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Funded Research

Limited Competition for the Continuation of Clinical Sites for the Undiagnosed Diseases Network (U01 Clinical Trial Not Allowed) RFA-NS-23-004
The Office of the Director is pleased to partner with the National Institute of Neurological Disorders and Stroke (NINDS) to support the following awards:
PI NameInstitution NameTitle
BOTTO, LORENZO DAVIDEUNIVERSITY OF UTAHIntermountain West Clinical Site for the Undiagnosed Disease Network (UDN) Continuation
DICKSON, PATRICIA I WASHINGTON UNIVERSITYWashington University School of Medicine Undiagnosed Diseases Network Clinical Site
HAMID, RIZWAN (contact)
COGAN, JOY D
PHILLIPS III, JOHN ATLAS
VANDERBILT UNIVERSITY MEDICAL CENTERVanderbilt Center for Undiagnosed Diseases (VCUD)
JARVIK, GAIL PAIRITZ (contact)
DIPPLE, KATRINA M
UNIVERSITY OF WASHINGTONPacific Northwest Undiagnosed Diseases Network Clinical Site
LEE, BRENDAN (contact)
BACINO, CARLOS A
ROSENFELD MOKRY, JILL ANNE
BAYLOR COLLEGE OF MEDICINEBCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase III (U01)
LOSCALZO, JOSEPH BRIGHAM AND WOMEN'S HOSPITALCenter for Integrated Approaches to Undiagnosed Diseases
NELSON, STANLEY F (contact)
MARTINEZ, JULIAN ANTONIO
PALMER, CHRISTINA GERMAINE
UNIVERSITY OF CALIFORNIA LOS ANGELESUCLA clinical site for the investigation of undiagnosed disorders
SHASHI, VANDANADUKE UNIVERSITYAn integrated and diverse genomic medicine program for undiagnosed diseases
SULLIVAN, KATHLEEN E (contact)
RADER, DANIEL JAMES
CHILDREN'S HOSP OF PHILADELPHIAUDN@CHOP/UPENN: transition to sustainability
TEKIN, MUSTAFA (contact)
ZUCHNER, STEPHAN
UNIVERSITY OF MIAMI SCHOOL OF MEDICINEExploring minorities: The Undiagnosed Diseases Network Clinical Site of Miami
WHEELER, MATTHEW THOMAS (contact)
ASHLEY, EUAN A
BERNSTEIN, JONATHAN
TABOR, HOLLY K     
STANFORD UNIVERSITYCenter for Undiagnosed Diseases at Stanford

 

Metabolomics Core for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-015
PI NameInstitution NameTitle
LANZA, IAN R (contact) 
OGLESBEE, DEVIN 
MAYO CLINIC ROCHESTERMayo Clinic Undiagnosed Disease Network Metabolomics Core

 

Sequencing Core(s) for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-016
PI NameInstitution NameTitle
ENG, CHRISTINEBAYLOR COLLEGE OF MEDICINEClinical 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 NameInstitution NameTitle
BELLEN, HUGO JBAYLOR COLLEGE OF MEDICINECenter for functional analysis of human UDN gene homologs in Drosophila and zebrafish
SOLNICAKREZEL, LILIANNA (contact) 
SCHEDL, TIM
WASHINGTON UNIVERSITYMulti-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 NameInstitution NameTitle
KOHANE, ISAAC S. (contact) 
MCCRAY, ALEXA T. 
MIGHT, MATTHEW BRENDON
HARVARD MEDICAL SCHOOLCoordinating Center for the Undiagnosed Disease Network Phase II

 

Clinical Sites for the Undiagnosed Diseases Network (UDN) Phase II (U01) RFA-RM-17-019
PI NameInstitution NameTitle
ASHLEY, EUAN A (contact) 
BERNSTEIN, JONATHAN 
FISHER, PAUL GRAHAM 
WHEELER, MATTHEW THOMAS
STANFORD UNIVERSITYCenter for Undiagnosed Diseases at Stanford
BOTTO, LORENZO DAVIDEUNIVERSITY OF UTAHIntermountain West Clinical Site for the Undiagnosed Disease Network (UDN), Phase 2
COLE, FRANCIS SESSIONSWASHINGTON UNIVERSITYWashington University School of Medicine Undiagnosed Diseases Network Clinical Site
JARVIK, GAIL PAIRITZ (contact) 
DIPPLE, KATRINA M 
UNIVERSITY OF WASHINGTONPacific Northwest Undiagnosed Diseases Network Clinical Site
LEE, BRENDANBAYLOR COLLEGE OF MEDICINEBCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase II (U01)
LOSCALZO, JOSEPH BRIGHAM AND WOMEN'S HOSPITALCenter for Integrated Approached to Undiagnosed Diseases
NELSON, STANLEY F. (contact) 
MARTINEZ, JULIAN ANTONIO 
PALMER, CHRISTINA GERMAINE
UNIVERSITY OF CALIFORNIA LOS ANGELESUCLA clinical site for the investigation of undiagnosed disorders
PHILLIPS III, JOHN ATLAS (contact) 
COGAN, JOY D 
HAMID, RIZWAN 
NEWMAN, JOHN HUGHES
VANDERBILT UNIVERSITY MEDICAL CENTERVanderbilt Center for Undiagnosed Diseases (VCUD)
SHASHI, VANDANA (contact) 
GOLDSTEIN, DAVID B. 
DUKE UNIVERSITYAn integrated and diverse genomic medicine program for undiagnosed diseases
SULLIVAN, KATHLEEN E (contact) 
PYERITZ, REED E
CHILDREN'S HOSP OF PHILADELPHIAUndiagnosed diseases network clinical site
TEKIN, MUSTAFA (contact) 
ZUCHNER, STEPHAN
UNIVERSITY OF MIAMI SCHOOL OF MEDICINEExploring minorities The Undiagnosed Diseases Network Clinical Site of Miami

