The HudsonAlpha Institute for Biotechnology will provide whole genome sequencing for the National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN). The core mission of the UDN is to diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose despite extensive clinical investigation.
The UDN is comprised of seven clinical sites and a coordinating center in addition to two sequencing centers: HudsonAlpha (in collaboration with Illumina) and Baylor College of Medicine.
The UDN mission aligns with HudsonAlpha’s commitment to utilizing the power of the human genome to improve human health.
“There are millions of people in the United States living with an undiagnosed genetic disease. The Undiagnosed Disease Program is a resource for families who are looking for answers. Through whole genome sequencing, we can provide answers and help direct better treatments for those families, as well as broadening our knowledge and understanding of rare disease,” said Howard J. Jacob, PhD, principal investigator and executive vice president for medical genomics at HudsonAlpha. “Drs. David Bick and Liz Worthey from HudsonAlpha, and Tina Hambuch from Illumina are co-PIs and bring a breadth of experience in the analysis of whole genome sequence. Sequencing will be carried out in the Clinical Sequencing Laboratory at HudsonAlpha under the direction of Dr. Shawn Levy.”
The HudsonAlpha/Illumina Sequencing core will sequence at least 1,600 genomes over the next 3 years. Partners at Baylor Sequencing Core will generate the same number of exomes (~1.5% of the genome). Both sites will generate clinical laboratory reports in conjunction with the clinical sites, while testing the relative utility of sequencing whole genome vs. exome (the current standard of next generation sequencing being used in the clinic). The HudsonAlpha/Illumina cores hypothesize that whole genome sequencing will increase the diagnostic success rate 25% more than exome sequencing.
The UDN sequencing center is supported by NIH grant U01 HG007493-02.
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a genomic science and applications nonprofit organization. It is both a high-volume genomic data producer serving hundreds of academic, clinical, and commercial clients’ needs and a global scientific collaborator valued for its genomic data analysis and interpretation to solve some of the most pressing questions in cancer, undiagnosed disease, neuro-psychiatric disorders, immune-mediated disease, agriculture, and public health. Its unique 152-acre campus melds the boundaries between nonprofit scientists, educators, and commercial business people so that collaboration sparks innovation and growth.
About National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visitwww.nih.gov.
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