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

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, pretest 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.