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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Carlos A. Bacino, M.D.

Carlos Bacino, M.D.Associate Professor, Department of Molecular and Human Genetics

Other Positions

Chief, Genetics Service, Texas Children's Hospital
Director, Pediatric Genetics Clinic
Medical Director, Cytogenetics Laboratory

Education

M.D., University of Buenos Aires, Argentina, 1981
Intern and Resident, Pediatrics, Beth Israel Medical Center, New York, 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
American Board of Pediatrics: Clinical Pediatrics

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, cryptic chromosomal abnormalities, skeletal dysplasias, Angelman/Prader Willi Syndrome

Research Interests

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. I participate in subspecialty clinics such as the Skeletal Dysplasia, and Craniofacial Clinics. 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 two major areas of interest:

Epigenetics and Disorders of Imprinting: In collaboration with Dr. Arthur Beaudet and Dr. Sarika Peters, I am conducting studies for children with Angelman syndrome. A group of children with Angelman syndrome are being brought to the Clinical Research Center at Texas Children's Hospital for clinical and laboratory evaluations before and after being treated with betaine and folic acid and other drugs promoting methylation. This is a part of a trial that attempts to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting. This study may give us important clues for the treatment of disorders involving imprinted genes. We are also actively studying a number of Angelman Syndrome patients on regular basis through a natural history study supported by the Rare Disease Center Research Network (NIH).

Surface laser scanner of face and head region

3-Dimensional image of face and head region rendered by a surface laser scanner. A new technology that is currently under research for the measurement of craniofacial structures in order to aid with pattern recognition in genetic syndromes.

Selected Publications

  1. Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA (2009). Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am. J. Med. Genet. A. 149A(9): 1916-21. [Pub Med]
  2. Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA (2008). Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am. J. Med. Genet. A. 146A(21): 2804-9. [Pub Med]
  3. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA (2007). Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin. Genet. 72(4): 329-38. [Pub Med]
  4. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU (2007). Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur. J. Hum. Genet. 15(9): 943-9. [Pub Med]
  5. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA (2007). Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am. J. Med. Genet. A. 143A(8): 791-8. [Pub Med]
  6. Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA (2006). Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J. Med. Genet. 43(6): 512-6. [Pub Med]
  7. Butte NF, Comuzzie AG, Cai G, Cole SA, Mehta NR, Bacino CA (2006). Genetic and environmental factors influencing fasting serum adiponectin in Hispanic children. J. Clin. Endocrinol. Metab. 90(7): 4170-6. [Pub Med]
  8. Peters SU, Beaudet AL, Madduri N, Bacino CA (2006). Autism in Angelman syndrome: implications for autism research. Clin. Genet. 66(6): 530-6. [Pub Med]
  9. Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA (2006). Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am. J. Med. Genet. 128A(2): 110-3. [Pub Med]
  10. Bacino CA, Graham B (2006). Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome. Am. J. Med. Genet. 119A(2): 234-7. [Pub Med]
  11. Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB (2000). Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome. Am. J. Med. Genet. 94(2): 102-12. [Pub Med]
  12. Bacino CA, Kashork CD, Davino NA, Shaffer LG (2000). Detection of a cryptic translocation in a family with mental retardation using FISH and telomere-region-specific probes. Am. J. Med. Genet. 92(4): 250-5. [Pub Med]
  13. Zhang W, Amir R, Stockton DW, Van den Veyver IB, Bacino CA, Zoghbi HY (2000). Genetic mapping of a novel syndrome of terminal osseous dysplasia and pigmentary defects to human chromosome Xq27.3-Xqter. Am. J. Hum. Genet. 66(4): 1461-4. [Pub Med]

More Publications (PubMed)

Contact Information

Carlos A. Bacino, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, MS BCM225
Houston, TX, 77030, U.S.A.

Phone: 832-822-4280
Fax: 832-825-4294
E-mail:

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