Center for Pediatric Genomics

Previous Awards

2015 Funded Projects

Project Title	Led By
Validation of Lung Gene Polymorphisms Involved in Hereditary Pulmonary Alveolar Proteinosis	Kenneth Kaufman, PhD
Generating Corrected Beta Cells from Patients with Genetic Forms of Diabetes	James Wells, PhD
Genetics of Hepatoblastoma and Congenital Kidney Disease	Steve Potter, PhD
Genetic Predisposition for Thrombotic Microangiopathy	Sonata Jodele, MD
Forward Genetic Analysis of Congenital Craniofacial Malformations	Rolf Stottmann, PhD
Biomarker Development in Focal Cortical Dysplasia	Hansel Greiner, MD
EMR Machine Learning & Validation of Genetic Associations & Postoperative Pain & Opioid Outcomes in Children Undergoing Tonsillectomy	Senthilkumar Sadhasivam, PhD
Mutations in SLC25A46 Cause Autosomal Recessive Optic Atrophy & Axonal Peripheral Neuropathy	Taosheng Huang, MD, PhD
Inherited Bone Marrow Failure: Mechanisms & Therapy through Gene Discovery	Kasiani Myers, MD
Identification & Functional Relevance of Gene Variants in Progressive Familial Intrahepatic Cholestasis Patients	Chunyue Yin, PhD & Alexander Miethke, MD
Genomic Approach to Prevent a Painful Syndrome: Ehlers Danlos Hypermobility Type	Derek Neilson, MD

2016 Funded Projects

Project Title	Led By
Confronting the Dreaded VUS: Validation of Exome Sequencing Candidates in Human Growth Disorders Using Genome Editing	Andrew Dauber, MD
Fecal Metagenomics as a Tool to Identify and Mitigate Risk of Bloodstream Infection in High Risk Children	David Haslam, MD
Etiology of Inflammatory Diseases Revealed by Shared Molecular Mechanisms	Matthew Weirauch, PhD
The Contribution of Non-Coding Genome to Placental Defects: The Establishment & Application of a Novel Tool to Reliably Map and Quantify Active Enhancers	Mihaela Pavlicev, PhD
Epigenetic Mechanisms of Humoral Immune Deficiency in Kabuki Syndrome	Andrew Lindsley, MD, & Artem Barski, PhD
Epigenetic Mediation of Genetic Effects in Childhood Asthma	Hong Ji, PhD
A Decision Aid for Return of Results across Genomic Sequencing Studies	Melanie Myers, PhD
Functional Genomic Analysis of Oncogenic Pathways in Primary & Recurrent Medullablastomas	Q. Richard Lu, PhD
HPV Infection of Human Epidermis: Single Cell Resolution & Metabolomic Consequences	Susanne Wells, PhD
Genetic-Epigenetic Approach to Predict Chronic Post-Surgical Pain in Children	Vidya Chidambaran, MD

2017 Funded Projects

Project Title	Led By
Altered Three-Dimensional Chromatin Structure of the MHC Region in Lupus	Iouri Cheplevev, PhD
Congenital Dyserythropoietic Anemia Registry (CDAR)	Theodosia Kalfa, MD, PhD
Genetic Influences on Efficacy of Methotrexate in a Murine Model of Arthritis	Laura Ramsey, PhD
Novel Biomarkers to Predict Fetal Maturity from Amniotic Fluid Transcriptome	Beena Kamath-Rayne, MD, MPH
N-CoR, Lymphoid Development & Severe Combined Immune Deficiency	Michael B. Jordan, MD
Deconvolution of Neutrophil Heterogeneity in Pediatric Sepsis	Hector Wong, MD
Type 1 Diabetes Etiology as Revealed by Shared Molecular Mechanisms	Jonathan Katz, PhD
A Web Portal for Query & Building of Structural Models of Disease Mechanisms	Kakajan Komurov, PhD
Gene Expression Among Individual Microchimeric Maternal Cells	Sing Sing Way, MD, PhD

2018 Funded Projects

Project Title	Led By
Secretor status-related microbiota to predict Hirschsprung disease outcomes	Michael Helmrath, MD, MS
Defining the pediatric skin microbiome and its role in atopic dermatitis	Andrew Herr, PhD
Organoid models of endocrine growth disorder for personalized therapy testing	Vivian Hwa, PhD, and Takanori Takebe, MD
How does an amino acid change in IRF7 increase SLE risk?	Leah Kottyan, PhD
Molecular diagnosis of atopic dermatitis by transcriptome profiling of signature genes	Tesfaye Mersha, PhD
Integrated metabolomics and genomics approach in the RASopathies	Carlos E. Prada, MD
Targeting the spliceosome in AML oncofusions	Nathan Salomonis, PhD
Defining the genomics of innate regulatory cell dysfunction in lupus	Stephen Waggoner, PhD
Expansion and enhancement of the CisBP transcription factor database	Matthew Weirauch, PhD
An integrative approach to clinical variant prioritization and gene discovery	Ge Zhang, MD, PhD

2019 Funded Projects

Project Title	Led By
Epigenetics of Methylphenidate Adverse Effects and Pharmacokinetics in Children with ADHD	Tanya Froehlich, MD, MS
Novel Metagenomics Studies of the Gut, Virome and Fungome	Pooja Khandelwal, MD
Pathogenesis and Treatment of Capillary Venous Lymphatic Malformations	Timothy LeCras, PhD
Shared Gene Regulatory Mechanisms of Juvenile Idiopathic Arthritis-Associated Genetic Variants	Halima Moncrieffe, PhD
Pharmacogenomics and Pharmacoproteomics of Rac Inhibition in High-Risk B-Cell Acute Lymphoblastic Leukemia	Nicolas Nassar, PhD
Genetic Analysis of Complex Malformations of Cortical Development	Rolf Stottmann, PhD
Single-Cell Mirror Bisulfite Sequencing – A Method for Single-Base Resolution of 5hmC at the Single-Cell Level	Xueguang Sun, PhD, & Ying Sun, PhD
Validating POLR1A p.C1562F as the Cause of a Novel Infantile Encephalopathy with Infantile Spasms	K. Nicole Weaver, MD