Email

cbacino@bcm.edu

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.

Memberships

American Society of Human Genetics

Member

American College of Medical Genetics

Member

Society for Pediatric Research

Member

Teratology Society

Member