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Department of Pediatrics, the Chief of Pediatric Genetics and Metabolism will be charged with delivering state-of-theart

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Schedule: Full-time

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The Opportunity The Department of Pediatrics at the University of Texas Southwestern Medical Center (UT Southwestern) is conducting a national/international search for the next Chief for the Division of Pediatric Genetics and Metabolism. UT Southwestern is a leader in genetics research and the treatment of genetic disorders. Reporting to the Chair of the Department of Pediatrics, the Chief of Pediatric Genetics and Metabolism will be charged with delivering state-of-theart consultation, evaluation, counseling and clinical care to children with inherited diseases as well as known or suspected genetic conditions at Children’s Medical Centers of Dallas and Plano and in partnership with the NICUs at UT Southwestern affiliated hospitals. The Chief will also be responsible for developing, scaling, and innovating the Division’s research and education programs. The successful candidate will have the opportunity to envision and realize the future growth of an outstanding Pediatric Genetics and Metabolism program, within the vibrant and growing UT Southwestern Medical Center and Children’s Health, both routinely considered among the nation’s finest. Our Client The Division of Pediatric Genetics and Metabolism The mission of the UT Southwestern Pediatric Genetics and Metabolism Division is to provide excellent evaluation, diagnosis and treatment of children with genetic disorders, including birth defects, malformation syndromes, genetically defined developmental delays, and inborn errors of metabolism, while advancing the field through research and innovation, as well as enhancing the education of future physicians. The Division has six full-time faculty members who play a pivotal role in advancing the Division’s clinical and scholarly programs focused on a wide variety of genetic conditions such as inborn errors of metabolism, newborn screening, lysosomal storage disorders, craniofacial malformation syndromes, and incontinentia pigmenti. Faculty provide consult services and outpatient care at Children’s Health and support the NICUs at Parkland Health and University Hospital. Patient Care With a large and growing team of physicians, genetic counselors, nurse practitioners, dieticians, and social workers, the Division is a major regional resource for children and families with genetic diseases. The team evaluates more than 250 patients each month with known or suspected genetic diseases. Particular strengths of the clinical program include:
The largest regional practice specializing in the diagnosis and treatment of children with inborn errors of metabolism
24/7 coverage for patients, with an M.D. Medical Geneticist on call at all times
Several clinics specializing in malformation syndromes and genetic forms of developmental delay
Expertise in the use and interpretation of advanced genetic diagnostics, including tests involving next generation sequencing
The only clinic in Dallas, and currently the only one in North Texas, that accepts referrals from the Texas Department of Health's newborn screening program for biochemical disorders
Participation in multidisciplinary clinics specializing in relatively common disorders such as Down syndrome and 22q11.2 deletion syndrome Clinical activities of the Division are focused in the following areas:
Metabolic Disease Clinic - The Metabolic Disease Clinic provides evaluation and testing for children with known or suspected inborn errors of metabolism (IEMs). UT Southwestern/Children’s Health is a regional center of excellence in these diseases, establishing the diagnosis in affected children, counseling and educating their families about these conditions, and optimizing therapy tailored to the needs of each child. Blood, urine, enzyme, and DNA analyses are performed for diagnosis. Patients with a confirmed diagnosis are then provided with nutritional evaluation, genetic counseling, and psychosocial assessment as well as long-term care. − The Metabolic Disease Clinic is closely associated with the Newborn Screening Clinic; the Division is a major referral center for the Texas Newborn Screening Program. This statewide program seeks to identify newborn babies with any of 30 different treatable diseases, many of which are genetic/metabolic in nature.
Genetics/Dysmorphology Clinic - Children with conditions involving birth defects, developmental delay or developmental disabilities, or other known or suspected genetic disorders receive evaluation and testing in the Genetics/Dysmorphology Clinic. Chromosomal and DNA analysis for diagnosis of genetic disease is provided, as well as psychosocial assessment, counseling, and comprehensive case management with referral to medical specialists, community resources, and support groups. Family history analysis and risk counseling to discuss reproductive options also are available through a team of board-certified genetic counselors.
Down Syndrome Clinic - Faculty and staff in this clinic have more than 50 collective years of experience in caring for children with Down Syndrome and provide comprehensive treatment for children and their families, including medical management, genetic counseling, physical, speech and motor development evaluation and recommendations, psychosocial support, screening and referral for behavioral and psychiatric problems, and referral to community agencies for educational intervention or therapies.
Interdivisional and Interdepartmental Collaborations − The Division is a key contributor to the Children’s Craniofacial program, participating in weekly care conferences involving Plastic Surgery, Dentistry, Otolaryngology, Medical Genetics, Psychology, and various ancillary services such as speech therapy and social work. Faculty also attend the monthly FETAL conferences, a patient report and management planning meeting run by the department of Obstetrics & Gynecology and including Neonatology, Pediatric Surgery, Diagnostic Imaging, and Medical Genetics. Faculty see adult patients as needed in the FETAL center and have joined the Stillbirth Committee, an organ of the Obstetrics & Gynecology department that reviews all the Parkland Hospital stillbirths. − The Division provides Medical Genetics service in an outpatient clinic in the Aston Center, an ambulatory care clinic at UT Southwestern Medical Center, performing diagnostic evaluations and ongoing management of adult patients with Mendelian genetic disorders. This clinic is administered by the department of Internal Medicine and the Eugene McDermott Center for Human Growth and Development. Research The clinical team is unique in that it is fully synchronized with a state-of-the-art research program in the Children’s Research Institute (CRI), a joint venture between UT Southwestern and Children’s Health. The Genetic and Metabolic Disease Program (GMDP) within the CRI is comprised of a team of scientists dedicated to identifying new genetic diseases and developing new ways to treat children with genetic disorders. The program uses advanced technologies to evaluate each patient’s genetic and metabolic individuality. Laboratory-based approaches in cellular and molecular biology are used to understand the precise consequences of the DNA mutations identified in patients. The research team is funded through federal, state, and private grant support. Specific research goals within the GMDP include efforts to: Discover new genetic causes of childhood diseases
Understand the genetic basis of a range of metabolic functions and its relationship to health and disease in children
Develop new diagnostic methods to detect genetic diseases in patients
Establish clinical trials to assess the effect of new treatments
Construct new disease models using genetically modified mice and use them to test the effect of experimental therapies
Use multidisciplinary approaches to identify and characterize novel malfor

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Pediatric Genetics & Metabolism Division Chief

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