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**Notice for fiscal year 2024 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 Name	Institution Name	Title
BROWN, AUSTIN L	BAYLOR COLLEGE OF MEDICINE	Whole genome sequencing to characterize genetic susceptibility and variability in pediatric and AYA classic Hodgkin lymphoma
HAKONARSON, HAKON	CHILDREN'S HOSPITAL OF PHILADELPHIA	Translation-Focused Discovery and Analysis Platform for Resolving Childhood Cancers
HOANG, THANH THIEN	BAYLOR COLLEGE OF MEDICINE	Somatic and Germline Genomic Variations of Medulloblastoma
SHAFFER, JOHN R	UNIVERSITY OF PITTSBURGH AT PITTSBURGH	Expanding the orofacial cleft omics resour ces
LIAO, ERIC CHIEN-WEI	CHILDREN'S HOSPITAL OF PHILADELPHIA	Craniosynostosis Tissue X01
GIAMPIETRO, PHILIP F	UNIVERSITY OF ILLINOIS AT CHICAGO	Whole genome analysis in patients with vertebral malformations and congenital scoliosis
CHUNG, WENDY K	BOSTON CHILDREN'S HOSPITAL	Genetic basis of laryngeal clefts
HILDEBRANDT, FRIEDHELM	BOSTON CHILDREN'S HOSPITAL	Genomic Landscape of Renal Developmental Disorders, Including Renal Ciliopathies and Congenital Anomalies of Kidneys and the Urinary Tract

**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 Name	Institution Name	Title
GLEESON, JOSEPH G	UNIVERSITY OF CALIFORNIA, SAN DIEGO	Whole 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 UNIVERSITY	Basis of Childhood Kidney Cancers and Birth Defects
LIAO, ERIC CHIEN-WEI	CHILDRENS HOSPITAL OF PHILADELPHIA	Genomic, somatic and transcriptional and epigenetic profiling of non-syndromic and syndromic craniosynostosis
MESHINCHI, SOHEIL	FRED HUTCHINSON CANCER CENTER	Long-Read Sequencing of childhood AML, DS-AML, and TAM
SANNA-CHERCHI, SIMONE (contact) GHARAVI, ALI G	COLUMBIA UNIVERSITY HEALTH SCIENCES	Large-scale sequencing studies in congenital anomalies of the kidney and urinary tract
SHAFFER, JOHN R (contact) MARAZITA, MARY L	UNIVERSITY OF PITTSBURGH AT PITTSBURGH	Epigenomics of orofacial clefts
TEACHEY, DAVID T (contact) MULLIGHAN, CHARLES G	CHILDREN'S HOSPITAL OF PHILADELPHIA	Somatic 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 Name	Institution Name	Title
CODY, JANNINE DE MARS	UNIVERSITY OF TEXAS HLTH SCIENCE CENTER	Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program
SHIN, DONG-GUK (contact) BAYARSAIHAN, DASHZEVEG BECKER, TIMOTHY JAMES	UNIVERSITY OF CONNECTICUT STORRS	Structural Variation analysis of Orofacial Cleft associated genomic regions in African and Asian populations
TURRO, ERNEST	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	Bayesian 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 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 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 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

**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 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 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
GLEESON, JOSEPH	UNIVERSITY Of CALIFORNIA, SAN DIEGO	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 July 10, 2025

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