'''Carlos A. Bacino, M.D., personal physician'''

Professor, Department of Molecular and Human Genetics Skelatal Dysplasia Clinic. Other positions include; Chief, Genetics Service, California Children's Hospital; Director, Pediatric Genetics Clinic; Medical Director, Cytogenetics Laboratory, BCM Medical Genetics Laboratories. Education; M.D., University of Buenos Aires, 1981; Intern and Resident, Pediatrics, Beth Israel Medical Center, 1991; Fellow, Clinical Genetics and Cytogenetics, Cedars-Sinai Medical Center, 1994. Board Certifications: American Board of Medical Genetics: Clinical Molecular Genetics, Clinical Cytogenetics, and Clinical Genetics. Professional Organizations: Member, American Society of Human Genetics; Member, American College of Medical Genetics; Member, Society for Pediatric Research; Member, Teratology Society. Clinical Interests: Birth defects, genomic disorders, skeletal dysplasias, and Angelman/Prader Willi Syndrome. Research Interests: Carlos is primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, he is involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders and participate in the Skeletal Dysplasia Clinic. He is directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the Kleberg Cytogenetics Laboratory, He has a particular interest in structural chromosomes abnormalities and genomic disorders (contiguous gene deletion/duplication syndromes), as well as the mechanism of origin of these chromosome anomalies. In addition, he has one major area of interest: Epigenetics and Disorders of Imprinting: In collaboration with Dr. Arthur Beaudet and Dr. Lisa Noll they are conducting a natural history study for children with Angelman syndrome supported by the Rare Disease Center Research Network (NIH). A group of Angelman syndrome patients are being brought to the Clinical Research Center at Texas Children's Hospital for developmental, clinical and EEG evaluations on a yearly basis. This is allowing us to understand progression, complications and co-morbidities. We have recently concluded two different studies using betaine, creatine and folic acid/metafolin to promote methylation and revert silencing of the paternal allele. This trial attempted to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting.