Gabriella Miller Kids First Pediatric Research (Kids First)
Gabriella Miller Kids First Pediatric Research (Kids First)
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X01 Projects
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2023 X01 Projects for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples |
|---|---|---|---|
| Joseph G Gleeson | University of California, San Diego | Whole Genome Sequencing in Structural Defects of the Neural Tube | 1200 |
| Andrew L Hong | Emory University | Basis of Childhood Kidney Cancers and Birth Defects | 1353 |
| Eric Chien-Wei Liao | Children's Hospital of Pennsylvania | Genomic, somatic, transcriptional and epigenetic profiling of non-syndromic and syndromic craniosynostosis | 576 |
| Soheil Meshinchi | Fred Hutchinson Cancer Research Center | Long-Read Sequencing of childhood AML, DS-AML, and TAM | 820 |
| Simone Sanna-Cherchi | Columbia University Health Sciences | Large-scale Sequencing Studies in Congenital Anomalies of the Kidney and Urinary Tract (X01 HD114139-01) | 1260 |
| John R Shaffer | University of Pittsburgh at Pittsburgh | Epigenomics of Orofacial Clefts (X01 HD114124-01) | 1465 |
| David Teachey | Children's Hosp Of Philadelphia | Somatic and Germline Variants in Childhood T-cell acute lymphoblastic leukemia | 1185 |
| *Sequencing of this project is supported by the NIH Childhood Cancer Data initiative and and the data will be shared through the NCI Cancer Data Service | |||
2022 X01 Projects for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples |
|---|---|---|---|
| Aravinda Chakravarti | New York University School of Medicine | The genomic architecture of Hirschsprung Disease | 2,137 |
| Wendy Chung | Columbia University Health Sciences | Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anoma | 300 |
| Joaquin Espinosa* | University of Colorado Denver | Epigenome analysis in the Human Trisome Project | 1,187 |
| Joseph Gleeson | University of California, San Diego | Whole Genome Sequencing in Structural Defects of the Neural Tube | 600 |
| Ingo Helbig | Children's Hospital Of Philadelphia | The Genetic Basis of Structural Pediatric Epilepsies | 2,350 |
| Mary Marazita | University of Pittsburgh | Kids First: Genomics of Isolated Cleft Lip | 2, 070 |
Jonathan Rios | University of Texas Southwestern Medical Center | GMKF Project on Congenital Clubfoot | 407 |
| *Sequencing of this project is supported by the Investigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project | |||
2021 X01 Projects for the Gabriella Miller Kids First Program
2020 X01 Projects for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples |
|---|---|---|---|
| Wendy Chung | Columbia University Health Sciences | Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies | 1804 |
| Mary Marazita | University of Pittsburgh | Kids First: Genomics of Orofacial Cleft Birth Defects in Families from Puerto Rico, Central and South America | 214 |
| Kathryn Weaver | Cincinnati Children's Hospital Medical Center | Genetic diagnoses in a cohort of individuals with valvar pulmonary stenosis | 891 |
2019 X01 Projects for the Gabriella Miller Kids First Program
2018 X01 Projects* for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples |
|---|---|---|---|
| Christina Chambers | University Of California, San Diego | Discovery of Genetic Basis of Fetal Alcohol Spectrum Disorders** | 236 |
| Wendy Chung | Columbia University Health Sciences | Genomic Analysis of Esophageal Atresia and Tracheoesophageal Fistulas and Associated Congenital Anomalies | Data Available through dbGaP Accession Number:phs002161 |
| Beth Drolet | Medical College Of Wisconsin | Analyzing the Genetic Spectrum of Vascular Anomalies, Overgrowth and Structural Birth Defects | 300 |
| Ali Gharavi | Columbia University Health Sciences | Genetics of Structural Defects of the Kidney and Urinary Tract | Data Available through dbGaP Accession Number:phs002162 |
| Angie Jelin | Johns Hopkins University | Single gene pathogenic variants associated with BEEC (Bladder extrophy, Epispadias, Complex) | 425 |
