Associate Professor, Department
of Molecular and Human Genetics
Director, Kleberg
Genetics Clinic
Medical Director, Kleberg
Cytogenetics Laboratory
M.D., University of Buenos Aires, Argentina,
1981
Intern and Resident in Pediatrics, Beth Israel Medical Center, New York,
1991
Fellow in Clinical Genetics and Cytogenetics, Cedars-Sinai Medical Center,
1994
| Research
Interests | Selected Publications | Clinical
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I am primarily devoted 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, Otogenetics Clinic Craniofacial 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 contiguous gene syndromes, as well as the mechanism of origin of these chromosome anomalies. With regards to research activities, I have two major areas of interest:
Epigenetics and Disorders of Imprinting: In
collaboration with Dr. Arthur Beaudet, I am conducting treatment
trials for children with Angelman syndrome with betaine and
folic acid and other drugs promoting methylation. 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 prior, during, and at the end of their
treatment. The trial is trying 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.
Craniofacial Disorders and Imaging: In collaboration with Dr.
Brendan Lee and Dr. Monica Justice, we are developing standards for laser
scan measurements in craniofacial structures of humans and mice. This
technology has proven successful to make objective comparisons between
normal and abnormal craniofacial structures across subjects with genetic
syndromes affecting the skull. This scanning tool can ultimately be used
for the study and recognition of specific normal and abnormal traits,
as well as applied to the diagnosis of genetic disorders.
SELECTED PUBLICATIONS:
1. Butte NF, Comuzzie AG, Cai G,
Cole SA, Mehta NR, Bacino CA (2005). Genetic
and environmental factors influencing fasting serum adiponectin
in Hispanic children. J. Clin. Endocrinol. Metab. 90:
4170-4176.
2. Peters SU, Beaudet AL, Madduri N, Bacino CA (2004). Autism in Angelman syndrome: implications for autism research. Clin. Genet. 66: 530-536.
3. Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA (2004). Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am. J. Med. Genet. 128A: 110-113.
4. Bacino CA, Graham B (2003). Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome. Am. J. Med. Genet. 119A: 234-237.
5. Berend SA, Bodamer OAF, Shapira SK, Shaffer LG, Bacino CA (2002). A Familial Complex Chromosomal Rearrangement Resulting in a Recombinant Chromosome. Am. J. Med. Genet. 109: 311-317.
6. 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: 102-112.
7. 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: 250-255.
8. 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: 1461-1464.
9. Bacino CA, Lee B, Spikes AS, Shaffer LG (1999). Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. Am. J. Med. Genet. 82: 128-131.
For more publications, see listing on Pub Med.
CLINICAL
INFORMATION:
Board Certifications:
American Board of Medical Genetics: Clinical Molecular
Genetics, Clinical Cytogenetics, Clinical Genetics
American Board of Pediatrics: Clinical Pediatrics
Primary Focus: Birth defects, chromosomal
abnormalities, skeletal dysplasias, congenital heart diseases,
Angelman/Prader Willi Syndrome
Professional Organizations:
Member, American Society of Human Genetics
Member, American College of Medical Genetics
CONTACT
INFORMATION:
Carlos A. Bacino, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
Texas Children's Hospital
Clinical Care Center
6701 Fannin, CC1560
Houston, Texas 77030, U.S.A.
Mail Stop: CC1560
Telephone: 832-822-4280
Fax: 832-825-4294
E-mail: