Dr. Nivedita Patni, Assistant Professor of Pediatrics, has received the Children’s Clinical Research Advisory Committee (CCRAC) Early Career Research Award from Children’s Health.

Her project, titled “Genetic Basis of Severe Hypertriglyceridemia in Children,” has been funded at $150,000 for a two-year period. Hypertriglyceridemia occurs when there are high levels of a certain type of fat (triglycerides) in the blood.

“In the last few years, significant progress has been made in understanding the genetic basis of hypertriglyceridemia,” Dr. Patni said. “However, a large proportion of patients with this condition still do not have any known genetic mutations.”

Severe hypertriglyceridemia in children can predispose them to eruptive or tuberous xanthomas, acute pancreatitis, lipemia retinalis, hepatosplenomegaly, and atherosclerotic vascular diseases.

“Our research efforts will focus on determining the mechanisms and specific mutations that cause this disease,” Dr. Patni said. “This would help in development of targeted treatment strategies for these patients.”