Funded Research

Limited Competition: Genome Sequencing Center for the Gabriella Miller Kids First Pediatric Research Program (U24 Clinical Trial Not Allowed) RFA-RM-21-013
PI Name Institution Name Title
GABRIEL, STACEY BROAD INSTITUTE, INC. GMKF competing renewal
LEVY, SHAWN E 
 		 HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY Characterizing 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 Name Institution Name Title
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 PHILADELPHIA Gabriella 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 Name Institution Name Title
LUPO, PHILIP J (contact) 
HEATH, ALLISON
RESNICK, ADAM CAIN		 BAYLOR COLLEGE OF MEDICINE Deep Phenotyping Children with Congenital Anomalies and Cancer Enrolled in Project:EveryChild
MARAZITA, MARY L UNIVERSITY OF PITTSBURGH AT PITTSBURGH Enhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals
ROSSER, TRACIE C EMORY UNIVERSITY Enriching medical phenotypes and environmental traits in the large DS360 Down syndrome cohort
SCHATZ, MICHAEL JOHNS HOPKINS UNIVERSITY Optimized workflows for structural variant analysis of the Kids First genomes using short and long reads
SMITH, CYNTHIA LOUISE (contact) 
WESTERFIELD, MONTE		 JACKSON LABORATORY Curation 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 Name Institution Name Title
CODY, JANNINE DE MARS UNIVERSITY OF TEXAS HEATH SCIENCE CENTER The Genomic Basis Of Structural Birth Defects Associated With Chromosome 18 Copy Number Changes
DISKIN, SHARON CHILDREN'S HOSPITAL OF PHILADELPHIA The Genetic Basis Of Treatment Outcomes And Late Effects After High-Risk Neuroblastoma
GELB, BRUCE D ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI Expanding Our Understanding Of The Role Of Noncoding Variation Causing Congenital Heart Defects
KRANTZ, IAN D CHILDREN'S HOSPITAL OF PHILADELPHIA     Rnaseq In Cornelia De Lange Syndrome, Related Diagnoses And Structural Birth Defects
LETRA, ARIADNE M UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER HOUSTON Whole Genome Sequencing Studies Of Multiplex Nonsyndromic Cleft Lip/Palate Families
LUPO, PHILIP J BAYLOR COLLEGE OF MEDICINE Genetic Overlap Between Anomalies And Cancer In Kids In The Childrens Oncology Group: The COG GOBACK Study
MESHINCHI, SOHEIL FRED HUTCHINSON CANCER RESEARCH CENTER Germline And Somatic Variants In Pediatric AML    
RESNICK, ADAM CAIN CHILDREN'S HOSPITAL OF PHILADELPHIA Germline And Somatic Disease Modifiers Of Pediatric Brain Tumors
SCHEURER, MICHAEL E BAYLOR COLLEGE OF MEDICINE Genomic 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 Name Institution Name Title
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
MARAZITA, MARY L. (CONTACT) 
FEINGOLD, ELEANOR		 UNIVERSITY OF PITTSBURGH AT PITTSBURGH Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families
WEAVER,KATHRYN  CINCINNATI CHILDREN’S HOSPITAL MEDICAL CENTER Genetic 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 Name Institution Name Title
GABRIEL, STACEY BROAD 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 BIOTECHNOLOGY Characterizing 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 Name Institution Name Title
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies
GHARAVI, ALI G  COLUMBIA UNIVERSITY HEALTH SCIENCES Whole Genome Sequencing in Congenital Anomalies of the Kidney and Urinary Tract
 GLEESON, JOSEPH UNIVERSITY Of CALIFORNIA, SAN DIEGO Whole 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 MEDICINE Genomic Analysis of Pediatric Rhabdomyosarcoma

MARTIN, DONNA

 UNIVERSITY OF MICHIGAN AT ANN ARBOR  Genomic Etiologies of CHARGE Syndrome, Related Conditions and Structural Anomalies
TEACHY, DAVID CHILDREN'S HOSPITAL OF PHILADELPHIA  Comprehensive Genomic Profiling to Improve Prediction of Clinical Outcome for Children with T-cell Acute Lymphoblastic Leukemia
WARE, STEPHANIE INDIANA 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 Name Institution Name Title
CHAMBERS, CHRISTINA   UNIVERSITY OF CALIFORNIA, SAN DIEGO Discovery of Genetic Basis of Fetal Alcohol Spectrum Disorders
CHUNG, WENDY K (CONTACT) 
SHEN, YUFENG 		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies
DROLET, BETH A  MEDICAL COLLEGE OF WISCONSIN Analyzing the Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects
GHARAVI, ALI G (CONTACT) 
WONG, CRAIG S 		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genetics of Structural Defects of the Kidney and Urinary Tract
JELIN, ANGIE CHILD  JOHNS HOPKINS UNIVERSITY Single gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex)
KRANTZ, IAN D  CHILDREN'S HOSPITAL OF PHILADELPHIA Genomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnoses and Structural Birth Defects
LAU, CHING CHING (CONTACT) 
POYNTER, JENNY N. 		 JACKSON LABORATORY Genetic Predisposition to Intracranial Germ Cell Tumors

