Funded Research
Undiagnosed Diseases Gene Function Research (R21) RFA-RM-15-004 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 | |
| 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 |
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| 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 8, 2017