UT Southwestern Researchers Identify Rare Genetic Diseases with New Technique

Local scientists are using a new technique to find the causes of rare genetic diseases in children, which will allow providers to identify treatment options more quickly. The approach, which is being implemented by researchers at Children’s Medical Center Research Institute at UT Southwestern, uses DNA sequencing and chemical analysis to find mutant genes that create defective metabolic pathways in patients.

Around a quarter of pediatric hospital admissions come from diseases with a genetic basis, causing metabolic issues and the inability to break down sugars, proteins and fats in food, which can result in chemical imbalances, death, or permanent disability in children. Treatment at a young age can prevent the worst of the consequences.

When the genetic basis of these conditions are identified, dietary modifications and medical therapy can treat many of them. Because they are so rare, the diseases often take months or years to establish the correct diagnosis.

“We hope our new technique will increase the speed with which we can pinpoint the defective gene in patients evaluated in our clinics at Children’s Health,” said Dr. Ralph DeBerardinis, Professor at CRI and of Pediatrics at UT Southwestern via release.

“Pinpointing the mutation allows us to provide useful information to the family about the disease and its risk to other family members. In some cases, the information either points to an existing therapy or helps us to devise new ones,” Dr. DeBerardinis added via release.

Published on April 30 in Cell Reports, the study found the gene responsible for a rare disease that causes abnormal brain development, seizures, and severe metabolic acidosis.

DeBerardinis is a practicing physician who is also the Chief of the Division of Pediatric Genetics and Metabolism and holds the Joel B. Steinberg, M.D. Chair in Pediatrics and is a Sowell Family Scholar in Medical Research. He also directs CRI’s Genetic and Metabolic Disease Program, is a Howard Hughes Medical Institute Investigator and is affiliated with the Eugene McDermott Center for Human Growth and Development and the Harold C. Simmons Comprehensive Cancer Center at UT Southwestern.

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