Email

ceng@bcm.edu

Positions

Professor

Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US

Vice Chair for Diagnostic Laboratory Affairs

Molecular and Human Genetics
Baylor College of Medicine

Chief Quality Officer, Vice President, Chief Medical Officer

Baylor Genetics

Director

Storage Disorders Clinic
Texas Children's Hospital
Houston, Texas United States
Storage Disorders Clinic

Education

BA from Yale University

01/1978 - New Haven, CT United States

MD from Tulane University

01/1983 - New Orleans, LA United States

Certifications

Clinical Molecular Genetics

American Board of Medical Genetics

General Pediatrics

American Board of Pediatrics

Professional Interests

• Genetic testing for inherited diseases
• Natural history, molecular genetics, and treatment of lysosomal storage disorders

Professional Statement

My research interests are directed towards translational medicine, specifically the application of molecular genetics to the diagnosis and treatment of genetic diseases. Recently, my efforts have been focused on laboratory and clinical aspects of genetic testing and clinical research in lysosomal storage diseases.

My main area of interest is the development, implementation and evaluation of novel molecular approaches to the diagnosis of genetic disorders. As senior director of the Medical Genetics Laboratories and medical director of the Whole Genome Laboratory, our primary mission is to provide state-of-the-art genetic testing for common and rare conditions in a CAP and CLIA-certified clinical laboratory. To this end, we are very active in development of new disease tests and testing strategies, refinement of testing methods for improved sensitivity and specificity, and extension of these activities beyond the usual scope of a molecular diagnostic lab. In collaboration with the Human Genome Sequencing Center at Baylor, we have recently developed, validated and implemented whole exome sequencing as a clinical diagnostic test for individuals with apparent genetic disorders that have been a challenge to diagnose. The whole exome sequencing test is a highly complex test that identifies changes in a patient’s DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the whole exome sequencing test analyzes the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques. Identification of the underlying diagnosis can improve medical management and offer information to the family regarding prognosis. Another area of development in the area of personalized medicine is based on determining an individual’s genomic profile. We recently developed and validated a highly multiplexed, beadchip assay that is designed to detect single nucleotide changes in disease genes and genetic loci that are causative or predictive of specific single gene disorders, increase the risk of developing certain common multifactorial conditions such as diabetes or are associated with the altered metabolism and response to certain drugs. In addition to the development of tests for clinical application, we also have an active interest in determining molecular mechanisms for novel mutations detected through routine testing as well as identifying potential novel disease genes.

My major clinical research interest is in lysosomal storage diseases, particularly Fabry disease, Gaucher disease, and Mucopolysaccharidosis type 2, with emphasis on both clinical and laboratory approaches to the elucidation of the natural history, molecular genetics, and evaluation of treatments in clinical trials. Previous accomplishments in my laboratory include the further characterization of the natural history of the classical and cardiac variant forms of the disease, study of genotype-phenotype correlations and development of rapid mutation assays for prenatal diagnosis and identification of carrier females. Currently, my efforts have been directed toward the evaluation in clinical trials of novel treatment approaches for Fabry disease, Gaucher disease and other lysosomal storage disorders in the form of recombinant enzyme replacement therapy and chaperone therapy.

Websites

Selected Publications

• Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM "Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders.." N Engl J Med.. 2013 17;369(16):1502-11. Pubmed PMID: 24088041
• Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Maj "Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.." Hum. Mutat.. 2013 Feb;34(2):385-94. Pubmed PMID: 23161826
• Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA "Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.." Am. J. Hematol.. 2013 Mar;88(3):172-8. Pubmed PMID: 23339116
• Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L "Chromosomal microarray versus karyotyping for prenatal diagnosis.." N. Engl. J. Med.. 2012 Dec 6;367(23):2175-84. Pubmed PMID: 23215555