Local health institute selected for national project

Special to The Freeman

Sept. 29, 2014

MILWAUKEE – The Human and Molecular Genetics Center at the Medical College of Wisconsin, in collaboration with Illumina, is selected as one of two National Institutes of Health genomic sequencing sites for the Undiagnosed Disease Network.

This network was created to use DNA sequencing and other strategies to advance laboratory and clinical research as well as aid in the diagnosis and treatment of patients with rare diseases.

Howard J. Jacob, Ph.D., the professor of genetics at the medical college and director of the project, is the primary investigator on the four-year $2.5 million grant.

Tina Hambuch, Ph.D., a clinical director at Illumina, is co-primary investigator, along with Elizabeth Worthey, Ph.D., assistant professor of pediatrics and director of genomic informatics at the medical college.

The Undiagnosed Disease Network identified six clinical sites in summer 2014 in which patients with rare disease will be identified for genetic sequencing.

The genetics center at the medical college is tasked with performing whole genome sequencing on 1,650 patients and family members referred by those sites, over the period of four years.

Illumina’s role as an industry collaborator will be to develop protocols, algorithms, quality improvements and to act as a partner in streamlining the sequencing process.