Carlos A. Bacino, MD, FACMG
I am primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders and participate in the Skeletal Dysplasia Clinic. I am directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the Kleberg Cytogenetics Laboratory, I have 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, I have one major area of interest:
Epigenetics and Disorders of Imprinting: In collaboration with Dr. Arthur Beaudet and Dr. Lisa Noll we 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.
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenatal Diagnosis 2012 Apr;32(4):351-61.
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