Diabetes Care 43: 418–425, 2020 Notes: *equal contribution. Grant: Genetic discrimination between LADA and childhood-onset type 1 diabetes within the MHC. Grant: A Selective Sweep Conceals a MicroRNA with Broad Metabolic Effects. Progress in Neurobiology 201: 102000, 2021 Notes: *equal contribution. Grant*: 3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders. Grant: Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci. Nature Communications 12: 6749, 2021 Notes: *equal contribution. Grant*: Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant common complex traits. Genome Biology 22: 1, 2021 Notes: *equal contribution. Grant*: Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping. Leonard, Sumei Lu, Elisabetta Manduchi, Rajashree Mishra, Ursula W. Zimmermanįormer members: Mariana Argenziano, Alessandra Chesi, K. Burton, Mitchell Conery, Kieona Cook, Mary Ann Hazuga, Matthew E. Burke Endowed Chair for Diabetes Research Given the global prevalence of such diseases, prevention of these disorders and their serious complications must be addressed in order to reduce individual morbidity and the economic burden on society. Distillation of the genomic architecture in these complex traits should be easier to determine in children, where the relatively short period of their lifetime limits the impact of environmental exposure.
These phenotypes are known to be strongly determined by genetic factors however, resolving genomic contributors to such complex phenotypes in adults has been impeded by interaction with strong environmental factors.
Utilizing high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, my goals include unraveling genomic puzzles related to childhood obesity, pediatric bone strength determination, early onset diabetes and cancer. I have also previously played a role in uncovering genes involved in other traits, including cleft lip with or without palate, scoliosis, inflammatory bowel disease, autism, ADHD, head circumference, intracranial volume, myocardial infarction, pediatric eosinophilic esophagitis, type 1 diabetes, asthma, multiple sclerosis and neuroblastoma.Īs a Director of the Center for Spatial and Functional Genomics at the Children's Hospital of Philadelphia, my current work primarily involves investigating disease genomics with a specific focus on pediatrics. The highlights of my career are the discovery of the polymorphic Sp1 site in the COL1A1 gene and its association with osteoporosis, the identification of variation in the TCF7L2 gene playing a key role in conferring type 2 diabetes risk and providing leadership in an international genetics effort to characterize genes influencing birth weight and common childhood obesity risk. I have been conducting human genomics research for over 20 years.