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Carlos A. Bacino, MD, FACMG
|Cedars-Sinai Medical Center||fellowship||Genetics||1994|
|Beth Israel Medical Center Program||residency||Pediatrics||1991|
|Beth Israel Medical Center Program||internship||Pediatrics||1989|
|Nat'l Inst of Medical Genetics-Buenos Aires||residency||Medical Genetics||1983|
|Universidad de Buenos Aires||medical school||Doctor of Medicine||1981|
I am primarily devoted to clinical activities in the Department of Molecular and Human Genetics. I am actively involved in the diagnosis and management of pediatric patients with birth defects and rare genetic disorders. I am also involved in bone disorders and participate at 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 Cytogenetics Laboratory at Baylor Genetics, 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:
Epigenetics and Disorders of Imprinting: I have worked in Angelman syndrome clinical research for many years. We have followed a large group of Angelman syndrome patients at Texas Children's Hospital for developmental, clinical and EEG evaluations on a yearly basis. This study has allowed us to understand progression, complications and co-morbidities associated with this condition. We have also concluded two different clinical trials using betaine, creatine and folic acid/metafolin to promote methylation and revert silencing of the paternal allele. These trials attempted to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting. We also did look at the effects of levo-dopa in children with AS in a separate trial. We currently run a multidisciplinary clinic for patients with Angelman syndrome that started with the support of the Angelman Syndrome Foundation.
Skeletal dysplasias: Through the sponsorship of a private pharmaceutical company, I am involved in several studies, 1) looking at anthropometric measurements in a cohort of patients with achondroplasia, 2) enrolling patients with achondroplasia for a phase 3 clinical research trial using a recombinant cartilage natriuretic peptide (CNP) also known as vosoritide (BMN-111), a drug we anticipate will promote linear and more proportionate skeletal growth in these patients. This is a double-blind drug-placebo trial divided in two groups for patients over and under 5 years of age.
Undiagnosed Disease Network (UDN): Our group is currently recruiting and studying patients with rare disorders under the auspices of the UDN consortium. This effort has been possible by a grant awarded by the NIH under the leadership of Dr. Brendan Lee and will give us a unique ability to characterize rare disorders, make new discoveries, and gain insight on novel genes and disease mechanisms. I am currently the co-PI of this effort.
Clinical studies in patients with imprinting disorders (Angelman Syndrome), skeletal dysplasias, and genomic disorders
|American College of Medical Genetics||Member|
|American Society of Human Genetics||Member|
|Society for Pediatric Research||Member|
Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, ...,Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA "De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.." Am J Hum Genet.. 2016 99 : 720-7.
Ilari R, Agosta G, Bacino C "5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.." Am J Med Genet A.. 2016 170 : 688-93.
Boone PM, Chan YM, Hunter JV, Pottkotter LE, Davino NA, Yang Y, Beuten J, Bacino CA "Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation." Am J Med Genet A. 2016 170 : 3028-3032.
Bi W, Cheung SW, Breman AM, Bacino CA "4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.." Am J Med Genet A. 2016 170 : 2540-50.