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Funded Research

FOA for fiscal year 2023 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01 Clinical Trial Not Allowed)
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
GLEESON, JOSEPH GUNIVERSITY OF CALIFORNIA, SAN DIEGOWhole Genome Sequencing in Structural Defects of the Neural Tube
HONG, ANDREW L (contact)
BRZEZINSKI, JACK J
CROMPTON, BRIAN
GILLANI, RIAZ
LUPO, PHILIP J
MURPHY, ANDREW J
EMORY UNIVERSITYBasis of Childhood Kidney Cancers and Birth Defects
LIAO, ERIC CHIEN-WEICHILDRENS HOSPITAL OF PHILADELPHIAGenomic, somatic and transcriptional and epigenetic profiling of non-syndromic and syndromic craniosynostosis
MESHINCHI, SOHEILFRED HUTCHINSON CANCER CENTERLong-Read Sequencing of childhood AML, DS-AML, and TAM

SANNA-CHERCHI, SIMONE (contact)

GHARAVI, ALI G

COLUMBIA UNIVERSITY HEALTH SCIENCESLarge-scale sequencing studies in congenital anomalies of the kidney and urinary tract

SHAFFER, JOHN R (contact)

MARAZITA, MARY L

UNIVERSITY OF PITTSBURGH AT PITTSBURGHEpigenomics of orofacial clefts

TEACHEY, DAVID T (contact)

MULLIGHAN, CHARLES G

CHILDREN'S HOSPITAL OF PHILADELPHIASomatic and Germline Variants in Childhood T-cell acute lymphoblastic leukemia

 

Expert-Driven Small Projects to Strengthen Gabriella Miller Kids First Discovery (R03 Clinical Trial Not Allowed) RFA-RM-22-006
PI NameInstitution NameTitle
CODY, JANNINE DE MARSUNIVERSITY OF TEXAS HLTH SCIENCE CENTERChromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program
SHIN, DONG-GUK (contact)
BAYARSAIHAN, DASHZEVEG
BECKER, TIMOTHY JAMES
UNIVERSITY OF CONNECTICUT STORRSStructural Variation analysis of Orofacial Cleft associated genomic regions in African and Asian populations
TURRO, ERNESTICAHN SCHOOL OF MEDICINE AT MOUNT SINAIBayesian genetic association analysis of all rare diseases in the Kids First cohort

 

Limited Competition: Genome Sequencing Center for the Gabriella Miller Kids First Pediatric Research Program (U24 Clinical Trial Not Allowed) RFA-RM-21-013
PI NameInstitution NameTitle
GABRIEL, STACEYBROAD INSTITUTE, INC.GMKF competing renewal
LEVY, SHAWN E 
 
HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGYCharacterizing pediatric genomes through an optimized sequencing approach

 

Limited Competition: Continued Development of the Gabriella Miller Kids First Pediatric Data Resource Center (U2C Clinical Trial Not Allowed) RFA-RM-21-014
PI NameInstitution NameTitle
RESNICK, ADAM CAIN (contact)
CARROLL, ROBERT J
DIGIOVANNA, JACK
FERRETTI, VINCENT
GROSSMAN, ROBERT L
HAENDEL, MELISSA A
HEATH, ALLISON
TAYLOR, DEANNE MARIE
VOLCHENBOUM, SAMUEL
CHILDREN'S HOSP OF PHILADELPHIAGabriella Miller Kids First Pediatric Data Resource Center: Advancing Collaborative Platform-Enabled Data-Driven Discovery at the Intersection of Childhood Development and Cancer

 

Expert-Driven Small Projects to Strengthen Gabriella Miller Kids First Discovery (R03 Clinical Trial Not Allowed) RFA-RM-21-011
PI NameInstitution NameTitle
LUPO, PHILIP J (contact) 
HEATH, ALLISON
RESNICK, ADAM CAIN
BAYLOR COLLEGE OF MEDICINEDeep Phenotyping Children with Congenital Anomalies and Cancer Enrolled in Project:EveryChild
MARAZITA, MARY LUNIVERSITY OF PITTSBURGH AT PITTSBURGHEnhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals
ROSSER, TRACIE CEMORY UNIVERSITYEnriching medical phenotypes and environmental traits in the large DS360 Down syndrome cohort
SCHATZ, MICHAELJOHNS HOPKINS UNIVERSITYOptimized workflows for structural variant analysis of the Kids First genomes using short and long reads
SMITH, CYNTHIA LOUISE (contact) 
WESTERFIELD, MONTE
JACKSON LABORATORYCuration of Model Organism Phenotype and Disease Model Data to Augment Gabriella Miller Kid's First Data Sets for Enhanced Discovery and Therapeutic Development