LUPO, PHILIP J (CONTACT) 
RABIN, KAREN R 
SHERMAN, STEPHANIE L. 
YANG, JUN J 

 BAYLOR COLLEGE OF MEDICINE Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome

MESHINCHI, SOHEIL  

 FRED HUTCHINSON CANCER RESEARCH CENTER Germline and Somatic Variants in Myeloid Malignancies in Children
SEIDMAN, CHRISTINE E  HARVARD MEDICAL SCHOOL Somatic and Germline Mutations in CHD 
SEIDMAN, JONATHAN G  HARVARD MEDICAL SCHOOL The 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 Name Institution Name Title
BOYADJIEV BOYD,  SIMEON A (contact)
ROMITTI, PAUL A		 UNIVERSITY OF CALIFORNIA DAVIS Whole genome sequencing of nonsyndromic craniosynostosis
BUTALI, AZEEZ (contact)
BEATY, TERRI H.		 UNIVERSITY OF IOWA Whole Genome Sequencing of African and Asian Orofacial Clefts Case-Parent Triads
CHUNG, WENDY K (contact)
SHEN, YUFENG  		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
HAKONARSON, HAKON (contact)
RESNICK, ADAM CAIN
SLEIMAN, PATRICK MARTIN		 CHILDREN'S HOSPITAL OF PHILADELPHIA Genetics at the Intersection of Childhood Cancer and Birth Defects
LUQUETTI, DANIELA VARELA UNIVERSITY OF WASHINGTON Craniofacial Microsomia: Genetic Causes and Pathway Discovery
SCHIFFMAN, JOSHUA DAVID UNIVERSITY OF UTAH Expanded Ewing sarcoma cohort for tumor genomics and association with DNA repair deficiencies, clinical presentation, and outcome
SIEGEL, DAWN H MEDICAL COLLEGE OF WISCONSIN Genomic analysis of a cohort with infantile hemangiomas associated with multi-organ structural birth defects
SOBREIRA, NARA JOHNS HOPKINS UNIVERSITY Genome-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 Name Institution Name Title
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 PHILADELPHIA Innovation 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 Name Institution Name Title
CHUNG, WENDY K (contact) 
SHEN, YUFENG		 COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies
MARAZITA, MARY L. (contact) 
FEINGOLD, ELEANOR		 UNIVERSITY OF PITTSBURGH AT PITTSBURGH Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families
MARIS, JOHN M CHILDREN'S HOSP OF PHILADELPHIA Genetic 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 HOSPITAL Genomic analysis of familial leukemia
PLON, SHARON E. BAYLOR COLLEGE OF MEDICINE Identifying novel cancer susceptibility mutations from unselected childhood cancer patient and parent trios
RIOS, JONATHAN UT SOUTHWESTERN MEDICAL CENTER Genomics of Orthopaedic Disease Program
SEIDMAN, CHRISTINE E. HARVARD MEDICAL SCHOOL Discovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects
SHEN, JUN (contact) 
MORTON, CYNTHIA CASSON		 BRIGHAM AND WOMEN'S HOSPITAL Hear-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 Name Institution Name Title
GABRIEL, STACEY BROAD 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 BIOTECHNOLOGY Characterizing 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 Name Institution Name Title
CHUNG, WENDY K. COLUMBIA UNIVERSITY HEALTH SCIENCES Genomic Analysis of Congenital Diaphragmatic Hernia
ENGLE, ELIZABETH C. CHILDREN'S HOSPITAL CORPORATION BCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders
MARAZITA, MARY L. UNIVERSITY OF PITTSBURGH Genomic Studies of Orofacial Cleft Birth Defects
ONEL, KENAN THE UNIVERSITY OF CHICAGO An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma
SCHIFFMAN, JOSHUA, DAVID UNIVERSITY OF UTAH Genetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios
SEIDMAN, CHRISTINE E, PRESIDENT AND FELLOWS OF HARVARD COLLEGE Discovery of the Genetic Basis of Structural Heart and Other Birth Defects
VILAIN, ERIC UNIVERSITY OF CALIFORNIA LOS ANGELES Genetic 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 Name Institution Name Title
GIBBS, RICHARD A BAYLOR COLLEGE OF MEDICINE The Human Genome Sequencing Center
WILSON, RICHARD K WASHINGTON UNIVERSITY A Platform for Large-Scale Genomic Discovery

This page last reviewed on September 26, 2022