Positions
- Professor
-
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Vice Chair of Clinical Affairs
-
Molecular and Human Genetics
Baylor College of Medicine
- Chief
-
Genetics Service
Texas Children's Hospital
Houston, Texas United States
- Director
-
Pediatrics Genetics Clinic
Texas Children's Hospital
Houston, Texas United States
- Medical Director, Cytogenetics
-
Baylor Genetics
Houston, Texas United States
Education
- MD from Fac. De Ciencias Med., U. De Buenos Aires
- 01/1981 - Buenos Aires, Argentina
- Residency at Beth Israel Medical Center
- 01/1991 - New York, NY United States
- Clinical Fellowship at Cedars-Sinai Medical Center
- 01/1994 - Los Angeles, California United States
- Clinical Genetics and Cytogenetics
Certifications
- Clinical Genetics
- American Board of Medical Genetics
- Clinical Cytogenetics
- American Board of Medical Genetics
- Clinical Molecular Genetics
- American Board of Medical Genetics
Professional Interests
- Clinical studies in patients with imprinting disorders (Angelman Syndrome), skeletal dysplasias, and genomic disorders
Professional Statement
I am primarily devoted to clinical activities in the Department of Molecular and Human Genetics. I am involved in the diagnosis and management of pediatric patients with birth defects and rare genetic disorders. I am also interested in bone disorders and participate in 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 20 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 (Natural History study). 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. Our group is participating in a phase II clinical research trial through a pharmaceutical company using a locked nucleic acid RO7248824 (antisense oligonucleotide drug) given intrathecally to establish dosage and safety. Our group is also involved in another antisense Phase II trial sponsored by IONIS (ION582) administered intrathecally. These antisense drugs attempt to activate the paternal UBE3A gene and ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting. 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 several pharmaceutical companies, I am involved in different studies offering treatments in achondroplasia This includes 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 drug was recently approved by the FDA for 5 years and older. We continue with studies on children under 5 years of age. We are part of two other trials, one using a long-acting recombinant CNP, and the last using an FGFR3 decoy therapy agent.
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 into novel genes and disease mechanisms. I am currently the co-PI of this effort.
Websites
Selected Publications
- Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, (…), Bacino CA, (…); Undiagnosed Diseases Network, Lee B "Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.." J Clin Invest. 2021;131:e141500. Pubmed PMID: 33001864
- Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, (…) , Bacino CA, Bellen HJ, Xiao B "De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy." Am J Hum Genet. 2020;106:717-725. Pubmed PMID: 32330417
- Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, (…), Day J "Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial." Lancet. 2020;396:684-692. Pubmed PMID: 32891212
- 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.
- 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.
- 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.
- Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF "A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.." Mol Genet Metab Rep.. 2015;5:15-18.
- Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA "Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation." Mol. Genet. Genomic Med.. 2014 Nov;2:467-71. Pubmed PMID: 25614868
- Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE "WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype." Am J Med Genet A. 2012 Nov;158(11):2917-24. Pubmed PMID: 22987818
- Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE "WDR62 missense mutation in a consanguineous family with primary microcephaly." Am J Med Genet A. 2012 Mar;158(3):622-5. Pubmed PMID: 22308068
- 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 "Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene." Am J Hum Genet. 2010 Nov 12;87(5):708-12. Pubmed PMID: 21035103
- Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA "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. 2012 Oct;158(10):2557-63. Pubmed PMID: 22903639
Memberships
- American Society of Human Genetics
- Member
- American College of Medical Genetics
- Member
- Society for Pediatric Research
- Member
- Teratology Society
- Member
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