Rajalaxmi Natarajan, Ph.D.
May 11th, 2017
Researchers at the Jan and Dan Duncan Neurological ResearchInstitute (NRI) at Texas Children's Hospital have created a very
useful open-access, user-friendly web resource, MARRVEL (Model
Resource for Rare
ExpLoration) that will help
biomedical researchers speed up their pace of scientific
MARRVEL resulted from a large collaborative effort led by
Drs. Hugo J. Bellen and Zhandong Liu, who are
also faculty at the Baylor College of Medicine, Dr. Norbert
Perrimon, professor at Harvard University and others. A paper
describing this initiative has been published in the American Journal of Human Genetics journal.
Researchers involved in this study anticipate that by
aggregating a large volume of existing knowledge about human genes
and data obtained from decades of experimentation on homologous
genes in diverse model organisms, MARRVEL will act as a 'one-stop
shop' for biologists and clinical geneticists to get latest
information on their 'gene-of-interest'.
Instead of spending numerous days combing through dozens of
highly specialized databases to collate and piece together relevant
information about a particular gene, biomedical researchers and
physicians, will now be able to access all the available biological
and clinical information about a gene and its variants rapidly and
conveniently in a single webpage.
"This study is a perfect example of the power of
interdisciplinary collaborations. When experts from completely
different fields collaborate (fruit fly biologists, human
geneticists and bioinformaticians, in this case), we can create
something powerful like MARRVEL, that will benefit the entire
scientific community. We are very excited to have created an online
tool that will speed up the time-consuming process of gene
discovery, especially for rare and undiagnosed diseases", said Dr.
Liu, a lead author of the study.
To create MARRVEL, the authors integrated and annotated
information from six human genetic and seven common model organism
databases including fruit fly, fish, mouse, rat, worms and yeast.
Using MARRVEL, scientists and physicians can quickly get up to
speed on the existing literature for their favorite gene, which
will help them quickly decide and plan the next course of
"The impetus to develop MARRVEL came out of a practical need.
Our lab is a part of the Model Organisms Screening Center for the
Undiagnosed Disease Network (UDN), a national
multi-center program that uses model organisms to solve 'medical
mysteries' - cases where despite extensive testing, physicians are
unable to find a molecular cause to explain a patient's symptoms.
To crack these cases, we usually perform detailed functional
analyses in model organisms such as fruit flies and zebrafish.
However, before we can begin experimentation, we spend a lot of
valuable time gathering answers to a gamut of questions like - have
other researchers already observed that variants in this gene cause
disease? What is known about this gene? Where is it expressed, what
is its function? So, we decided to find a way to collate all this
knowledge in one location so that we (and other researchers) could
find all this information easily", said Julia Wang, a graduate
student in the Bellen lab and first author of the study.
In the paper, the authors provide a blueprint for how to employ
this new web resource to expedite research on many different
diseases. They revisited a
recent medical mystery and demonstrate how in such
situations, MARRVEL can offer valuable insights that will help
researchers to quickly hone in on disease-causing genes and