Funded Research
| PI Name | Institution Name | Title |
| BOTTO, LORENZO DAVIDE | UNIVERSITY OF UTAH | Intermountain West Clinical Site for the Undiagnosed Disease Network (UDN) Continuation |
| DICKSON, PATRICIA I | WASHINGTON UNIVERSITY | Washington University School of Medicine Undiagnosed Diseases Network Clinical Site |
| HAMID, RIZWAN (contact) COGAN, JOY D PHILLIPS III, JOHN ATLAS | VANDERBILT UNIVERSITY MEDICAL CENTER | Vanderbilt Center for Undiagnosed Diseases (VCUD) |
| JARVIK, GAIL PAIRITZ (contact) DIPPLE, KATRINA M | UNIVERSITY OF WASHINGTON | Pacific Northwest Undiagnosed Diseases Network Clinical Site |
| LEE, BRENDAN (contact) BACINO, CARLOS A ROSENFELD MOKRY, JILL ANNE | BAYLOR COLLEGE OF MEDICINE | BCM Clinical Site for an Undiagnosed Disease Network (UDN) Phase III (U01) |
| LOSCALZO, JOSEPH | BRIGHAM AND WOMEN'S HOSPITAL | Center for Integrated Approaches 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 |
| SHASHI, VANDANA | DUKE UNIVERSITY | An integrated and diverse genomic medicine program for undiagnosed diseases |
| SULLIVAN, KATHLEEN E (contact) RADER, DANIEL JAMES | CHILDREN'S HOSP OF PHILADELPHIA | UDN@CHOP/UPENN: transition to sustainability |
| TEKIN, MUSTAFA (contact) ZUCHNER, STEPHAN | UNIVERSITY OF MIAMI SCHOOL OF MEDICINE | Exploring minorities: The Undiagnosed Diseases Network Clinical Site of Miami |
| WHEELER, MATTHEW THOMAS (contact) ASHLEY, EUAN A BERNSTEIN, JONATHAN TABOR, HOLLY K | STANFORD UNIVERSITY | Center for Undiagnosed Diseases at Stanford |
| PI Name | Institution Name | Title |
|---|---|---|
| LANZA, IAN R (contact) OGLESBEE, DEVIN | MAYO CLINIC ROCHESTER | Mayo Clinic Undiagnosed Disease Network Metabolomics Core |
| PI Name | Institution Name | Title |
|---|---|---|
| ENG, CHRISTINE | BAYLOR COLLEGE OF MEDICINE | Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN) |
| 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 |
| 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 |
| 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 |
| 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 |
| PI Name | Institution Name | Title |
|---|---|---|
| METZ, THOMAS O (contact) KOELLER, DAVID M | BATTELLE PACIFIC NORTHWEST LABORATORIES | Undiagnosed Diseases Network Metabolomics Core |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |