Research on clinical genetics at Children's Mercy Hospitals
and Clinics (CMH) takes a variety of forms on a wide range of
topics. We give oral and poster presentations at national meetings;
publish articles in journals specializing in genetic disorders and
inborn errors of metabolism; and serve as reviewers for genetics
journals.
Our goals are to further the knowledge in the field of clinical
genetics, dysmorphology and metabolism and to improve the care and
evaluation of our patients.
Specific areas of inquiry include:
- Natural history studies of children receiving enzyme
replacement therapy for lysosomal storage disorders
- Natural history studies of children above six years of age with
PKU receiving an FDA-approved medication
- Clinical trial in children ages zero-to-six years with PKU
with the same medication to expand the ability to prescribe the
medication to new age ranges
- Improvement in hospital-wide communication and documentation of
newborn screening test results and follow-up in the CMH electronic
medical record
- Delineation of dysmorphic and chromosomal disorders
