UT Southwestern Medical Center is a leader in genetics research and the treatment of genetic disorders. Our Division of Clinical Genetics provides clinical genetics services to adult patients with genetic disorders. Members of the division are joint faculty in the McDermott Center for Human Growth and Development/Center for Human Genetics, where the goal is to foster excellence in human genetics and genomics.
Our Pediatric Genetics and Metabolism Division offers consultation, evaluation, counseling, and treatment for inherited diseases and known or suspected genetic conditions to pediatric patients at Children’s Medical Center under the direction of Mary Ester Carlin, M.D.
Our services include:
Down Syndrome Referral Service
The Down Syndrome Referral Service provides comprehensive care for children with Down syndrome and their families. Services include medical management, genetic counseling, speech and oral motor developmental evaluation and recommendations, physical development evaluation and recommendations, psychosocial support, screening and referral for behavioral or psychiatric problems, and referral to community agencies for educational intervention or therapies. The clinic’s team of professionals has more than 50 years of experience in caring for children with Down syndrome.
The Genetics/Dysmorphology Clinic provides evaluation and testing for patients with known or suspected genetic disorders, information about specific genetic diseases, comprehensive case management with referral to medical specialists and community resources, family history analysis, and genetic counseling to discuss reproductive options and chromosomal metabolic and DNA analysis for diagnosis of genetic disease. Other services include nutritional evaluation, psychosocial assessment, and counseling for children with hereditary diseases.
Metabolic Disease Service
The Metabolic Disease Service offers evaluation and testing for children with known or suspected inborn errors of metabolism, education about specific inborn errors of metabolism, and comprehensive case management with referral to medical specialists and community resources. In addition, our physicians provide family history analysis and genetic counseling to discuss reproductive options, nutritional evaluation and counseling for children with inborn errors of metabolism, and psychosocial assessment and counseling.
The Metabolic Disease Service also is a major referral center for the Texas Newborn Screening Program. This statewide program seeks to identify newborn babies with any of 29 different treatable diseases, many of which are genetic or metabolic in nature. A large fraction of the more than 400,000 babies born in Texas each year are evaluated at Children’s Medical Center.
When a baby in North Texas is found to have a metabolic abnormality on the newborn screen, the family is referred to our team for definitive diagnosis, treatment, and long-term care, if necessary. Through the Texas Newborn Screening Program, more than 75 children with metabolic diseases are identified each year, and the coordinated care of these children by the Metabolic Disease Service at Children’s significantly improves their development and survival.