making it harder for clinicians to understand and treat the disease.
However, there might be hope for the estimated 5 million Americans living with fibromyalgia. According to a recent study conducted by researchers at Japan’s Hokkaido University and published in the journal PLOS One, genetic researchers may be able to differentiate fibromyalgia from symptomatically similar conditions through the antigens on the surface of mucosal-associated invariant T (MAIT) cells.
The researchers used peripheral blood mononuclear cells (PBMCs) from patient-provided samples to examine the topography of MAIT cells. Depending on the surface receptors, MAIT cells can indicate which of the three closely related conditions is actually present in patients, thereby accelerating the diagnosis and commencement of proper treatment.
3. Biomarker Assay Reveals Lupus’ Interferon Signature
Continuing a trend of providing new insight into previously enigmatic diseases, genetic research has uncovered yet another pivotal collection of biomarkers – this time associated with systemic lupus erythematosus (SLE).
Approximately 1.5 million Americans live with SLE and there may be many more. The exact cause of SLE remains unknown and treating it has its challenges. Researchers from Genentech and the University of Michigan recently published a study in the journal LUPUS Science & Medicine that looked at possible genetic drivers of treatment response.
Through microarray analysis of blood samples, the researchers identified genetic differences in the interferon signature (IS) of patients with SLE. The IS is composed of more than 100 genes. Through their interferon signatures, patients were categorized as either ISM high or ISM low (interferon signature metric) and scientists were able to discern that these differences could help in understanding treatment response based on a patient’s ISM category.
4. Colorectal Cancer Treatments Can be Streamlined
According to the National Cancer Institute, colorectal cancer (CRC) is the second-leading cause of cancer-related deaths in the U.S. According to the Centers for Disease Control and Prevention, more than 135,000 people were diagnosed in 2011 alone, with as many as 37 percent of patients dying from their conditions.
Perfecting treatments for colorectal cancer patients is of the utmost concern, which is why researchers from Insilico Medicine and Champions Oncology published a study in the journal Human Genome Variation detailing the biomarker that may help guide CRC treatments with the popular drug cetuximab.
While cetuximab does help many patients, not all types of CRC tumors respond to it. For example, K-ras wild-type tumors only respond to cetuximab between 40 and 60 percent of the time. Based on transcriptomic data of tumor samples, the researchers tested the pathway activation strength (PAS) biomarker of patients with CRC to reliably predict response to cetuximab. PAS values were found to be a predictor of cetuximab sensitivity.
Because so many CRC patients begin treatment too late, this faster method of determining response to potentially effective medications can help physicians start positive interventions faster or move on to other alternatives if it is known that a patient will likely not respond. This discovery in CRC patients may help cut into the mortality figures of this deadly disease if treatments can be tailored more appropriately based on biomarkers.