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 |
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 |
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 |