Positions

Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Education

BS from Brigham Young University
PhD from University Of Iowa
MD from University Of Iowa
Residency at University Of Utah
Pediatrics
Residency at Baylor College Of Medicine
Clinical Genetics

Certifications

General Pediatrics
American Board of Pediatrics
Clinical Genetics
American Board of Medical Genetics

Honors & Awards

National finalist for Council of Graduate Schools/UMI Outstanding Dissertation in the Biological and Life Sciences
Spriestersbach Dissertation Prize
3rd Place, Oral Presentation, Midwest Student Medical Research Forum
Borts Award
New Researcher Club Award
Outstanding Graduate Teaching Award 2011
Fulbright and Jaworski L.L.P. Faculty Excellence Award for Teaching/Evaluation

Professional Interests

  • Identifying and characterizing genes responsible for common birth defects

Professional Statement

Our laboratory is dedicated to identifying and characterizing genes that cause common, life-threatening birth defects and determining the molecular mechanisms by which they impact human health.

Congenital Diaphragmatic Hernia (CDH): Children with congenital diaphragmatic hernia (CDH) have an abnormal opening in the diaphragm that allows abdominal organs, like the liver and intestines, to enter into the chest. This invasion interferes with normal lung development causing severe respiratory problems at birth. CDH affects about one in every 2,500 newborns. To date, we have identified over 20 genomic regions that are recurrently deleted or duplicated in individuals with CDH. It is likely that each of these regions harbors one or more dosage-sensitive CDH genes. Using a combination of molecular cytogenetic data and mouse modeling, we have identified and characterized several genes that cause CDH in humans including HCCS, FZD2, FREM1 and ZFPM2. We have also developed novel mouse models for CDH that carry mutations in Sox7 and Frem1. We are now using these models to learn how diaphragmatic hernias form and how various CDH genes interact in vivo.

Esophageal Atresia/Tracheoesophageal Fistula (EA/TEF): Another life-threatening birth defect of interest is esophageal atresia/tracheoesophageal fistula (EA/TEF). During development, the esophagus (stomach tube) and the trachea (windpipe) develop from a common progenitor called the anterior foregut tube. In about one in 3,500 newborns, the development of these tubes is abnormal resulting in failure of the esophagus to reach the stomach (esophageal atresia) or an abnormal connection between the trachea and esophagus (tracheoesophageal fistula). Approximately 50% of EA/TEF cases occur in association with additional anomalies and 10% of cases have a constellation of findings known as VACTERL (Vertebral, Anal, Cardiac, TracheoEsophageal Fistula, Renal and Limb) association. We are presently using array-based copy number detection assays and whole exome sequencing to identify genes that cause these disorders.

1p36 Deletion Syndrome: Deletions of chromosome 1p36 can cause a variety of birth defects including brain anomalies, eye/vision problems, hearing loss, cardiovascular defects, cardiomyopathy and renal anomalies. Approximately one in 5,000 newborns carries either a terminal or interstitial deletion on chromosome 1p36. The RERE gene is located on chromosome 1p36 and encodes a nuclear receptor coregulator that plays an important role during embryonic development. Using mouse models developed in our laboratory, we have shown that RERE plays a critical role in the development of the brain, eye, inner ear, heart and kidneys. We are actively working to determine the molecular mechanisms by which RERE-deficiency causes defects in each of these organs.

Selected Publications

Memberships

American Society of Human Genetics
American Heart Association