Funded Research

Metabolomics Core for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-015
PI Name Institution Name Title
LANZA, IAN R (contact) 
OGLESBEE, DEVIN 
MAYO CLINIC ROCHESTER Mayo Clinic Undiagnosed Disease Network Metabolomics Core

 

Sequencing Core(s) for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-016
PI Name Institution Name Title
ENG, CHRISTINE BAYLOR COLLEGE OF MEDICINE Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)

 

Model Organisms Screening Center for the Undiagnosed Diseases Network (UDN) Phase II (U54) RFA-RM-17-017
PI Name Institution Name Title
BELLEN, HUGO J BAYLOR COLLEGE OF MEDICINE Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish
SOLNICAKREZEL, LILIANNA (contact) 
SCHEDL, TIM
WASHINGTON UNIVERSITY Multi-organism platform for functional analysis of Undiagnosed Diseases Network (UDN) variants

 

Coordinating Center for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-018
PI Name Institution Name Title
KOHANE, ISAAC S. (contact) 
MCCRAY, ALEXA T. 
MIGHT, MATTHEW BRENDON
HARVARD MEDICAL SCHOOL Coordinating Center for the Undiagnosed Disease Network Phase II

 

Clinical Sites for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-019
PI Name Institution Name Title
ASHLEY, EUAN A (contact) 
BERNSTEIN, JONATHAN 
FISHER, PAUL GRAHAM 
WHEELER, MATTHEW THOMAS
STANFORD UNIVERSITY Center for Undiagnosed Diseases at Stanford
BOTTO, LORENZO DAVIDE UNIVERSITY OF UTAH Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN), Phase 2
COLE, FRANCIS SESSIONS WASHINGTON UNIVERSITY Washington University School of Medicine Undiagnosed Diseases Network Clinical Site
JARVIK, GAIL PAIRITZ (contact) 
DIPPLE, KATRINA M 
UNIVERSITY OF WASHINGTON Pacific Northwest Undiagnosed Diseases Network Clinical Site
LEE, BRENDAN BAYLOR COLLEGE OF MEDICINE BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)
LOSCALZO, JOSEPH  BRIGHAM AND WOMEN'S HOSPITAL Center for Integrated Approached to Undiagnosed Diseases
NELSON, STANLEY F. (contact) 
MARTINEZ, JULIAN ANTONIO 
PALMER, CHRISTINA GERMAINE
UNIVERSITY OF CALIFORNIA LOS ANGELES UCLA clinical site for the investigation of undiagnosed disorders
PHILLIPS III, JOHN ATLAS (contact) 
COGAN, JOY D 
HAMID, RIZWAN 
NEWMAN, JOHN HUGHES
VANDERBILT UNIVERSITY MEDICAL CENTER Vanderbilt Center for Undiagnosed Diseases (VCUD)
SHASHI, VANDANA (contact) 
GOLDSTEIN, DAVID B. 
DUKE UNIVERSITY An integrated and diverse genomic medicine program for undiagnosed diseases
SULLIVAN, KATHLEEN E (contact) 
PYERITZ, REED E
CHILDREN'S HOSP OF PHILADELPHIA Undiagnosed diseases network clinical site
TEKIN, MUSTAFA (contact) 
ZUCHNER, STEPHAN
UNIVERSITY OF MIAMI SCHOOL OF MEDICINE Exploring minorities The Undiagnosed Diseases Network Clinical Site of Miami

 

Undiagnosed Diseases Gene Function Research (R21)  RFA-RM-15-004
PI Name Institution Name Title
DELPIRE, ERIC J  VANDERBILT UNIVERSITY Molecular and Functional characterization of the first known human mutation of the SLC12A2 gene
HORI, RODERICK T (contact) 
LEDOUX, MARK S
UNIVERSITY OF TENNESSEE HEALTH SCI CTR The Role of UBTF in Undiagnosed Neurodevelopmental Disorders
PAN, YUCHIN ALBERT (contact) 
GONSALVEZ, GRAYDON
GEORGIA REGENTS UNIVERSITY USING CELL, FLY, AND ZEBRAFISH MODELS TO UNDERSTAND FAM109A GENE FUNCTION IN UNDIAGNOSED DISEASE
WALLINGFORD, JOHN B (contact) 
MARCOTTE, EDWARD M
UNIVERSITY OF TEXAS, AUSTIN Mechansims of Shroom2 function in development and disease
ZHAI, RONG GRACE UNIVERSITY OF MIAMI SCHOOL OF MEDICINE Functional Interaction of GBAS and SLC41A2 in Drosophila models for UDP_755

 

 

