Genetic and Metabolic Disease Program

The Genetic and Metabolic Disease Program (GMDP) integrates patient care and research to help diagnose and treat children with genetically determined metabolic diseases. We seek to improve the lives of children and families suffering from these diseases by advancing our understanding of the effect of genetic diversity on human metabolism, health and development.

What are genetic and metabolic diseases?

Collectively, diseases with a prominent genetic basis account for a disproportionate amount of illness and mortality in children and result in a quarter of the admissions to pediatric hospitals. Of these conditions, those that affect metabolism, known as “inborn errors of metabolism” (IEM), account for the largest subset of genetic diseases that affect children. Genetic defects in metabolic enzymes and transporters cause IEMs and lead to chemical imbalances in children that can cause death or permanent disability unless identified and treated at a young age. Because proper regulation of metabolism underlies essentially every process in the body, genetically defined metabolic abnormalities can severely affect organ development and function. Consequently, IEMs include diseases that cause myriad symptoms, including severe hypoglycemia, acidosis, neurological disability, liver failure and growth retardation.

We are inspired by the fact that many IEMs are treatable once the genetic basis of the disease has been identified. We can effectively treat many of the several hundred known IEMs through dietary modifications and medical therapy. We believe that identifying new IEMs and other genetic diseases will ultimately help us provide medical care for children whom otherwise no one could treat.

genetic and metabolic disease program

How We Help Children

Together with physicians from the Division of Pediatric Genetics and Metabolism Division of the Department of Pediatrics, UT Southwestern and the Children’s Medical Center (CMC) in Dallas, scientists at Children’s Research Institute (CRI) are working to discover new disease-associated genes in children and study the functional changes that result from these mutations. The GMDP is also working to identify new treatment options and develop new diagnostic tools to improve our ability to identify and monitor these diseases in the clinic.

The GMDP is uniquely suited for this work because scientists and physicians work side by side to evaluate patients, learn about their diseases and think creatively about better treatments. Our physicians see over 250 patients with known or suspected genetic diseases each month. We invite children with potentially new or poorly understood conditions to participate in clinical studies that use cutting-edge technologies to pinpoint the genetic basis of their diseases.

Members of the GMDP

Led by Dr. Ralph DeBerardinis, the GMDP is home to top scientific researchers and a clinical team that includes physicians, genetic counselors, social workers and a care coordinator, nurse specialist and dietician.

Director of the GMDP

Ralph DeBerardinis metabolism research

Dr. DeBerardinis serves as chief of Pediatric Genetics and Metabolism at UT Southwestern and director of the GMDP in the CRI. His laboratory focuses on the role of altered metabolic states in human diseases, particularly pediatric inborn errors of metabolism and cancer. He earned a B.S. in biology from St. Joseph’s University and M.D. and Ph.D. degrees from the University of Pennsylvania. Dr. DeBerardinis was the first trainee in the combined residency program in pediatrics and medical genetics at The Children’s Hospital of Philadelphia (CHOP) and received several awards for teaching and clinical care. He ultimately achieved board certification in pediatrics, medical genetics and clinical biochemical genetics.

Dr. DeBerardinis performed postdoctoral research in Craig Thompson’s laboratory in the Penn Cancer Center from 2004 to 2007. He joined the faculty of the University of Texas Southwestern Medical Center in 2008 and joined the Children’s Medical Center Research Institute at UT Southwestern (CRI) shortly after its founding in 2012.

Mary Esther Carlin, M.D.


Garrett Gotway, M.D., Ph.D.


Angela Scheuerle, M.D.


Luis Umaña, M.D.


Markey McNutt, M.D., Ph.D.


Christine Quinn, C.G.C.

Genetic Counselor

Callie Hornbuckle, C.G.C.

Genetic Counselor

Donnice Michel, C.G.C.

Genetic Counselor

Crescenda Williams, C.G.C.

Genetic Counselor

Marisa Jendras, C.G.C.

Genetic Counselor

Julianna Hudnall, M.G.C.

Genetic Counselor

Joanna Spahis, R.N., C.N.S., A.G.N.-B.C.

Clinical Nurse Specialist

Page Bailey, R.D.,C.S.P., L.D.


Martha Barton, L.M.S.W.

Social Worker

Debbie Clark, L.C.S.W.

Social Worker

Rebecca Nelluvelil, LMSW

Social Worker

Julie Sickles

Care Coordinator

Vickie Bohuslar

Ambulatory Services Representative

Jennifer Solorio

Ambulatory Services Representative

Yvonne Varnadoe

Sr. Administrative Assistant

Ralph DeBerardinis, metabolomics facility

Ralph DeBerardinis, M.D., Ph.D.

Director of the GDMP

Javier Garcia-Bermudez, Ph.D.

Assistant Professor, CRI

Gerta Hoxhaj, cellular metabolism research

Gerta Hoxhaj, Ph.D.

Assistant Professor, CRI

Shang Ma, Ph.D.

Assistant Professor, CRI

Prashant Mishra, metabolomics facility

Prashant Mishra, M.D., Ph.D.

Assistant Professor, CRI

Sam McBrayer, Ph.D.

Assistant Professor, CRI

Min Ni, Ph.D.

Associate Professor, Research

Ongoing Clinical Trials

We are currently accepting patients for our ongoing clinical trial. To read more about this trial, please review our study record. If you are interested in referring patients to us or participating in this clinical trial, please contact Dr. Min Ni at 214-648-2189 or