Clinical Associate Professor
Clinical Genetics; Clinical Molecular Genetics; Dysmorphology; Pediatric Genetics; Pediatrics
I specialize in the evaluation of children and adults with birth defects, developmental disability, autism and genetic disorders and syndromes. My goal as a dysmorphologist/clinical geneticist is to make specific overall diagnoses in order to provide patients and their families with information regarding prognosis and recurrence risks, i.e., the likelihood that a trait or disorder present in one family member will occur again in other family members. In addition, I help coordinate patient care in conjunction with patients’ primary care physicians and other specialists. I also work closely with genetic counselors who evaluate patients for a variety of concerns and help to coordinate genetic diagnostic testing as indicated.
As a UBMD physician working at the John R. Oishei Children‘s Hospital, I direct the Williams Syndrome program and serve as a Clinical Co-Director of the Craniofacial Center of Western New York. The Craniofacial Center provides comprehensive, interdisciplinary evaluation and management of individuals from birth through adulthood with congenital and acquired craniofacial abnormalities. Common diagnoses include clefts of the lip and/or palate, craniosynostosis, and ear anomalies. We hold monthly conferences that focus both on teaching and collaboration amongst providers in an effort to optimize patient care.
My particular interest in the care of individuals with Williams Syndrome led me to start a multidisciplinary Williams Syndrome clinic in 1994, which was one of only twelve such clinics in the country. While our providers no longer see patients in a single clinic visit, we continue to offer expertise for children and adults with this disorder. Patients are initially evaluated in genetics, at which time individualized care plans are devised. Subsequent evaluations with genetic counselors, cardiologists, pediatric psychiatrists, nephrologists, endocrinologists, ophthalmologists, audiologists, and/or neuropsychologists are arranged, depending on individual patient needs. I have coordinated a number of research studies in this patient population, and have published a number of articles in this field.
As a UB faculty member, I also teach genetics to first year medical students as well as residents and medical students during their month-long genetics elective.