A primary goal of our research is to develop genome sequencing into a useful diagnostic tool in the management of infertility. This requires a knowledgebase of bona fide infertility genes and disease-causing variants.
In partnership with Dr. Ki Aston of the University of Utah, we organized an international consortium to identify genetic causes of male infertility, GEMINI, consisting of a dozen PIs on four continents, who collectively see over 15,000 patients a year. Funded by a grant from the NIH, we have recruited over 3,000 subjects into the GEMINI study since 2014.
We pursue interesting findings in the laboratory using experiments in cell lines and animals. We also apply the same experimental tools to study the genomics of healthy reproduction in mammals.
Identification and characterization of localized protein translation in Sertoli cells. Investigation of potential molecules involved in this process and its importance for SC homeostasis.
The Conrad Lab has a long track record of participation in large-scale international consortia mapping the location and consequences of human variation, such as the Structural Variation Consortium, 1000 Genomes Project and the Genotype Tissue Expression Project (GTEx).
As part of GTEx we developed methods for studying the functional impact of CNVs on gene expression, methods to formally evaluate the statistical significance of mutations identified in n=1 cases of disease, and are currently using the GTEx resource to make full-body maps of somatic mutations.
Part of the Developmental Genotype-Tissue Expression (dGTEx) Project, NHP dGTEx focuses on non-human primates and is a collaboration with MIT, the Broad Institute and Yale University. The goal is to study developmental gene expression patterns in two species of non-human primates: Macaca mulatta (rhesus macaque), an Old World monkey, and Callithrix jacchus (common marmoset), a New World monkey. These patterns will be compared to human patterns to help inform interpretation of the data in humans and gain greater insight about the similarities and differences in gene expression during primate development more generally.
In addition to being the project lead, the Conrad Lab is specifically involved in tissue collection from macaques as well as providing pathology and genomics analyses.
The Marmoset Coordinating Center (MCC) was established in 2020 as part of the BRAIN initiative to develop a national resource for investigators utilizing marmosets for their research in the field of neuroscience.
The first main goal of the MCC is to coordinate information sharing among marmoset colonies by developing a digital repository for genomic, pedigree, and event records for captive marmosets. The MCC uses this information to assist colonies that have marmosets to improve the health and genetic diversity of the entire marmoset colony.
The second main goal of the MCC is to provide information and support to neuroscience investigators who are interested in using marmosets in their research programs. The MCC serves as the centralized resource to manage requests for marmosets from the entire US neuroscience research community.
To facilitate high-throughput studies of the testis, the lab has developed, SATINN, a computational tool to automate mouse testis histology classification and quantification. Current directions include developing a mouse mutant histology atlas, extending SATINN functionality to other model organisms (e.g. rat, non-human primates, human), and integration of spatial omics data with image classification machine learning models.