UDN

Solving Medical Mysteries
Through Team Science

Funding Opportunities

Open Opportunities

There are no open funding opportunities at this time.

Closed Opportunities

Clinical Research Support Core Subawards – February 2026

Clinical Research Support Core Subawards – December 2024

Clinical Research Support Core Subawards – February 2024

Clinical Research Support Core Subawards – October 2023

Gene Function Studies – September 2020

Gene Function Studies – September 2019

Gene Function Studies – January 2019

Funded Projects
Institution(s)Principal Investigator(s)Project TitleProject Start Date
Baylor College of MedicineBrenden Lee, MD, PhD
Monika Weisz-Hubshman, MD, PhD
Functional characterization of KMT2B splice variant and its
association with early onset dystonia
December 1, 2025
Sanford HealthRachel Li, MDExpanding Access and Diagnostic Capabilities for the Undiagnosed Diseases Network at SanfordApril 1, 2025
University of California Los AngelesStanley Nelson, MD
UCLA Center of Excellence for the Undiagnosed
Diseases Network: Clinical Coordination and Data
Submission
April 1, 2025
University of Washington and Seattle Children's HospitalGail Jarvik, MD, PhD
Annelise Mah-Som, MD, PhD
Multi-omic analysis of peripheral blood leukocytes
for the diagnosis of Mendelian autoimmune
conditions in patient-parent trios
April 1, 2025
Vanderbilt UniversityLisa Bastarache, MS
Jenn Sucre, MD
Integrating Prenatal Exposure Assessment into the
Undiagnosed Disease Network: Advancing Diagnostic
Precision through Innovative Methods and Cohort
Analysis
April 1, 2025
Washington University St. LouisPatricia Dickson, MD
Jennifer Wambach, MD
Enhancing Diagnostic Success for UDN Participants through a Multi-omics ApproachApril 1, 2025
YaleVasilis Vasiliou, PhD
Yong-Hui Jiang, MD, PhD
Establishing an Exposomics Framework to Investigate the Role of
Environmental Factors in Undiagnosed Diseases
December 1, 2025
YaleVasilis Vasiliou, PhD
Yong-Hui Jiang, MD, PhD
Connecting the Human Exposome Database to Zebrafish Models for Undiagnosed Diseases (EXPOZ)December 1, 2025
Medical College of WisconsinDonald Basel, MDUDN DCoE clinical program support, Year 2April 1, 2024
Washington University in St. LouisPatricia Dickson, MDMulti-omics Approach to Increase Diagnostic Success for UDN ParticipantsApril 1, 2024
Baylor College of MedicineBrendan Lee, MD, PhDCharacterization of CD2 Cytoplasmic Tail Binding Protein 2 (CD2BP2) p.E253K in Cellular ProcessesApril 1, 2024
Baylor College of MedicineBrendan Lee, MD, PhDFunctional studies of ZNF331 and DPRX deletion and its association with a novel imprinted genetic disorderApril 1, 2024
University of California Los AngelesStanley Nelson, MDApplication of multi-ome long-read sequencing to unsolved UDN cases at the UCLA Clinical SiteApril 1, 2024
Indiana UniversityStephanie Ware, MD, PhDClinical Site Operations Support for Indiana Undiagnosed Rare Disease Clinic, Year 2April 1, 2024
Indiana UniversityStephanie Ware, MD, PhDClinical Site Operations Support for Indiana Undiagnosed Rare Disease Clinic, Year 1September 1, 2023
University of Washington and Seattle Children's HospitalGail Jarvik, MD, PhD (UDN site PI), Andrew B. Stergachis, MD, PhD (project PI)Application of Multi-Ome Long-Read Sequencing to Unsolved UDN CasesSeptember 1, 2023
University of Alabama at BirminghamBruce Korf, MD, PhDImproving Efficiency, Access, and Diversity of UAB UDP Patient EvaluationsSeptember 1, 2023
Regents of the University of California, Los AngelesStanley F. Nelson, MD, and Julian Martinez, MD, PhDGene Function Studies of Rare Variants in Nove L and Candidate Genes Associated With Mitochondrial FunctionSeptember 1, 2023
