Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Medical Director
Biochemical Genetics Laboratory
Baylor Genetics
Director
Medical Genetics Residency Program
Baylor College of Medicine
Director
ABMGG Diagnostic Laboratory Training Programs
Baylor College of Medicine
Director
Inborn Errors of Metabolism Service
Texas Children's Hospital

Education

BA from Transylvania University, Kentucky
MD from University Of Kentucky College Of Medicine
Residency at Washington University Affiliate Hospitals
Pediatrics
Clinical Fellowship at Baylor College Of Medicine
Medical Genetics

Certifications

Clinical Genetics
American Board of Medical Genetics
Clinical Biochemical Genetics
American Board of Medical Genetics

Professional Interests

  • Osteogenesis imperfecta/brittle bone disease
  • Achondroplasia
  • Creatine transporter deficiency
  • Aicardi syndrome
  • Goltz syndrome
  • Inborn Errors of Metabolism
  • Skeletal dysplasias
  • Robinow Syndrome
  • White-Sutton Syndrome

Professional Statement

I am a clinical geneticist with clinical and research interests in skeletal dysplasias, and inborn errors of metabolism.

Osteogenesis Imperfecta & Skeletal Dysplasias: I am the Principal Investigator for the Longitudinal Study of the Brittle Bone Diseases Rare Disease Clinical Research Network (BBD RDCRN). This is an NIH-funded consortium of eight clinical sites across the United States and Canada. The longitudinal study will collect detailed clinical assessments over time with special focus on scoliosis, vertebral compression fractures and dental and craniofacial health in OI. Additionally, I have been involved in sponsored clinical trials for skeletal dysplasias as well as collaborating with laboratory investigators in identifying novel genes involved in skeletal phenotypes. Through our multidisciplinary skeletal dysplasia clinic at Texas Children's Hospital we strive to advance knowledge and provide the highest level of care to children and adults with skeletal dysplasias and disorders of bone and mineral metabolism.

Inborn Errors of Metabolism: I direct of the Inborn Errors of Metabolism Service at Texas Children’s Hospital with around 700 outpatient encounters as well as inpatient admissions for a wide spectrum of inherited metabolic diseases. Additionally, I am the Medical Director of the Baylor Miraca Biochemical Genetics Laboratory. In these two complementary roles, I am committed to advancing care through quality improvement processes as well as clinical and laboratory research to investigate new therapies for and pathophysiologic mechanisms at play in inborn errors of metabolism.

Selected Publications

Memberships

American Society of Human Genetics
American College of Medical Genetics
Member of Professional Practice and Guidelines Committee
International Skeletal Dysplasia Society
Society of Inherited Metabolic Diseases