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Funded Research

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
KOHANE, ISAAC S. HARVARD UNIVERSITY (MEDICAL SCHOOL) Coordinating Center for the Undiagnosed Diseases Network

 

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