Positions

Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Director
Medical Student Curriculum in Genetics and Medical Student Genetics and Genomics Pathway
Baylor College of Medicine
Vice Chair, Educational Affairs
Molecular and Human Genetics
Baylor College of Medicine

Education

BA from Boston University
MD from Boston University School Of Medicine
Residency at University Of Massachusetts Medical School
Pathology
Fellowship at Brown University
Fetal and Perinatal Pathology
Clinical Fellowship at Baylor College Of Medicine
Medical Genetics

Certifications

American Board of Pathology
American Board of Pathology
Clinical Pathology
Clinical Genetics
American Board of Medical Genetics

Professional Interests

  • Clinical characterization of selected genomic disorders; undergraduate medical education

Professional Statement

My primary interest involves the diagnosis, counseling, and management of individuals with developmental and genetic disorders. I am one of four Learning Community Senior Advisors for the School of Medicine and serve on the Education Executive Committee for the School of Health Professions. I co-direct the medical student Genetics and Genomics Pathway which is the first of its kind in the country. My clinical expertise regards the multi-disciplinary clinical study and characterization of Smith-Magenis syndrome (SMS), and Potocki-Lupski syndrome (PTLS; duplication 17p11.2).

SMS is associated with a heterozygous deletion within 17p11.2 or point mutation of RAI1 that maps within 17p11.2. While the phenotype is variable among patients with the same sized deletion, most patients have cognitive impairment, neurobehavioral abnormalities, and sleep disturbances including an inversion of the circadian rhythm of melatonin. Clinical evaluations have been completed through the General Clinical Research Center (GCRC) at the Texas Children's Hospital (TCH). Evaluation of individuals with point mutations of RAI1 will help determine genotype-phenotype correlation.

Duplication 17p11.2 represents the reciprocal recombination of the common SMS deletion. The clinical phenotype of persons with dup17p11.2 is distinct from that of SMS and consists of infantile hypotonia and failure to thrive, mildly dysmorphic facial features, cognitive impairment, and autistic features. Although sleep disturbances are not recognized clinically, patients evaluated in the GCRC were found to have sleep disordered breathing such as central and obstructive sleep apnea. Cardiovascular anomalies are seen in approximately 50 percent of patients. Clinical comparisons of PTLS and SMS, in conjunction with molecular analyses, will provide insight as to dosage sensitivity and the roles of the genes within this region.

PSS is a contiguous gene deletion syndrome due to an interstitial deletion within the short arm of chromosome 11 [ del(11)(p11.2p12)]. Clinical findings of PSS include intellectual disability, multiple exostoses, biparietal foramina, and genital anomalies in males. The presence of multiple exostoses is associated with deletion of EXT2, the presence of biparietal foramina is associated with the deletion of ALX4, and haploinsufficiency of PHF21A is associated with intellectual disability and craniofacial anomalies. Individuals with duplication of this region have also been identified.

Selected Publications

Memberships

Parent and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Professional Advisory Board
American College of Medical Genetics
American Society of Human Genetics