University of UtahLorenzo Botto, MD (UDN site PI), Jihyun Song, PhD (project PI)Primary and Secondary Erythrocytosis Caused by a Mutation in mRNA Cap Methyltransferase 1 (CMTR1)September 1, 2023
Vanderbilt UniversityRizwan Hamid, MD (UDN site PI), Lisa Bastarache, MS (project PI), and Rory Tinker, MD (project PI)Developing a bioinformatic pipeline to interpret variants of unknown significance within the UDN using BioVUSeptember 1, 2023
Medical College of WisconsinDonald Basel, MDUDN Clinical Research Support Core Year 1 SubawardSeptember 1, 2023
Washington University in St. LouisPatricia I. Dickson, MDLong-read RNA Sequencing to Increase Diagnostic SuccessSeptember 1, 2023
Baylor College of MedicineHugo J. Bellen, DVM, PhD and Scott Barish, PhDUncovering the molecular mechanisms of the chromatin remodeler BICRA in the nervous systemJuly 1, 2021
Monash UniversityRobert Bryson-Richardson, PhDIdentifying the mechanism of, and therapies for, UBA5 epileptic encephalopathy July 1, 2021
The Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc. and Massachusetts General HospitalTeresa Dunn, PhD and Florian Eichler, MDThe mechanistic basis of developmental delay due to mutations in SPTSSAJuly 1, 2021
Washington University in St. LouisLilianna Solnica-Krezel, PhDUsing zebrafish and human pluripotent stem cells to evaluate pathogenicity and define disease mechanisms for a ENY2 variant (p.K30Rfs*6)July 1, 2021
University of Alabama at BirminghamSummer Thyme, PhDUndiagnosed Diseases Network Gene Function Study NSD2July 1, 2021
Rutgers UniversityChing-On Wong, PhDDelineating the signaling pathways associated with a disease-causing gain-of-function CLCN7 variantJuly 1, 2021
The University of Texas MD Anderson Cancer CenterSwathi Arur, PhDTo understand the mechanism of action of the damaging DROSHA variant p.D1219G using C. elegansJuly 1, 2020
Baylor College of MedicineHugo J. Bellen, DVM, PhD Exploring the role of WDR37 in a neurological syndrome with striking similarities to Schuurs-Hoeijmakers syndromeJuly 1, 2020
Washington University in St. LouisJohn A. Cooper, MD, PhDUsing zebrafish as an animal model to evaluate pathogenicity and define disease mechanisms for a CARMIL3 variant (p.Gln928Glu)July 1, 2020
University of California DavisDaniel Starr, PhDA humanized C. elegans model to study KLC4 kinesin light
chain in disease
July 1, 2020
University of OregonMonte Westerfield, PhDUndiagnosed Diseases Network Gene Function Study PAPSS1July 1, 2020
Baylor College of MedicineShinya Yamamoto, PhDExploring the molecular mechanisms of Glutaminase-related neurological diseasesJuly 1, 2020
Baylor College of MedicineHugo J. Bellen, DVM, PhD Understanding the role of IRF2BPL in neurological diseaseJuly 1, 2019
Baylor College of MedicineLindsay Burrage, MD, PhDER stress in TANGO2-related metabolic encephalopathy and arrhythmiasJuly 1, 2019
University of IowaLori Wallrath, PhDMechanisms of TMEM43 muscle diseaseJuly 1, 2019
University of MichiganPaul C. Tang, MD, PhDElucidation of the Mechanism of Disease in a TAX1BP3 gene variant associated with human Arrhythmogenic Right Ventricular CardiomyopathyJuly 1, 2019
University of OregonMonte Westerfield, PhDUndiagnosed Diseases Network Gene Function Study MAST2July 1, 2019
Washington University in St. LouisKristen Kroll, PhDUsing human pluripotent stem cell models to evaluate pathogenicity and define
disease mechanisms for a ZNF292 variant found in a UDN participant
July 1, 2019

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