Inherited Diseases of Children and Adults Program
We are on a mission to develop the technology and approaches needed to interpret everyone’s genetic code. Currently, most genetic differences lack a medical or biological interpretation. Therefore, collaborating with national and international researchers, clinicians, patients, and students, the Mellowes Center seeks to advance multidisciplinary research, leveraging structural and functional genomics, structural bioinformatics, and epigenetics to discover the pivotal role that specific genes have in the pathobiology of rare diseases. Evidenced by an extensive publication record, our integrative and holistic approach sets our program apart and shapes the future of genomic data interpretation.
The Mellowes Center, through its partnership with the Children’s Wisconsin-MCW Undiagnosed and Rare Disease Program, is a National Organization of Rare Disorders (NORD) Rare Disease Center of Excellence. We connect to Children’s Wisconsin Quantitative Health Sciences via our Director of Child Health Bioinformatics. Regionally, this program connects with multiple Midwest institutions to form a rare disease research federation. Finally, our faculty partner with physicians and researchers around the world to explore diverse patient cases and offer ‘Omics and Bioinformatics services to researchers through our shared resource units.
Program Faculty
Donald G. Basel, MD
Section Chief and Professor, Pediatrics (Genetics); Associate Director, Undiagnosed & Rare Diseases, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine; Medical Director, Genetics Center, Children’s Wisconsin; Co-program Director, Neurofibromatosis and RASopathy, Children's Wisconsin
Jing Dong, PhD
Assistant Professor
Angela J. Mathison, PhD
Assistant Professor, Department of Surgery; Technology Development Director, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine
Brian Smith, PhD
Associate Director, Program in Chemical Biology; Associate Professor, Biochemistry
Raul A. Urrutia, MD
Professor, Department of Surgery; Director, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine
James Verbsky, MD, PhD
Professor, Pediatrics (Rheumatology) and Microbiology & Immunology; Medical Director, Clinical Immunology Research Laboratory; Medical Director, Clinical and Translational Research
Brian F. Volkman, PhD
Director, Program in Chemical Biology; Professor, Biochemistry
Michael T. Zimmermann, PhD
Director, Bioinformatics Research and Development Lab, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine
Inherited Diseases Sample Publications
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation. Haque N, Kawai T, Ratnasinghe BD, Wagenknecht JB, Urrutia R, Notarangelo LD, Zimmermann MT. iScience. 2023 Sep 27;26(10):108040. doi: 10.1016/j.isci.2023.108040. eCollection 2023 Oct 20.PMID: 37854700
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Cousin MA, et al. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4.PMID: 35698242
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD. Blood. 2021 Sep 23;138(12):1019-1033. doi: 10.1182/blood.2020008629.PMID: 33876203