 

FOA for fiscal year 2021 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01 Clincal Trial Not Allowed).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
CODY, JANNINE DE MARSUNIVERSITY OF TEXAS HEATH SCIENCE CENTERThe Genomic Basis Of Structural Birth Defects Associated With Chromosome 18 Copy Number Changes
DISKIN, SHARONCHILDREN'S HOSPITAL OF PHILADELPHIAThe Genetic Basis Of Treatment Outcomes And Late Effects After High-Risk Neuroblastoma
GELB, BRUCE DICAHN SCHOOL OF MEDICINE AT MOUNT SINAIExpanding Our Understanding Of The Role Of Noncoding Variation Causing Congenital Heart Defects
KRANTZ, IAN DCHILDREN'S HOSPITAL OF PHILADELPHIA    Rnaseq In Cornelia De Lange Syndrome, Related Diagnoses And Structural Birth Defects
LETRA, ARIADNE MUNIVERSITY OF TEXAS HEALTH SCIENCE CENTER HOUSTONWhole Genome Sequencing Studies Of Multiplex Nonsyndromic Cleft Lip/Palate Families
LUPO, PHILIP JBAYLOR COLLEGE OF MEDICINEGenetic Overlap Between Anomalies And Cancer In Kids In The Childrens Oncology Group: The COG GOBACK Study
MESHINCHI, SOHEILFRED HUTCHINSON CANCER RESEARCH CENTERGermline And Somatic Variants In Pediatric AML    
RESNICK, ADAM CAINCHILDREN'S HOSPITAL OF PHILADELPHIAGermline And Somatic Disease Modifiers Of Pediatric Brain Tumors
SCHEURER, MICHAEL EBAYLOR COLLEGE OF MEDICINEGenomic Analysis Of Histiocytosis
SHLIEN, ADAM HOSPITAL FOR SICK CHILDREN (TORONTO)Discovering The Timing And Origins Of Bone And Soft Tissue Cancers   
 

 

FOA for fiscal year 2020 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01 Clincal Trial Not Allowed).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 
COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
MARAZITA, MARY L. (CONTACT) 
FEINGOLD, ELEANOR
UNIVERSITY OF PITTSBURGH AT PITTSBURGHKids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families
WEAVER,KATHRYN CINCINNATI CHILDREN’S HOSPITAL MEDICAL CENTERGenetic diagnoses in a cohort of individuals with valvar pulmonary stenosis

 

Genome Sequencing Center for the Gabriella Miller Kids First Pediatric Research Program (U24 Clinical Trial Not Allowed) RFA-RM-18-030
PI NameInstitution NameTitle
GABRIEL, STACEYBROAD INSTITUTE, INC.Genome Sequencing in support of the Gabriella Miller Kids First Pediatric Research Program
LEVY, SHAWN E (contact) 
ZHANG, JINGHUI
HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGYCharacterizing pediatric genomes through an optimized sequencing approach

 

FOA for fiscal year 2019 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 
COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies
GHARAVI, ALI G COLUMBIA UNIVERSITY HEALTH SCIENCESWhole Genome Sequencing in Congenital Anomalies of the Kidney and Urinary Tract
 GLEESON, JOSEPHUNIVERSITY Of CALIFORNIA, SAN DIEGOWhole Exome, Genome, and RNA Sequencing in Recessive Structural Brain Defects in Children 
Whole Exome and Genome Sequencing in Structural Defects of the Neural Tube
LESILE,ELIZABETH EMORY UNIVERSITY Genomics of Orofacial Clefts in the Philippines
LUPO, PHILIP J (CONTACT), PLON, SHARON E.BAYLOR COLLEGE OF MEDICINEGenomic Analysis of Pediatric Rhabdomyosarcoma
MARTIN, DONNAUNIVERSITY OF MICHIGAN AT ANN ARBOR Genomic Etiologies of CHARGE Syndrome, Related Conditions and Structural Anomalies
TEACHY, DAVIDCHILDREN'S HOSPITAL OF PHILADELPHIA Comprehensive Genomic Profiling to Improve Prediction of Clinical Outcome for Children with T-cell Acute Lymphoblastic Leukemia
WARE, STEPHANIEINDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS Genomic Analysis of Laterality Birth Defects

