Children’s Hospital of Wisconsin receives grant to help diagnose and treat patients with rare disorders

February 12, 2014
MILWAUKEE  – Children’s Hospital of Wisconsin has been awarded a $1 million grant from the W.M. Keck Foundation in Los Angeles to support genetic research and testing. A team of researchers and physicians from Children’s Hospital and the Medical College of Wisconsin (MCW) will develop a test system using gene editing to generate and functionally test the variant of interest. The goal is to develop a test to rapidly help diagnose patients and treat rare disorders, and build a system that can be used by other laboratories. Howard Jacob, PhD, Warren P. Knowles Professor of Genetics and director of the Human and Molecular Genetics Center at MCW will head the project.

 “Cumulatively, we know the total number of rare or undiagnosed patients is quite large. When we understand more about variants of uncertain significance, we will be able to end the diagnostic odyssey for so many,” said David Dimmock, MD, pediatric genetic specialist, Children’s Hospital of Wisconsin; associate professor of pediatric genetics at MCW; and co-investigator for the 3-year project. The Genomic Medicine Clinic at Children's Hospital of Wisconsin works in collaboration with the Human and Molecular Genetics Center at MCW. The clinic provides medical evaluations, pre-test genetic counseling and education, next-gen sequencing, counseling and educations around the results of the genomic sequence, and treatment planning to individuals with unidentified complex health problems believed to be genetically linked.

“Strategies that currently exist to turn those ‘maybe’ diagnoses into ‘yeses’ can be timely and cumbersome, particularly when patients need answers more quickly, perhaps, than science can provide. This project creates a new strategy to more efficaciously evaluate those gene mutations suspected to be responsible for disease, so that we may provide critical answers to patients and their families,” said Dr. Jacob.

About Children’s Hospital of Wisconsin
Children’s Hospital of Wisconsin is the region’s only independent health care system dedicated solely to the health and well-being of children. The hospital, with locations in Milwaukee and Neenah, Wis., is recognized as one of the leading pediatric health care centers in the United States. It is ranked No. 4 in the nation by Parents magazine and ranked in 9 specialty areas in U.S. News & World Report’s 2013-14 Best Children’s Hospitals report. Children’s Hospital provides primary care, specialty care, urgent care, emergency care, community health services, foster and adoption services, child and family counseling, child advocacy services and family resource centers. In 2012, Children’s Hospital invested more than $117 million in the community to improve the health status of children through medical care, advocacy, education and pediatric medical research. Children’s Hospital achieves its mission in part through donations from individuals, corporations and foundations and is proud to be a member of Children’s Miracle Network Hospitals. For more information, visit the website at

About the Medical College of Wisconsin
The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school.  Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and community engagement.  More than 1,200 students are enrolled in the Medical College’s medical school and graduate school programs in Milwaukee.  New regional medical education campuses are opening in Green Bay in 2015, and in Central Wisconsin in 2016, with each recruiting initial classes of 15-20 students.  A major national research center, MCW is the largest research institution in the Milwaukee metro area and second largest in Wisconsin.  In FY 2012-13, faculty received approximately $160 million in external support for research, teaching, training and related purposes, of which approximately $144 million is for research.  This total includes highly competitive research and training awards from the National Institutes of Health (NIH).  Annually, College faculty direct or collaborate on more than 2,000 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 425,000 patients annually.