Leveraging Wealth of Genetic Knowledge to Improve Health

Researcher and consultant Sean Thomas, Ph.D.
Researcher and consultant Sean Thomas, Ph.D.

CTSI offers expert advice in next generation genome sequencing

By Kate Rauch

To help understand the genetic roots of common diseases, the breakthrough Human Genome Project pinpointed and mapped 20,000-25,000 genes of the human genome from both a physical and functional perspective. The project started in 1990 and was completed in 2003.

Building on this foundation, researchers are now utilizing the huge amounts of data generated by mapping, including applying techniques that look deeper intoDNAsequences to develop medical treatments. 

These “next-generation” genome sequencing technologies are rapidly evolving, and have the potential to dramatically accelerate biological and biomedical research. They utilize state-of-the-art computer software and equipment to better understand intricate gene behavior, such as how genes change over time, talk to each other, and interact with their environment—all of which influence cells and ultimately health.

Next-generation sequencing is critical to learning how all of this fits together - the three billion letters in our genome and cell types that are doing something different with that DNA.
Sean Thomas, Ph.D.

But for many investigators, navigating this new research can be a challenge. That’s where UCSF’s Clinical and Translational Science Institute (CTSI) comes in. Through its Consultation Services (CS) program, UCSF faculty and senior staff serve as consultants who provide a road map and expert advice to help other researchers harness the power of next generation sequencing (NGS) technologies.

“Our new next-generation DNAsequencing program is an important part of the bridge between data and applying that data to patient care,” says Mark Segal, PhD, Director of UCSF’s Center for Bioinformatics & Molecular Biostatistics.

Importantly, current next generation sequencing technologies are laying the groundwork for future platforms that will enable personal genomics and precision medicine, Segal says. In supporting this effort, CTSI’s CS program is having a transformative impact on basic and translational research.

Consultation services are open to researchers at all UCSF schools and affiliates, and the first hour of consultation is free.

“There is a lot of demand for this service,” says molecular and computational biologist Sean Thomas, Ph.D., from the UCSF-affiliated Gladstone Institute. An expert in advanced genomic analysis, Thomas’ research includes unveiling the genes that direct stem cells to grow into beating heart muscle.

“Every person has three billion letters in their genome, which is already a large amount of data. Now factor in that each cell type in your body is doing something different with thatDNA, so you need to deal with all of that as well. Next-generation sequencing is critical to learning how all of this fits together.” 

Get Expert Advice on Next-Generation Genome Sequencing

  • ChIP-seq: technique used to map theDNA binding propensity of a given protein across the entire genome.
  • RNA-seq: method of determining the levels of RNA in a population of cells.
  • Long range interactions: several techniques that allow researchers to identify regions of the genome that interact with each other from far away.

CTSI is a member of the National Institutes of Health-funded Clinical and Translational Science Awards network. Under the banner of "Accelerating Research to Improve Health," it provides a wide range of services for researchers, and promotes online collaboration and networking tools such as UCSF Profiles.