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Scientists identify potential treatment for previously unknown condition affecting children

Researchers from the Agency for Science, Technology and Research's (A STAR) Genome Institute of Singapore (GIS), and Rady Children's Institute for Genomic Medicine identified a previously unknown condition affecting children, which they discovered could be prevented by administering a drug during pregnancy.

Scientists discover potential treatment for orphan pediatric condition

Novel Gene Identified as Genetic Cause of Portal Hypertension

May 06, 2021 by Julie Parry The liver serves many critical functions within the human body, including the production of critical proteins, and the removal of waste and toxins. But when damage occurs to the largest organ in the body, many people do not experience symptoms until serious damage has occurred. When the liver becomes scarred, blood can collect and raise the pressure of the portal vein. This accumulation causes portal hypertension and can lead to fluid build up in the abdomen and other detrimental side effects, including death. In new research published in the Journal of Experimental Medicine, the research team led by Silvia Vilarinho, MD, PhD, assistant professor of medicine (digestive diseases), and of pathology, performed genomic analysis to determine the cause of unexplained portal hypertension in four unrelated families.

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