| Ian Krantz | Children's Hospital Of Philadelphia | Genomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnoses and Structural Birth Defects | 400 |
| Ching Lau | The Jackson Laboratory | Genetic Predisposition to Intracranial Germ Cell Tumors | 800 |
| Philip Lupo | Baylor College Of Medicine | Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome*** | 2816 |
| Soheil Meshinchi | Fred Hutchinson Cancer Research Center | Germline and Somatic Variants in Myeloid Malignancies in Children*** | 2000 |
| Christine Seidman | Harvard Medical School | Germline Mutations in CHD | 300 |
| Jonathan Seidman | Harvard Medical School | The Genetics of Microtia in Hispanic Populations | Data Available through dbGaP Accession Number:phs002172 |
| *All projects are pending sequencing completion **Sequencing of this project is partially supported by the National Institute on Alcohol Abuse and Alcoholism (NIAAA) ***Sequencing of this project is partially supported by the Investigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project | |||
2017 X01 Projects for the Gabriella Miller Kids First Program
2016 X01 Projects for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples | Estimated Release Dates |
|---|---|---|---|---|
| Wendy Chung | Columbia University Health Sciences | Genomic Analysis of Congenital Diaphragmatic Hernia and Associated Congenital Anomalies | 942 + 15 (long read pilot) | Data Available through dbGaP Accession Number: phs001110 |
| Mary Marazita | University of Pittsburgh at Pittsburgh | Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families | 831 + 15 (long read pilot) | Data Available through dbGaP Accession Number: phs001420 |
| John Maris | Children's hospital of Philadelphia | Genetic Basis of Neuroblastoma initiation and progression | 2154 | Data Available through dbGaP Accession Number: phs001436 |
| Charles Mullighan | St. Jude Children's Research Hospital | Genomic Analysis of Familial Leukemia | 483 | Data Available through dbGaP Accession Number: phs001738 |
| Sharon Plon | Baylor College of Medicine | Identifying Novel Cancer Susceptibility Mutations from Unselected Childhood Cancer Patient and Parent Trios | 371 | Data Available through dbGaP Accession Number: phs001878 |
| Jonathan Rios | UT Southwestern Medical Center | Genomics of Orthopaedic Disease Program | 300 | Data Available through dbGaP Accession Number: phs001410 |
| Christine Seidman | Harvard Medical School | Discovery of De Novo and Inherited Mutations that Cause Prevalent Birth Defects | 1275 | Data Available through dbGaP Accession Number:phs001138 |
| Jun Shen | Brigham and Women's Hospital | Hear-n-Seq: Sequencing Kids First for Hearing | 437 | TBD |
2015 X01 Projects for the Gabriella Miller Kids First Program
| Contact PI Name | Institution Name | Title | Anticipated Number of Samples | Estimated Release Dates |
|---|---|---|---|---|
| Wendy Chung | Columbia University Health Sciences | Genomic Analysis of Congenital Diaphragmatic Hernia | 600 | Data Available through dbGaP Accession Number: phs001110 |
| Elizabeth Engle | Children's Hospital Corporation | BCH Structural Birth Defects Collaboration: Syndromic cranial dysinnervation disorders | 900 | Data Available through dbGaP Accession Number: |
| Mary Marazita | University of Pittsburgh | Genomic Studies of Orofacial Cleft Birth Defects | 1242 | Data Available through dbGaP Accession Number: |
| Kenan Onel | The University of Chicago | An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma | 400 | Data Available through dbGaP Accession Number: phs001714 |
| Joshua Schiffman | University of Utah | Genetic Contribution to Ewing Sarcoma in 330 parent-Offspring Trios | 1112 | Data Available through dbGaP Accession Number:
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| Christine Seidman | President and Fellows of Harvard College | Discovery of the Genetic Basis of Structural Heart and Other Birth Defects | 900 | Data Available through dbGap Accession Number: |
| Eric Vilain | University of California Los Angeles | Genetic Basis of Disorders/Differences of Sex Development (DSD) | 300 | Data Available through dbGaP Accession Number:
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