MARRVEL to the rescue: a novel web tool to expedite gene discovery

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 Organism Aggregated Resource for Rare Variant ExpLoration) that will help biomedical researchers speed up their pace of scientific discovery.

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 action.

"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 variants.