Positions

Professor
Center for Precision Environmental Health
Baylor College of Medicine
Houston, Texas, United States
Clinical Professor
Pediatrics
Dell Pediatric Research Institute
Dell Medical School
Austin, Texas, United States
Changjiang Scholar Professor
Obstetrics and Gynecology
Comparative Genomics
Fudan University
Shanghai, China
Faculty Senator
Baylor College of Medicine

Education

PhD from University of Oregon Medical School
Medical Genetics
Postdoctoral Fellowship at University of Zurich
Embryology

Certifications

Ph.D. Medical Genetics
American Board of Medical Genetics and Genomics
Lifetime certification

Professional Interests

  • Neural and cardiovascular developmental defects, and complex human birth defects
  • Mentorships

Selected Publications

Memberships

American Society for Human Genetics

Projects

Folic Acid, Parental Mutation Rates and Risk for Neural Tube Defects
Finnell Birth Defects Laboratory, BCM
The project involves testing the hypothesis that folic acid protects embryos from developing neural tube defects by suppressing the spontaneous mutation rate. The studies are conducted in both human and mouse samples.
Intervention Strategies for Non-Folic Acid Responsive Neural Tube Defects
Finnell Birth Defects Laboratory, BCM
This research program is focused on mitochondrial one carbon metabolism and folate transport as it relates to neural tube closure. The work includes characterization of a new mouse knockout Slc25a32 created in the laboratory, and a knockout for Mthfd1l.
Risk Genes and Environmental Interactions
Finnell Laboratory BCM and Weill Cornell Medical College
This is a program project grant where my laboratory works on relationships between one carbon metabolism and reactive oxidative stress. We utilize metabolic and genomic approaches as well. Focus on mouse experiments on GPR161 mutants.
Epigenetic Studies of Folate Transport and Neural Tube Defects
Finnell Birth Defects Laboratory BCM and Mt. Sinai Medical Center
Utilizing our Folr1 knockout mouse and the Mthfd1l knockout mouse developing in the Appling laboratory we hope to better understand how epigenetic signals can interact with folate transport to compromise neural tube closure. We will also perform targeted DNA re-sequencing of selected candidate genes in a NTD cohort with appropriate controls.
Genomic Signature of Risk for Anti-epileptic Drug Compromised Pregnancies
Finnell Birth Defects Laboratory, BCM
Infants exposed in utero to the commonly prescribed drugs for controlling seizures in mothers with epilepsy have 3X the risk of being born with a significant structural or developmental defect. We have collected DNA samples from mothers and affected children which we will perform whole genome sequencing to try to develop a risk signature for selected drug exposures and adverse outcomes.