 

Undiagnosed Diseases Gene Function Research (R21)  RFA-RM-15-004
PI NameInstitution NameTitle
DELPIRE, ERIC J VANDERBILT UNIVERSITYMolecular 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 CTRThe Role of UBTF in Undiagnosed Neurodevelopmental Disorders
PAN, YUCHIN ALBERT (contact) 
GONSALVEZ, GRAYDON
GEORGIA REGENTS UNIVERSITYUSING CELL, FLY, AND ZEBRAFISH MODELS TO UNDERSTAND FAM109A GENE FUNCTION IN UNDIAGNOSED DISEASE
WALLINGFORD, JOHN B (contact) 
MARCOTTE, EDWARD M
UNIVERSITY OF TEXAS, AUSTINMechansims of Shroom2 function in development and disease
ZHAI, RONG GRACEUNIVERSITY OF MIAMI SCHOOL OF MEDICINEFunctional 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 NameInstitution NameTitle
METZ, THOMAS O (contact) 
KOELLER, DAVID M
BATTELLE PACIFIC NORTHWEST LABORATORIESUndiagnosed Diseases Network Metabolomics Core

 

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

 

Undiagnosed Diseases Gene Function Research (R21) RFA-RM-14-005
PI NameInstitution NameTitle
HALL, RANDY A. EMORY UNIVERSITYBAI2 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 CENTERRole of a BHLHB9 polymorphism in the etiology of a developmental disorder 
WESTERFIELD, MONTEUNIVERSITY OF OREGONGenetic and functional analysis of YPEL3 and its link to disease 
YE, BINGUNIVERSITY OF MICHIGANThe function of YPEL3 in the nervous system 
YU, EUGENEROSWELL PARK CANCER INSTITUTE CORPMutational 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 NameInstitution NameTitle
ENG, CHRISTINEBAYLOR COLLEGE OF MEDICINEClinical Sequencing Core Facility for the Undiagnosed Diseases Network
JACOB, HOWARD JMEDICAL COLLEGE OF WISCONSINClinical Genome Wide Sequencing Core for the Undiagnosed Disease Network

 

Undiagnosed Diseases Gene Function Research (R21) RFA-RM-13-003
PI NameInstitution NameTitle
ANTONELLIS, ANTHONYUNIVERSITY OF MICHIGANAnalysis of tRNA Synthetase Variants in the Undiagnosed Diseases Program
CHEN, WENBIAO (contact)
PAGE-MCCAW, PATRICK SCHONLEBER
VANDERBILT UNIVERSITYA pipeline for rapid functional determination and drug discovery of UDP genes
GRAHAM, BRETT HARRISONBAYLOR COLLEGE OF MEDICINEUsing cell and fly models to understand gene function in undiagnosed diseases
LIN, SHUOUNIVERSITY OF CALIFORNIA LOS ANGELESStudy of Undiagnosed Diseases Genes in Zebrafish
SLUSARSKI, DIANE C (contact)
BASSUK, ALEXANDER G
UNIVERSITY OF IOWAModeling human epilepsy in zebrafish
WORLEY, PAUL F (contact)
WANG, TAO
JOHNS HOPKINS UNIVERSITYFunctional characterization of a FRMPD4 mutation in a UDP family
   

 

Clinical Sites for an Undiagnosed Diseases Network (UDN) (U01) RFA-RM-13-004
PI NameInstitution NameTitle
ASHLEY, EUAN A (contact)
BERNSTEIN, JON
FISHER, PAUL GRAHAM
STANFORD UNIVERSITYStanford Center for Undiagnosed Diseases
LEE, BRENDAN HLBAYLOR COLLEGE OF MEDICINEBCM CLINICAL SITE FOR AN UNDIAGNOSED DISEASES NETWORK (UDN)
LOSCALZO, JOSEPHBRIGHAM AND WOMEN'S HOSP., INC.Center for Integrated Approaches to Undiagnosed Diseases
PHILLIPS III, JOHN ATLAS (contact)
NEWMAN, JOHN HUGHES
VANDERBILT UNIVERSITY MED CTRVanderbilt Center for Undiagnosed Diseases (VCUD)
SHASHI, VANDANA (contact)
GOLDSTEIN, DAVID B.
DUKE UNIVERSITYAn 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 ANGELESUCLA clinical site for the investigation of undiagnosed disorders

 

Coordinating Center for an Undiagnosed Diseases Network RFA-RM-12-020
PI NameInstitution NameTitle
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 March 7, 2024