Division Chief
Greg Grabowski, MD has clinical and basic research programs. As PI and co-investigator of several grants, industry contracts, and clinical trials, he oversees divisional programs for the development and evaluation of new treatments and therapies of Gaucher, Fabry, Pompe, Mucopolysaccharidosis type I (Hurler syndrome), and Niemann-Pick B diseases. Using recently created mouse models, his group probes the pathogenic and resultant proinflammatory signature pathways for the initiation and propagation of sphingolipid disorders.
Clinical Research
Liming Bao, MD, PhD focuses on the study of genetic biomarkers for hematological diseases and their underlying pathogenesis and clinical relevance.
Robert Hopkin, MD is a clinical geneticist interested in the natural history of Fabry disease and its evaluation and treatment; he is currently involved in a clinical trial for pediatric Fabry disease. He is also involved in NF research, several outcomes studies for patients with cleft lip and/or cleft palate and velocardiofacial syndrome (VCFS), and he and is actively enrolling patients in [national/international] disease registries for many of the lysosomal storage diseases.
Nancy Doan Leslie, MD is a clinical geneticist working to improve the health of individuals with inborn errors of metabolism (lysosomal disorders, as well as fatty acid and protein metabolic disorders) through development and evaluation of new drugs. As part of the critical infrastructure for clinical research on these rare diseases, she assists in the development and enrollment of patients into disease registries.
Howard Saal, MD is a clinical geneticist interested in craniofacial anomalies, with a special interest in the causes and patient outcomes of velocardiofacial syndrome (VCFS), cleft lip and cleft palate (CL/CP), airway management of Pierre-Robin sequence (PRS), and speech disorders related to genetic disorders.
Elizabeth Schorry, MD is a clinical geneticist and has an integral part of clinical studies in neurofibromatosis (NF), including the natural history of bone complications, learning and behavioral problems in patients with NF1, and drug trials for plexiform neurofibromas and other NF-related tumors.
Teresa Smolarek, PhD leads studies to assess, optimize and implement state-of-the art cytogenetics analyses, such as comparative genomic hybridization (CGH) and the recent implementation of an expanded SNP microarray to detect chromosomal imbalances that are smaller than what can be detected through routine chromosomal analyses.
Bradley Tinkle, MD, PhD is a clinical geneticist studying the natural history of connective tissue disorders such as Ehlers-Danlos and Marfan syndromes to better characterize the disease process.
Stephanie Ware, MD, PhD is a clinical geneticist who has basic and translational research programs in cardiac structure and function. Her lab studies the genetic and developmental basis of congenital heart defects, with specific interest in the molecular mechanisms controlling heart sidedness in developmental diseases such as X-linked heterotaxy. Translational research in pediatric cardiomyopathy is a second lab focus. [Visit the Ware lab.]
Kejian Zhang, MD, MBA performs clinical and translational research on the genetic etiology of primary immunodeficiencies, such as Hemophagocytic Lymphohistiocytosis (HLH), X-linked Lymphoproliferative Disease (XLP) and Autoimmune Lymphoproliferative Syndrome (ALPS), and participates in the Genetic Pharmacology Service, a multi-disciplinary team assembled to advance personal and preventive medicine.
Basic Research
Hong Du, PhD uses mouse models to understand the molecular pathophysiology and therapeutic potential of replacement therapy for the inherited lipid metabolic disorders, Wolman disease and cholesteryl ester storage disease.
Min-Xin Guan, PhD has identified several mitochondrial variants and is actively characterizing their roles in modifying susceptibility, age-of-onset, penetrance and severity of disease, with particular interest in maternally-inherited deafness.
Lisa Martin, PhD is a genetic epidemiologist with a focus on common complex traits. Using both family and population-based analytical strategies she studies the genetics of heart malformations, as well as obesity and its co-morbidities.
Derek Neilson, MD studies the genetic contributions to acute necrotizing encephalopathy (ANE), a disorder in which children are predisposed to a devastating neurologic injury following common infections.
William Nichols, PhD seeks to identify genetic variants contributing to susceptibility to pulmonary arterial hypertension, Parkinson disease, and juvenile idiopathic arthritis.
Daniel Prows, PhD has identified quantitative trait loci (QTLs) containing genes that predispose to acute lung injury induced by the oxidants hyperoxia, ozone, and nickel sulfate aerosol. Long-term goals are to identify the respective quantitative trait genes and their correct combinations for therapeutic intervention. Collaborative studies seek to identify modifier genes affecting severity of respiratory syncytial virus (RSV) infection and interstitial lung disease.
Xiaoyang Qi, PhD performs basic research focused on the role of saposin C in multivesicular body formation and neuropathogenesis, and translational research to develop saposin C-containing nanovesicles as a novel anticancer agent.
Ying Sun, PhD studies the physiologic roles of prosaposins using mouse models. Separate studies characterize the pathogenesis of neuronopathic Gaucher Disease and its potential therapies.
You-Hai Xu, PhD studies the molecular and pathophysiological mechanism(s) of Gaucher disease, especially in CNS lesions, using various mouse models generated via genomic and chemical approaches.