 

FOA for fiscal year 2018 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
CHAMBERS, CHRISTINA  UNIVERSITY OF CALIFORNIA, SAN DIEGODiscovery of Genetic Basis of Fetal Alcohol Spectrum Disorders
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 
COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies
DROLET, BETH A MEDICAL COLLEGE OF WISCONSINAnalyzing the Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects
GHARAVI, ALI G (CONTACT) 
WONG, CRAIG S 
COLUMBIA UNIVERSITY HEALTH SCIENCESGenetics of Structural Defects of the Kidney and Urinary Tract
JELIN, ANGIE CHILD JOHNS HOPKINS UNIVERSITYSingle gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex)
KRANTZ, IAN D CHILDREN'S HOSPITAL OF PHILADELPHIAGenomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnoses and Structural Birth Defects
LAU, CHING CHING (CONTACT) 
POYNTER, JENNY N. 
JACKSON LABORATORYGenetic Predisposition to Intracranial Germ Cell Tumors
LUPO, PHILIP J (CONTACT) 
RABIN, KAREN R 
SHERMAN, STEPHANIE L. 
YANG, JUN J 
BAYLOR COLLEGE OF MEDICINEGenomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome
MESHINCHI, SOHEIL  FRED HUTCHINSON CANCER RESEARCH CENTERGermline and Somatic Variants in Myeloid Malignancies in Children
SEIDMAN, CHRISTINE E HARVARD MEDICAL SCHOOLSomatic and Germline Mutations in CHD 
SEIDMAN, JONATHAN G HARVARD MEDICAL SCHOOLThe Genetics of Microtia in Hispanic Populations

 


FOA for fiscal year 2017 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
BOYADJIEV BOYD,  SIMEON A (contact)

ROMITTI, PAUL A

UNIVERSITY OF CALIFORNIA DAVISWhole genome sequencing of nonsyndromic craniosynostosis
BUTALI, AZEEZ (contact)
BEATY, TERRI H.
UNIVERSITY OF IOWAWhole Genome Sequencing of African and Asian Orofacial Clefts Case-Parent Triads
CHUNG, WENDY K (contact)
SHEN, YUFENG  
COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
HAKONARSON, HAKON (contact)
RESNICK, ADAM CAIN
SLEIMAN, PATRICK MARTIN
CHILDREN'S HOSPITAL OF PHILADELPHIAGenetics at the Intersection of Childhood Cancer and Birth Defects
LUQUETTI, DANIELA VARELAUNIVERSITY OF WASHINGTONCraniofacial Microsomia: Genetic Causes and Pathway Discovery
SCHIFFMAN, JOSHUA DAVIDUNIVERSITY OF UTAHExpanded Ewing sarcoma cohort for tumor genomics and association with DNA repair deficiencies, clinical presentation, and outcome
SIEGEL, DAWN HMEDICAL COLLEGE OF WISCONSINGenomic analysis of a cohort with infantile hemangiomas associated with multi-organ structural birth defects
SOBREIRA, NARAJOHNS HOPKINS UNIVERSITYGenome-wide Sequencing to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors

 

Development of the Gabriella Miller Kids First Pediatric Data Resource Center (U2C) RFA-RM-16-010
PI NameInstitution NameTitle
RESNICK, ADAM CAIN (contact) 
DAVIS-DUSENBERY, BRANDI NICOLE 
FERRETTI, VINCENT 
GROSSMAN, ROBERT L. 
HAKONARSON, HAKON 
KURAL, DENIZ 
MARGOLIN, ADAM ARNE 
STEIN, LINCOLN D 
TAYLOR, DEANNE MARIE 
VOLCHENBOUM, SAMUEL
CHILDREN'S HOSP OF PHILADELPHIAInnovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric Data Resource Center

