Helmsley Center for Genomic Medicine

Core Facilities

Salk Institute for Biological Studies - Helmsley Center for Genomic Medicine - Core Facilities

Core Facilities

The five HCGM Cores provide investigators with the resources and technical expertise to address the challenges laid out in the HCGM initiative. Cores provide investigators with the latest technology and state-of-the-art equipment, as well as highly skilled support staff, enabling them to effectively and efficiently perform experiments to ensure the maximal impact of this program on human health.

Genome Sequencing Core Facility

This core promotes advances in biology by providing researchers complete genomic solutions, with the latest and most complementary technologies readily available. The Genomics Core will provide services for high-throughput, next-generation sequencing of a wide range of applications, such as de novo genome sequencing, targeted re-sequencing, metagenomics, transcriptome profiling and epigenetic marker sequencing.

The core will assist HCGM Investigators with their project plans, helping them to achieve the most cost-effective and appropriate solutions with the available platforms. The Genomics Core will provide start-to-finish partnerships with investigators that include consultation, sample preparation, library construction, DNA sequencing, post-run quality control and bioinformatics solutions for data interpretation.

Metabolomics Core

Metabolomics is the systematic study of small-molecule metabolites in biological systems. The dysregulation of normal cellular processes associated with human diseases alters cellular metabolism, leaving telltale signs in the form of altered metabolite profiles. Thus, changes in metabolite profiles can be used to pinpoint aberrant molecular signaling and as markers for disease states. The mission of the Metabolomics Core is to provide HCGM-funded researchers with access to state-of-the-art analytical tools to perform large-scale metabolic profiling in normal and disease states.

Preclinical Mouse Models of Human Disease Core

The Preclinical Mouse Models of Human Disease Core provides HCGM Investigators the resources necessary to fully utilize mouse models of human chronic diseases. The rationale is that appropriate mouse models will allow for a level of investigation, including the rapid and efficient testing of multiple therapeutic measures, that is not possible with human subjects. Thus, the Preclinical Core provides and maintains specialty resources to evaluate mouse models of chronic disease with the goal of developing effective treatments for human chronic diseases.

Stem Cell Core

The Stem Cell Core Facility provides a complete suite of stem cell-based resources to enable discoveries with therapeutic potential for human diseases and disorders. Recent stem cell discoveries, especially reprogramming technologies, have had tremendous impact on our capacity to study chronic human diseases. The ability to take a simple patient biopsy and perform reprogramming to generate induced pluripotent stem cells (iPSCs) is a game-changing technology for many applications such as disease modeling, genetic correction and autologous cell-based therapies, among others. This core provides a centralized set of shared resources and services to support HCGM Investigators using human stem cell and reprogramming technologies. The experienced technical staff provides training on stem cell culture and differentiation techniques, performs a variety of reprogramming services for start-to- finish iPSC generation and provides consultation on experimental design and execution.

Therapeutic Development Resource Core

The Therapeutic Development Resource Core will advance the development of novel molecular targets identified by the HCGM Investigators through preclinical and early “proof-of-principle” trials. The core will assess and validate identified targets and coordinate the generation of lead compounds through contract medicinal chemistry services. This core will enhance the value of candidate therapeutics and accelerate their transition to the clinic.