The Center for Inherited Disease Research (CIDR) at Johns Hopkins University, which provides a range of services to genomics and genetics researchers, has been renewed by the National Institutes of Health with funding of up to $101.9 million over five years.
Established in 1996, CIDR is part of the McKusick-Nathans Institute of Genetic Medicine and it provides DNA genotyping and sequencing services and analytical expertise to support scientists around the country.
"CIDR's main goal is to support the genetics community – a large group of molecular geneticists and bioinformaticians – in their efforts to find genes that contribute to disease," David Valle, director of the Institute of Genetic Medicine at JHU, said in a statement. "We share our expertise with the Johns Hopkins community and offer fee-for-service access to our facility to all investigators," Valle said.
"The bulk of the contract support allows us to generate sequencing or genotyping datasets for an average of 30 large genetic studies per year," added Kimberly Doheny, CIDR's lead principal investigator. "A separate component of the contract supports the center's infrastructure, including the exploration of new technologies and the extensive IT infrastructure necessary to serve new data-intensive methods, like high-throughput genomic technologies."
CIDR was first funded with $72.5 million in 1996 and received another $69.1 million in 2007. The center also is funded through grants from the National Human Genome Research Institute's Genome-Wide Association Study Consortia and as a Center for Mendelian Genomics, and from 14 NIH institutes.
Investigators funded by those NIH institutes may apply for access to CIDR's services, which the supporting institute will pay for, and access to these services also is available on a fee-for-service basis through the Johns Hopkins Genetic Resources Core Facility.
CIDR currently offers GWAS and SNP genotyping services that use lab information management system tracking, robotic automation, and strict quality control standards.
The center also provides whole exome and custom targeted sequencing services, as well as analysis, and pilot studies are underway for whole genome sequencing.
"We definitely plan to start offering whole genome sequencing sometime in the near future," Doheny told GenomeWeb Daily News today, adding that the roll-out date for the new service has not been set yet but it will definitely be before the end of 2012.
Doheny said that CIDR may be looking at adding new sequencing technologies soon, including the Life Technologies Ion Proton System and Oxford Nanopore's system.
"We are funded to explore tech development, so we do try to get some of the new instruments in and work with them – not usually in the alpha or beta testing stages, but early in their adoption by the community," she said.
Doheny said CIDR is considering focusing mainly on whole genome sequencing over the next five years.
"In the past, our main business has been genotyping, and we are certainly not planning on dropping that. But if the techniques and the analysis methods change such that we can do what we are doing for genotyping using sequencing methods, that may well be where the technology is going – just transferring everything over to sequencing," she told GWDN.
Doheny also said that CIDR is likely to expand into clinical sequencing, and the center is now working to gain accreditation from the College of American Pathologists for next-generation sequencing so that it can support clinical research studies.