Metabolomics Core for the Undiagnosed Diseases Network (UDN) (U01) RFA-RM-15-001
PI Name Institution Name Title
METZ, THOMAS O (contact) 
KOELLER, DAVID M
BATTELLE PACIFIC NORTHWEST LABORATORIES Undiagnosed Diseases Network Metabolomics Core

 

Model Organisms Screening Center for the Undiagnosed Diseases Network (UDN) U54) RFA-RM-14-016
PI Name Institution Name Title
BELLEN, HUGO J. BAYLOR COLLEGE OF MEDICINE Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish

 

Undiagnosed Diseases Gene Function Research (R21) RFA-RM-14-005
PI Name Institution Name Title
HALL, RANDY A.  EMORY UNIVERSITY BAI2 mutation associated with a novel neurological disorder
HO, ANGELA  BOSTON UNIVERSITY (CHARLES RIVER CAMPUS) Role of FOXR1 in Mammalian Brain Development
SMITH, PETER G. UNIVERSITY OF KANSAS MEDICAL CENTER Role of a BHLHB9 polymorphism in the etiology of a developmental disorder 
WESTERFIELD, MONTE UNIVERSITY OF OREGON Genetic and functional analysis of YPEL3 and its link to disease 
YE, BING UNIVERSITY OF MICHIGAN The function of YPEL3 in the nervous system 
YU, EUGENE ROSWELL PARK CANCER INSTITUTE CORP Mutational analysis to understand the role of CHML in developmental regression 

 

DNA Sequencing Core for an Undiagnosed Diseases Network (UDN) (U01) RFA-RM-13-018
PI Name Institution Name Title
ENG, CHRISTINE BAYLOR COLLEGE OF MEDICINE Clinical Sequencing Core Facility for the Undiagnosed Diseases Network
JACOB, HOWARD J MEDICAL COLLEGE OF WISCONSIN Clinical Genome Wide Sequencing Core for the Undiagnosed Disease Network

 

Undiagnosed Diseases Gene Function Research (R21) RFA-RM-13-003
PI Name Institution Name Title
ANTONELLIS, ANTHONY UNIVERSITY OF MICHIGAN Analysis of tRNA Synthetase Variants in the Undiagnosed Diseases Program
CHEN, WENBIAO (contact)
PAGE-MCCAW, PATRICK SCHONLEBER
VANDERBILT UNIVERSITY A pipeline for rapid functional determination and drug discovery of UDP genes
GRAHAM, BRETT HARRISON BAYLOR COLLEGE OF MEDICINE Using cell and fly models to understand gene function in undiagnosed diseases
LIN, SHUO UNIVERSITY OF CALIFORNIA LOS ANGELES Study of Undiagnosed Diseases Genes in Zebrafish
SLUSARSKI, DIANE C (contact)
BASSUK, ALEXANDER G
UNIVERSITY OF IOWA Modeling human epilepsy in zebrafish
WORLEY, PAUL F (contact)
WANG, TAO
JOHNS HOPKINS UNIVERSITY Functional characterization of a FRMPD4 mutation in a UDP family
     

 

Clinical Sites for an Undiagnosed Diseases Network (UDN) (U01) RFA-RM-13-004
PI Name Institution Name Title
ASHLEY, EUAN A (contact)
BERNSTEIN, JON
FISHER, PAUL GRAHAM
STANFORD UNIVERSITY Stanford Center for Undiagnosed Diseases
LEE, BRENDAN HL BAYLOR COLLEGE OF MEDICINE BCM CLINICAL SITE FOR AN UNDIAGNOSED DISEASES NETWORK (UDN)
LOSCALZO, JOSEPH BRIGHAM AND WOMEN'S HOSP., INC. Center for Integrated Approaches to Undiagnosed Diseases
PHILLIPS III, JOHN ATLAS (contact)
NEWMAN, JOHN HUGHES
VANDERBILT UNIVERSITY MED CTR

Vanderbilt Center for Undiagnosed Diseases (VCUD)

SHASHI, VANDANA (contact)
GOLDSTEIN, DAVID B.
DUKE UNIVERSITY An integrated and diverse genomic medicine program for undiagnosed diseases
VILAIN, ERIC J (contact)
DIPPLE, KATRINA M.
NELSON, STANLEY F.
PALMER, CHRISTINA GERMAINE
UNIVERSITY OF CALIFORNIA LOS ANGELES UCLA clinical site for the investigation of undiagnosed disorders

 

Coordinating Center for an Undiagnosed Diseases Network RFA-RM-12-020
PI Name Institution Name Title
RAMONI, RACHEL BADOVINAC (contact)
KOHANE, ISAAC S.
MCCRAY, ALEXA T.
HARVARD UNIVERSITY (MEDICAL SCHOOL) Coordinating Center for the Undiagnosed Diseases Network

 

This page last reviewed on May 16, 2023