- Human Biospecimens
- For Researchers
- For Biospecimen Contributors
- For Patients
November 18, 2014
Many human diseases are the result of abnormal or mutated gene variants. Researchers who try to develop new treatments for these diseases may sequence the genome, pinpoint the variants and formulate drugs that target proteins and cells that are impacted by those genes. Even among individuals who have the same disease, these genetic profiles can differ, a fact that underscores the need for personalized medicine that tailors treatment to the level of the patient.
When it comes to gastrointestinal disorders, a growing number of researchers are realizing there is one variable that may deserve more attention: the gut microbiome. Examples of why the microbiome is important to study can be found within the context of celiac disease research, as reported by the American Association for Clinical Chemistry.
'We need validated biomarkers'
Experts from the Center for Celiac Research at Massachusetts General Hospital for Children in Boston told the news source that celiac disease is clearly the result of both genetic variants and environmental triggers. However, clinical experience with individuals who did not develop celiac disease until later in life suggested that there had been one other factor that researchers had failed to take into account.
In 2012, the researchers published the results of a small study that used babies who were genetically at risk for celiac disease. With the help of pyrosequencing, a quantitative polymerase chain reaction assay, and 1H-nuclear magnetic resonance spectroscopy, the team gained a better understanding of how microorganisms colonize the gut. During an experiment in which gluten was fed to babies at either 1 year of age or between 6 and 8 months of age, the scientists observed that the immune response to gluten was weaker among those who consumed it at a later age. Laboratory tests showed that the microbiome population varied among the babies at different ages.
Subsequent studies conducted by other research teams showed that there were associations between genetic profiles, environment and microbiome composition. Because the combination of these factors may be unique at the level of the individual patients, scientists need to find suitable biomarkers that can point them in the direction of personalized treatment.
"The lab would be of monumental importance," Alessio Fasano, M.D., director of the Mucosal Immunology and Biology Research Center, and of the Center for Celiac Research, told the news source. "We need validated biomarkers that enable the lab folks to say, 'This individual gets to the final destination through this route, and therefore, needs to be managed this way.' These validated tests would all be in the lab, and they would not just be supportive, but instrumental, to decide the therapeutic approach."
Studies go beyond celiac disease
The federal government is also taking a great interest in microbiome research through the NIH Common Fund Human Microbiome Project, which had the goal of studying the human microbiome and its link to disease more closely. The advances in this research are attributable in part to DNA sequencing technology that drives metagenomics. This modality allows the sequencing of microorganisms by taking samples directly from the microbial community, rather than from cultures that take time to be cultivated.