Baylor College of Medicine, Medical College of Wisconsin to conduct DNA sequencing for Undiagnosed Diseases Network
Additional UDN grants will fund studies to learn the role of gene variants in undiagnosed diseases
By Raymond MacDougall
Associate Director of Communications, Division of Intramural Research
- Baylor College of Medicine, $470,000 over two years
Principal Investigator: Brett H. Graham, M.D.
The study will entail cell culture and fruit fly experiments through which researchers will develop a pipeline of models for disease-causing mutations in a broad range of human genes.
- Johns Hopkins University, $486,000 over two years
Principal Investigator: Paul F. Worley, M.D.
Researchers will characterize the function of a mutation in the FRMPD4/Preso1 gene that is thought to be responsible for neurological symptoms in two UDP patients. The investigation will use a mouse model of the gene mutation as well as cell culture studies.
- University of California Los Angeles, $462,000 over two years
Principal Investigator: Shuo Lin, Ph.D.
By developing a zebrafish model of undiagnosed disease genes, researchers will provide a system through which such genes can be functionally characterized. The researchers will make observations of the outcome in zebrafish from inserting mutations in genes that have a parallel with human disease.
- University of Iowa, $340,000 over two years
Principal Investigator: Diane Slusarski, Ph.D.
Researchers will use a zebrafish model to explore the function of 15 gene mutations associated with epilepsy.
- University of Michigan, $467,000 over two years
Principal Investigator: Anthony Antonellis, Ph.D.
Using a zebrafish model, researchers will evaluate the role that six gene variants play in loss of function of the gene that codes for the aminoacyl-tRNA synthetase enzyme. Changes in these genes have been identified in patients in the UDP Program.
- Vanderbilt University, $432,000 over two years
Principal Investigator: Wenbiao Chen, Ph.D.
Researchers will establish a pipeline for functional analysis, drug discovery, and pathway identification of UDP-identified genes that can be studied in zebrafish.