Professor
I am a clinical, biochemical, and molecular geneticist in the Division of Medical Genetics. I specialize in the diagnosis and treatment of metabolic disorders and genetic disorders of the skeleton, particularly dwarfisms and limb deficiency disorders.
I trained in Pediatrics at UCLA and then Medical Genetics in the UCLA Intercampus Medical Genetics Training Program. After training, I was a member of the UCLA Pediatrics faculty based in the Medical Genetics Institute at Cedars-Sinai Medical Center until I relocated to Emory in 2014.
Office: 305H
Phone: 404-727-3201
Email William
Research Interests
My research focuses on two different areas:
- Clinical trials of therapies for genetic disorders, particularly lysosomal storage diseases and dwarfism
- The genetic basis and pathophysiology of genetic disorders of the skeleton, particularly skeletal dysplasias and limb deficiency disorders.
Areas of Specialization
- Clinical Genetics
- Biochemical Genetics
- Lysosomal storage diseases
- Skeletal dysplasias
- Limb deficiency disorders
Education
- BS, Biochemistry and Mathematics, UCLA, 1982
- MD, UCLA School of Medicine, 1988
- PhD, Molecular Biology, UCLA, 1989
- Pediatrics Internship and Residency, UCLA, 1988-1991
- Medical Genetics Residency, UCLA Intercampus Medical Genetics Training Program, 1991-1994
Board Certifications
- American Board of Medical Genetics- Clinical, Clinical Biochemical, and Clinical Molecular Genetics
Professional Memberships
I am a member of the American College of Medical Genetics and serve on the practice guidelines committee. I am a member of the Fabry Registry board of advisors and the steering committee for the NIH funded ACMG Newborn Screening Translational Research Network.
Honors and Awards
- UCLA Alumni Scholar, 1977-1982
- Phi Beta Kappa, 1982
- Ramsey award for undergraduate research in physical chemistry, 1982
- John M. Adams award for excellence in Pediatrics, 1988