 

FOA for fiscal year 2016 cohorts: Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects: Gabriella Miller Kids First Pediatric Research Program (X01).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at the Broad Institute's or St. Jude Children’s Research Hospital/Hudson-Alpha Institute for Biotechnology's NIH supported sequencing center.
PI NameInstitution NameTitle
CHUNG, WENDY K (contact) 
SHEN, YUFENG
COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
MARAZITA, MARY L. (contact) 
FEINGOLD, ELEANOR
UNIVERSITY OF PITTSBURGH AT PITTSBURGHKids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families
MARIS, JOHN MCHILDREN'S HOSP OF PHILADELPHIAGenetic basis of neuroblastoma initiation and progression
MULLIGHAN, CHARLES G (contact) 
METZGER, MONIKA  
NICHOLS, KIM ERIKA 
SANDLUND, JOHN  
YANG, JUN J
ST. JUDE CHILDREN'S RESEARCH HOSPITALGenomic analysis of familial leukemia
PLON, SHARON E.BAYLOR COLLEGE OF MEDICINEIdentifying novel cancer susceptibility mutations from unselected childhood cancer patient and parent trios
RIOS, JONATHANUT SOUTHWESTERN MEDICAL CENTERGenomics of Orthopaedic Disease Program
SEIDMAN, CHRISTINE E.HARVARD MEDICAL SCHOOLDiscovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects
SHEN, JUN (contact) 
MORTON, CYNTHIA CASSON
BRIGHAM AND WOMEN'S HOSPITALHear-n-Seq: Sequencing Kids First for Hearing

 

Genome Sequencing Center for the Gabriella Miller Kids First Pediatric Research Program (U24) RFA-RM-16-001
PI NameInstitution NameTitle
GABRIEL, STACEYBROAD INSTITUTE, INC.Genome Sequencing in support of the Gabriella Miller Kids First Pediatric Research Program
LEVY, SHAWN E (contact) 
ZHANG, JINGHUI
HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGYCharacterizing pediatric genomes through an optimized sequencing approach

 

FOA for fiscal year 2015 cohorts: Discovery of the Genetic Basis of Structural Birth Defects and of Childhood Cancers: Gabriella Miller Kids First Pediatric Research Program (X01).
The following principal investigators were awarded access to sequence structural birth defects cohorts or childhood cancer cohorts at Baylor College of Medicine's or Washington University's NIH supported sequencing center.
PI NameInstitution NameTitle
CHUNG, WENDY K.COLUMBIA UNIVERSITY HEALTH SCIENCESGenomic Analysis of Congenital Diaphragmatic Hernia
ENGLE, ELIZABETH C.CHILDREN'S HOSPITAL CORPORATIONBCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders
MARAZITA, MARY L.UNIVERSITY OF PITTSBURGHGenomic Studies of Orofacial Cleft Birth Defects
ONEL, KENANTHE UNIVERSITY OF CHICAGOAn Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma
SCHIFFMAN, JOSHUA, DAVIDUNIVERSITY OF UTAHGenetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios
SEIDMAN, CHRISTINE E,PRESIDENT AND FELLOWS OF HARVARD COLLEGEDiscovery of the Genetic Basis of Structural Heart and Other Birth Defects
VILAIN, ERICUNIVERSITY OF CALIFORNIA LOS ANGELESGenetic Basis of Disorders/Differences of Sex Development (DSD)

 

The following administrative supplements were awarded to existing NIH grants to provide DNA sequencing services for successful applicants of PAR-15-259 “Discovery of the Genetic Basis of Structural Birth Defects and of Childhood Cancers: Gabriella Miller Kids First Pediatric Research Program (X01).
PI NameInstitution NameTitle
GIBBS, RICHARD ABAYLOR COLLEGE OF MEDICINEThe Human Genome Sequencing Center
WILSON, RICHARD KWASHINGTON UNIVERSITYA Platform for Large-Scale Genomic Discovery

This page last reviewed on March 14, 2024