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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.Professor of Molecular and Human Genetics

Other Positions

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


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

I am primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am actively involved in the diagnosis and management of pediatric patients with birth defects and a variety of genetic disorders. I am also interested in the clinical aspect of rare bone disorders and attend the Skeletal Dysplasia Clinic at TCH. 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 areas 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. We are now looking at the effects of levo-dopa in children with AS.

Skeletal dysplasias: Through the sponsorship of a private pharmaceutical company, our group is looking at a follow-up of anthropometric measurements in a cohort of patients with achondroplasia. We are now about to enroll patients with achondroplasia for a research phase 2 trial with cartilage natriuretic peptide (CNP), a drug we anticipate will promote linear growth as well more proportionate skeletal features in these patients.

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. Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE (2012). WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype. Am. J. Med. Genet. A. 158A(11): 2917-24. PubMed PMID: 22987818
  2. Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA (2012). De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Am. J. Med. Genet. A. 158A(10): 2557-63. PubMed PMID: 22903639
  3. Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE (2012). WDR62 missense mutation in a consanguineous family with primary microcephaly. Am. J. Med. Genet. A. 158A(3): 622-5. PubMed PMID: 22308068
  4. Berg JS, Potocki L, Bacino CA (2010). Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am. J. Med. Genet. A. 152A(5): 1066-78. PubMed PMID: 20425813
  5. Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH (2010). Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am. J. Hum. Genet. 87(5): 708-12. PubMed PMID: 21035103
  6. Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA (2010). Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am. J. Med. Genet. A. 152A(7): 1825-31. PubMed PMID: 20583181
  7. 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. PubMed PMID: 19676059
  8. Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA (2009). Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am. J. Med. Genet. A. 149A(12): 2723-30. PubMed PMID: 19938085
  9. 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. PubMed PMID: 18831060
  10. 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. PubMed PMID: 17850629
  11. 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. PubMed PMID: 17522620
  12. 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. PubMed PMID: 17330859
  13. 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. PubMed PMID: 16183798
  14. 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. PubMed PMID: 15827100
  15. Peters SU, Beaudet AL, Madduri N, Bacino CA (2006). Autism in Angelman syndrome: implications for autism research. Clin. Genet. 66(6): 530-6. PubMed PMID: 15521981
  16. 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. PubMed PMID: 15213998

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

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