Dr. Stephan Schürer Enlisted for Important Genome Research Project

The Molecular Phenotypes of Null Alleles in Cells program seeks to identify the purpose behind every gene.

Stephan Schürer, Ph.D., a researcher with Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine, will be the lead investigator on a $7.5 million grant from the National Human Genome Research Institute’s (NHGRI’s) Molecular Phenotypes of Null Alleles in Cells (MorPhiC) program, a comprehensive effort to understand the function of every human gene.

Dr. Schürer’s team will include researchers from the University of Miami, the European Bioinformatics Institutes, Queen Mary University, and the University of Washington. The group will build the MorPhiC Data Resource and Administrative Coordinating Center at the University of Miami Miller School of Medicine. This will be one of five such centers around the country being developed during the program’s first phase.

“Twenty years ago, the Human Genome Project provided the first human reference genome and identified almost every gene in the body,” said Dr. Schürer, who is professor in the Department of Molecular and Cellular Pharmacology and program director of digital drug discovery at the University of Miami Institute for Data Science and Computing. “But that was just the first step; researchers still have to determine what each gene does in the body.”

The MorPhiC program seeks to bridge the gap between simple, less informative models, such as cell lines, and more complex but poorly scalable animal models. The goal is to understand what happens when genes stop working, a major dysfunction in many diseases.

Functions of Thousands of Genes Still Unknown

Currently, around 6,000 of the estimated 19,000 protein-coding genes in the human genome are not completely understood. MorPhiC seeks to fill these knowledge gaps, illuminate some of the root causes of disease and catalyze efforts to develop new therapies.

Cataloguing the functions of all human genes will be a challenging project. Many genes have more than one function and behave differently based on cell type and environmental conditions. In addition, many traits combine multiple genes, and other factors, such as age, can modulate function.

“The function of thousands of genes is still a mystery, and they likely serve vital biological roles,” said Colin Fletcher, Ph.D., NHGRI’s program director in the Division of Genome Sciences. “Understanding fundamental biology can help us figure out why certain diseases occur and how we can develop drugs to target and treat those diseases.”

FAIR Data from MorPhiC May Lead to Better Treatments for Many Diseases

MorPhiC is a five-year, $42.5 million project. Phase 1 will focus on 1,000 protein-coding genes; exploring different ways to knock out gene function; developing better human tissue models; creating molecular and cellular systems that model multiple human tissues and developmental stages; and developing reproducible methods to catalogue gene function.

MorPhiC will produce massive amounts of data, and it will be up to the University of Miami-led Data Resource and Administrative Coordinating Center to develop the infrastructure that will store, disseminate, and analyze that information. In addition to administering the consortium, the center will make the data findable, accessible, interoperable, and reusable (FAIR).

“FAIR data is a key objective in data science in general to make data most useful and valuable for the community,” said the University’s senior scientist Dusica Vidovic, Ph.D., who will direct data standards and metadata for the MorPhiC Consortium.

MorPhiC will hopefully provide important data that could lead to better treatments for multiple diseases. Dr. Schürer’s group has already hit the ground running, having kicked off the project at a recent meeting in Washington, D.C.

“The program will be developing novel ways to differentiate between data and knowledge,” said Dr. Schürer. “Data on its own is not particularly useful. It needs context, and we need to collect and organize extensive metadata from the consortium. Once we take in the larger picture, the data will become most useful to the wider community, and we can begin to understand the function of thousands of genes.”

Tags: Data Resource and Administrative Coordinating Center, Department of Molecular and Cellular Pharmacology, Dr. Stephan Schürer, genome research, IDSC, Institute for Data Science and Computing, MorPhiC, National Human Genome Research Institute, Sylvester Comprehensive Cancer Center